diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md
index fce94185f..2af24ff34 100644
--- a/docs/metrics/doid.md
+++ b/docs/metrics/doid.md
@@ -2,16 +2,16 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/doid.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/doid.owl
### Entities and axioms
| Metric | Value |
| ------ | ----- |
| Annotation properties | 27 |
-| Axioms | 129102 |
-| Logical axioms | 16223 |
-| Classes | 13160 |
+| Axioms | 129444 |
+| Logical axioms | 16297 |
+| Classes | 13204 |
| Object properties | 0 |
| Data properties | 0 |
| Individuals | 0 |
@@ -32,11 +32,11 @@
| Metric | Value |
| ------ | ----- |
-| AnnotationAssertion | 99692 |
+| AnnotationAssertion | 99916 |
| SubAnnotationPropertyOf | 1 |
| DisjointClasses | 26 |
-| Declaration | 13186 |
-| SubClassOf | 16197 |
+| Declaration | 13230 |
+| SubClassOf | 16271 |
#### Entity namespaces: axiom counts by namespace
@@ -45,8 +45,8 @@
| ------ | ----- |
| oboInOwl | 12 |
| owl | 2 |
-| DOID | 11614 |
-| HP | 118 |
+| DOID | 11646 |
+| HP | 114 |
| xsd | 1 |
| CL | 62 |
| skos | 5 |
@@ -59,7 +59,7 @@
| rdf | 1 |
| CHEBI | 90 |
| IAO | 2 |
-| UBERON | 394 |
+| UBERON | 410 |
| SO | 17 |
| obo | 191 |
| GENO | 10 |
@@ -70,7 +70,7 @@
| Metric | Value |
| ------ | ----- |
-| Class | 45766 |
+| Class | 45958 |
More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata).
diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md
index d50a5b0ba..755d82666 100644
--- a/docs/metrics/gard.md
+++ b/docs/metrics/gard.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/gard.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/gard.owl
### Entities and axioms
diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md
index f6b89a424..bac13d0cc 100644
--- a/docs/metrics/icd10cm.md
+++ b/docs/metrics/icd10cm.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd10cm.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10cm.owl
### Entities and axioms
diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md
index c7fac54b0..375caf4ab 100644
--- a/docs/metrics/icd10who.md
+++ b/docs/metrics/icd10who.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd10who.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10who.owl
### Entities and axioms
diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md
index b68d53c93..e00ae9b78 100644
--- a/docs/metrics/icd11foundation.md
+++ b/docs/metrics/icd11foundation.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd11foundation.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd11foundation.owl
### Entities and axioms
diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md
index da27903bd..af717b037 100644
--- a/docs/metrics/ncit.md
+++ b/docs/metrics/ncit.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/ncit.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ncit.owl
### Entities and axioms
diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md
index 271bf8519..9f9835ffc 100644
--- a/docs/metrics/omim.md
+++ b/docs/metrics/omim.md
@@ -2,16 +2,16 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/omim.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/omim.owl
### Entities and axioms
| Metric | Value |
| ------ | ----- |
| Annotation properties | 19 |
-| Axioms | 347317 |
-| Logical axioms | 22779 |
-| Classes | 19534 |
+| Axioms | 354395 |
+| Logical axioms | 26211 |
+| Classes | 22954 |
| Object properties | 7 |
| Data properties | 0 |
| Individuals | 0 |
@@ -32,17 +32,17 @@
| Metric | Value |
| ------ | ----- |
-| AnnotationAssertion | 304981 |
+| AnnotationAssertion | 305207 |
| SubAnnotationPropertyOf | 1 |
-| Declaration | 19556 |
-| SubClassOf | 22779 |
+| Declaration | 22976 |
+| SubClassOf | 26211 |
#### Entity namespaces: axiom counts by namespace
| Metric | Value |
| ------ | ----- |
-| prefix_unknown | 18092 |
+| prefix_unknown | 21512 |
| oboInOwl | 4 |
| owl | 2 |
| xsd | 1 |
@@ -61,8 +61,8 @@
| Metric | Value |
| ------ | ----- |
-| Class | 65082 |
-| ObjectSomeValuesFrom | 17831 |
+| Class | 75366 |
+| ObjectSomeValuesFrom | 21258 |
More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata).
diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md
index ab414780d..19a40f2d7 100644
--- a/docs/metrics/ordo.md
+++ b/docs/metrics/ordo.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/ordo.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ordo.owl
### Entities and axioms
diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md
index f22bf5561..1071ae85f 100644
--- a/docs/reports/mapped_deprecated.md
+++ b/docs/reports/mapped_deprecated.md
@@ -2,12 +2,12 @@
| Ontology | Tot deprecated in Mondo |
|:----------------------------------------------------------|--------------------------:|
| [NCIT](./mapped_deprecated_ncit.md) | 5 |
-| [OMIM](./mapped_deprecated_omim.md) | 44 |
+| [OMIM](./mapped_deprecated_omim.md) | 42 |
+| [DOID](./mapped_deprecated_doid.md) | 3 |
| [ORDO](./mapped_deprecated_ordo.md) | 167 |
| [GARD](./mapped_deprecated_gard.md) | 0 |
| [ICD11FOUNDATION](./mapped_deprecated_icd11foundation.md) | 0 |
| [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 |
-| [DOID](./mapped_deprecated_doid.md) | 0 |
| [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 |
`Ontology`: Name of ontology
diff --git a/docs/reports/mapped_deprecated_doid.md b/docs/reports/mapped_deprecated_doid.md
index d37935d6f..04662edeb 100644
--- a/docs/reports/mapped_deprecated_doid.md
+++ b/docs/reports/mapped_deprecated_doid.md
@@ -2,6 +2,9 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv)
### Mapped deprecated terms
-| mondo_id | source_id | source |
-|:-----------|:---------------------|:-------------------|
-| ID | A oboInOwl:hasDbXref | >A oboInOwl:source |
\ No newline at end of file
+| mondo_id | source_id | source |
+|:--------------|:---------------------|:-------------------------|
+| ID | A oboInOwl:hasDbXref | >A oboInOwl:source |
+| MONDO:0010542 | DOID:0081164 | MONDO:equivalentObsolete |
+| MONDO:0011893 | DOID:0110578 | MONDO:equivalentObsolete |
+| MONDO:0015701 | DOID:0060015 | MONDO:equivalentObsolete |
\ No newline at end of file
diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md
index 9dab9d631..c49e9812a 100644
--- a/docs/reports/mapped_deprecated_omim.md
+++ b/docs/reports/mapped_deprecated_omim.md
@@ -16,7 +16,6 @@
| MONDO:0008126 | OMIM:164891 | MONDO:equivalentObsolete |
| MONDO:0008204 | OMIM:168850 | MONDO:equivalentObsolete |
| MONDO:0008415 | OMIM:181515 | MONDO:equivalentObsolete |
-| MONDO:0009489 | OMIM:244850 | MONDO:equivalentObsolete |
| MONDO:0009535 | OMIM:247440 | MONDO:equivalentObsolete |
| MONDO:0009654 | OMIM:252700 | MONDO:equivalentObsolete |
| MONDO:0010045 | OMIM:270710 | MONDO:equivalentObsolete |
@@ -33,7 +32,6 @@
| MONDO:0010859 | OMIM:600309 | MONDO:equivalentObsolete |
| MONDO:0011111 | OMIM:601563 | MONDO:equivalentObsolete |
| MONDO:0011543 | OMIM:605365 | MONDO:equivalentObsolete |
-| MONDO:0011893 | OMIM:607683 | MONDO:equivalentObsolete |
| MONDO:0011910 | OMIM:607801 | MONDO:equivalentObsolete |
| MONDO:0012461 | OMIM:610269 | MONDO:equivalentObsolete |
| MONDO:0012560 | OMIM:610799 | MONDO:equivalentObsolete |
diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md
index 236ccd19a..1bb6831d9 100644
--- a/docs/reports/migrate.md
+++ b/docs/reports/migrate.md
@@ -2,13 +2,13 @@
| Ontology | Tot |
|:------------------------------------------------|:------|
| [GARD](./migrate_gard.md) | 9,370 |
-| [ORDO](./migrate_ordo.md) | 84 |
-| [DOID](./migrate_doid.md) | 47 |
+| [OMIM](./migrate_omim.md) | 6 |
+| [DOID](./migrate_doid.md) | 53 |
| [ICD11FOUNDATION](./migrate_icd11foundation.md) | 4,594 |
+| [ORDO](./migrate_ordo.md) | 22 |
| [NCIT](./migrate_ncit.md) | 2,209 |
| [ICD10WHO](./migrate_icd10who.md) | 119 |
| [ICD10CM](./migrate_icd10cm.md) | 1,892 |
-| [OMIM](./migrate_omim.md) | 1 |
### Codebook
`Ontology`: Name of ontology
diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md
index a422be034..8682e9fb5 100644
--- a/docs/reports/migrate_doid.md
+++ b/docs/reports/migrate_doid.md
@@ -2,53 +2,59 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/doid.tsv)
### Migratable terms
-| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
-|:--------------|:------------------------------------------------------------------------------------|:---------------------|:---------------------------|:------------------------------------------------------------------------------------|:----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:----------------------------|
-| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
-| MONDO:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 |
-| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 |
-| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | |
-| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | |
-| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 |
-| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 |
-| MONDO:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 |
-| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 |
-| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 |
-| MONDO:0970996 | interstitial lung disease 2 | DOID:0060971 | MONDO:equivalentTo | interstitial lung disease 2 | | MONDO:0015925|MONDO:0000426 |
-| MONDO:0970997 | renal hypomagnesemia 7, with or without dilated cardiomyopathy | DOID:0060972 | MONDO:equivalentTo | renal hypomagnesemia 7, with or without dilated cardiomyopathy | | MONDO:0018100|MONDO:0000426 |
-| MONDO:0971003 | whim syndrome 2 | DOID:0060973 | MONDO:equivalentTo | WHIM syndrome 2 | | MONDO:0003778|MONDO:0006025 |
-| MONDO:0971017 | autosomal recessive robinow syndrome 2 | DOID:0060974 | MONDO:equivalentTo | autosomal recessive Robinow syndrome 2 | | MONDO:0019978|MONDO:0006025 |
-| MONDO:0971018 | polycystic liver disease 2 | DOID:0060975 | MONDO:equivalentTo | polycystic liver disease 2 | | MONDO:0000447 |
-| MONDO:0971019 | polycystic liver disease 3 with or without kidney cysts | DOID:0060976 | MONDO:equivalentTo | polycystic liver disease 3 with or without kidney cysts | | MONDO:0000447 |
-| MONDO:0971020 | polycystic liver disease 4 with or without kidney cysts | DOID:0060977 | MONDO:equivalentTo | polycystic liver disease 4 with or without kidney cysts | | MONDO:0000447 |
-| MONDO:0971021 | primary pigmented nodular adrenocortical disease 1 | DOID:0070546 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 1 | | MONDO:0000426|MONDO:0015999 |
-| MONDO:0971022 | primary pigmented nodular adrenocortical disease 2 | DOID:0070547 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 2 | | MONDO:0000426|MONDO:0015999 |
-| MONDO:0971023 | primary pigmented nodular adrenocortical disease 3 | DOID:0070548 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 3 | | MONDO:0015999 |
-| MONDO:0971024 | primary pigmented nodular adrenocortical disease 4 | DOID:0070549 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 4 | | MONDO:0015999|MONDO:0000426 |
-| MONDO:0971025 | krt1-related nonepidermolytic palmoplantar keratoderma | DOID:0070550 | MONDO:equivalentTo | KRT1-related nonepidermolytic palmoplantar keratoderma | | MONDO:0010962 |
-| MONDO:0971026 | epidermolytic palmoplantar keratoderma 2 | DOID:0070551 | MONDO:equivalentTo | epidermolytic palmoplantar keratoderma 2 | | MONDO:0007758|MONDO:0000426 |
-| MONDO:0971027 | epidermolytic palmoplantar keratoderma 1 | DOID:0070552 | MONDO:equivalentTo | epidermolytic palmoplantar keratoderma 1 | | MONDO:0007758|MONDO:0000426 |
-| MONDO:0971028 | focal palmoplantar and gingival keratosis | DOID:0070553 | MONDO:equivalentTo | focal palmoplantar and gingival keratosis | | MONDO:0006590 |
-| MONDO:0971029 | palmoplantar keratoderma and woolly hair | DOID:0070554 | MONDO:equivalentTo | palmoplantar keratoderma and woolly hair | | MONDO:0010962|MONDO:0006025 |
-| MONDO:0971030 | nagashima-type palmoplantar keratosis | DOID:0070555 | MONDO:equivalentTo | Nagashima-type palmoplantar keratosis | | MONDO:0010962|MONDO:0006025 |
-| MONDO:0971031 | auto-brewery syndrome | DOID:0081455 | MONDO:equivalentTo | auto-brewery syndrome | An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. | MONDO:0006504 |
-| MONDO:0971032 | bladder fermentation syndrome | DOID:0081456 | MONDO:equivalentTo | bladder fermentation syndrome | An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. | MONDO:0006504 |
-| MONDO:0971033 | intrathyroid thymic carcinoma | DOID:0081457 | MONDO:equivalentTo | intrathyroid thymic carcinoma | A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. | MONDO:0015075 |
-| MONDO:0971034 | thyroid gland cribriform morular carcinoma | DOID:0081458 | MONDO:equivalentTo | thyroid gland cribriform morular carcinoma | A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. | MONDO:0015075 |
-| MONDO:0971035 | thyroid gland mixed medullary and follicular cell-derived carcinoma | DOID:0081459 | MONDO:equivalentTo | thyroid gland mixed medullary and follicular cell-derived carcinoma | A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. | MONDO:0015075 |
-| MONDO:0971036 | thyroid gland mucinous carcinoma | DOID:0081460 | MONDO:equivalentTo | thyroid gland mucinous carcinoma | A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. | MONDO:0015075 |
-| MONDO:0971037 | thyroid gland spindle epithelial tumor with thymus-like elements | DOID:0081461 | MONDO:equivalentTo | thyroid gland spindle epithelial tumor with thymus-like elements | A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. | MONDO:0015075 |
-| MONDO:0971156 | fanconi anemia complementation group w | DOID:0060978 | MONDO:equivalentTo | Fanconi anemia complementation group W | | MONDO:0019391|MONDO:0006025 |
-| MONDO:0971157 | fanconi anemia complementation group s | DOID:0060979 | MONDO:equivalentTo | Fanconi anemia complementation group S | | MONDO:0019391|MONDO:0006025 |
-| MONDO:0971158 | polycystic liver disease 1 | DOID:0060980 | MONDO:equivalentTo | polycystic liver disease 1 | | MONDO:0000447 |
-| MONDO:0971159 | mosaic variegated aneuploidy syndrome 4 | DOID:0060981 | MONDO:equivalentTo | mosaic variegated aneuploidy syndrome 4 | | MONDO:0000141|MONDO:0006025 |
-| MONDO:0971160 | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | DOID:0060982 | MONDO:equivalentTo | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | | MONDO:0000141 |
-| MONDO:0971161 | sitosterolemia 2 | DOID:0060983 | MONDO:equivalentTo | sitosterolemia 2 | | MONDO:0005020|MONDO:0006025 |
-| MONDO:0971162 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | DOID:0070556 | MONDO:equivalentTo | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | | MONDO:0009133 |
-| MONDO:0971163 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 | DOID:0070557 | MONDO:equivalentTo | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 | | MONDO:0009133 |
-| MONDO:0971164 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 | DOID:0070558 | MONDO:equivalentTo | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 | | MONDO:0009133 |
-| MONDO:0971165 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | DOID:0070559 | MONDO:equivalentTo | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | | MONDO:0009133 |
-| MONDO:0971166 | glucose transporter type 1 deficiency syndrome | DOID:0070560 | MONDO:equivalentTo | glucose transporter type 1 deficiency syndrome | | MONDO:0000429|MONDO:0002908 |
-| MONDO:0971167 | fanconi-bickel syndrome | DOID:0070562 | MONDO:equivalentTo | Fanconi-Bickel syndrome | | MONDO:0006025|MONDO:0002908 |
-| MONDO:0971168 | glucose-galactose malabsorption | DOID:0070563 | MONDO:equivalentTo | glucose-galactose malabsorption | | MONDO:0002908|MONDO:0006025 |
-| MONDO:0971183 | autosomal recessive pseudohypoaldosteronism type 1 | DOID:0060854 | MONDO:equivalentTo | autosomal recessive pseudohypoaldosteronism type 1 | | MONDO:0018638|MONDO:0006025 |
\ No newline at end of file
+| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
+|:--------------|:--------------------------------------------------------------------|:---------------------|:---------------------------|:--------------------------------------------------------------------|:----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:----------------------------|
+| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
+| MONDO:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 |
+| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 |
+| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | |
+| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | |
+| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 |
+| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 |
+| MONDO:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 |
+| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 |
+| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 |
+| MONDO:0971031 | auto-brewery syndrome | DOID:0081455 | MONDO:equivalentTo | auto-brewery syndrome | An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. | MONDO:0006504 |
+| MONDO:0971032 | bladder fermentation syndrome | DOID:0081456 | MONDO:equivalentTo | bladder fermentation syndrome | An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. | MONDO:0006504 |
+| MONDO:0971033 | intrathyroid thymic carcinoma | DOID:0081457 | MONDO:equivalentTo | intrathyroid thymic carcinoma | A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. | MONDO:0015075 |
+| MONDO:0971034 | thyroid gland cribriform morular carcinoma | DOID:0081458 | MONDO:equivalentTo | thyroid gland cribriform morular carcinoma | A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. | MONDO:0015075 |
+| MONDO:0971035 | thyroid gland mixed medullary and follicular cell-derived carcinoma | DOID:0081459 | MONDO:equivalentTo | thyroid gland mixed medullary and follicular cell-derived carcinoma | A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. | MONDO:0015075 |
+| MONDO:0971036 | thyroid gland mucinous carcinoma | DOID:0081460 | MONDO:equivalentTo | thyroid gland mucinous carcinoma | A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. | MONDO:0015075 |
+| MONDO:0971183 | autosomal recessive pseudohypoaldosteronism type 1 | DOID:0060854 | MONDO:equivalentTo | autosomal recessive pseudohypoaldosteronism type 1 | | MONDO:0018638|MONDO:0006025 |
+| MONDO:0975707 | idiopathic pulmonary fibrosis | DOID:0050156 | MONDO:equivalentTo | idiopathic pulmonary fibrosis | A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. | MONDO:0002771|MONDO:0000426 |
+| MONDO:0975708 | dialysis disequilibrium syndrome | DOID:0070564 | MONDO:equivalentTo | dialysis disequilibrium syndrome | | MONDO:0002254 |
+| MONDO:0975709 | spermatogenic failure 66 | DOID:0070565 | MONDO:equivalentTo | spermatogenic failure 66 | | MONDO:0015746|MONDO:0006025 |
+| MONDO:0975710 | spermatogenic failure 67 | DOID:0070566 | MONDO:equivalentTo | spermatogenic failure 67 | | MONDO:0015746|MONDO:0006025 |
+| MONDO:0975711 | spermatogenic failure 68 | DOID:0070567 | MONDO:equivalentTo | spermatogenic failure 68 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975712 | spermatogenic failure 69 | DOID:0070568 | MONDO:equivalentTo | spermatogenic failure 69 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975713 | spermatogenic failure 70 | DOID:0070569 | MONDO:equivalentTo | spermatogenic failure 70 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975714 | spermatogenic failure 71 | DOID:0070570 | MONDO:equivalentTo | spermatogenic failure 71 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975715 | spermatogenic failure 72 | DOID:0070571 | MONDO:equivalentTo | spermatogenic failure 72 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975716 | spermatogenic failure 73 | DOID:0070572 | MONDO:equivalentTo | spermatogenic failure 73 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975717 | spermatogenic failure 74 | DOID:0070573 | MONDO:equivalentTo | spermatogenic failure 74 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975718 | spermatogenic failure 75 | DOID:0070574 | MONDO:equivalentTo | spermatogenic failure 75 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975719 | spermatogenic failure 76 | DOID:0070575 | MONDO:equivalentTo | spermatogenic failure 76 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975720 | spermatogenic failure 77 | DOID:0070576 | MONDO:equivalentTo | spermatogenic failure 77 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975721 | spermatogenic failure 78 | DOID:0070577 | MONDO:equivalentTo | spermatogenic failure 78 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975722 | spermatogenic failure 79 | DOID:0070578 | MONDO:equivalentTo | spermatogenic failure 79 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975723 | spermatogenic failure 80 | DOID:0070579 | MONDO:equivalentTo | spermatogenic failure 80 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975724 | spermatogenic failure 81 | DOID:0070580 | MONDO:equivalentTo | spermatogenic failure 81 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975725 | spermatogenic failure 82 | DOID:0070581 | MONDO:equivalentTo | spermatogenic failure 82 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975726 | spermatogenic failure 83 | DOID:0070582 | MONDO:equivalentTo | spermatogenic failure 83 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975727 | spermatogenic failure 84 | DOID:0070583 | MONDO:equivalentTo | spermatogenic failure 84 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975728 | spermatogenic failure 85 | DOID:0070584 | MONDO:equivalentTo | spermatogenic failure 85 | | MONDO:0015746|MONDO:0006025 |
+| MONDO:0975729 | spermatogenic failure 86 | DOID:0070585 | MONDO:equivalentTo | spermatogenic failure 86 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975730 | spermatogenic failure 87 | DOID:0070586 | MONDO:equivalentTo | spermatogenic failure 87 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975731 | spermatogenic failure 88 | DOID:0070587 | MONDO:equivalentTo | spermatogenic failure 88 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975732 | spermatogenic failure 89 | DOID:0070588 | MONDO:equivalentTo | spermatogenic failure 89 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975733 | spermatogenic failure 90 | DOID:0070589 | MONDO:equivalentTo | spermatogenic failure 90 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975734 | spermatogenic failure 91 | DOID:0070590 | MONDO:equivalentTo | spermatogenic failure 91 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975735 | spermatogenic failure 92 | DOID:0070591 | MONDO:equivalentTo | spermatogenic failure 92 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975736 | spermatogenic failure 93 | DOID:0070592 | MONDO:equivalentTo | spermatogenic failure 93 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975737 | spermatogenic failure 94 | DOID:0070593 | MONDO:equivalentTo | spermatogenic failure 94 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975738 | spermatogenic failure 95 | DOID:0070594 | MONDO:equivalentTo | spermatogenic failure 95 | | MONDO:0004983|MONDO:0006025 |
+| MONDO:0975739 | x-linked spermatogenic failure 4 | DOID:0070595 | MONDO:equivalentTo | X-linked spermatogenic failure 4 | | MONDO:0004983|MONDO:0000425 |
+| MONDO:0975740 | x-linked spermatogenic failure 5 | DOID:0070596 | MONDO:equivalentTo | X-linked spermatogenic failure 5 | | MONDO:0004983|MONDO:0000425 |
+| MONDO:0975741 | x-linked spermatogenic failure 6 | DOID:0070597 | MONDO:equivalentTo | X-linked spermatogenic failure 6 | | MONDO:0004983|MONDO:0000425 |
+| MONDO:0975742 | x-linked spermatogenic failure 7 | DOID:0070598 | MONDO:equivalentTo | X-linked spermatogenic failure 7 | | MONDO:0004983|MONDO:0020605 |
+| MONDO:0975743 | x-linked spermatogenic failure 8 | DOID:0070599 | MONDO:equivalentTo | X-linked spermatogenic failure 8 | | MONDO:0004983|MONDO:0000425 |
\ No newline at end of file
diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md
index c6465f880..c7374786a 100644
--- a/docs/reports/migrate_omim.md
+++ b/docs/reports/migrate_omim.md
@@ -2,7 +2,12 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.tsv)
### Migratable terms
-| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
-|:--------------|:--------------------------------------|:---------------------|:---------------------------|:--------------------------------------|:--------------|:----------|
-| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
-| MONDO:0975705 | otofacial neurodevelopmental syndrome | OMIM:620910 | MONDO:equivalentTo | otofacial neurodevelopmental syndrome | | |
\ No newline at end of file
+| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
+|:--------------|:--------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:--------------------------------------------------------------------------------------------------|:--------------|:--------------|
+| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
+| MONDO:0975705 | otofacial neurodevelopmental syndrome | OMIM:620910 | MONDO:equivalentTo | otofacial neurodevelopmental syndrome | | |
+| MONDO:0975745 | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | OMIM:620888 | MONDO:equivalentTo | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | | |
+| MONDO:0975746 | spastic paraplegia 92, autosomal recessive | OMIM:620911 | MONDO:equivalentTo | spastic paraplegia 92, autosomal recessive | | MONDO:0019064 |
+| MONDO:0975747 | spermatogenic failure 95 | OMIM:620917 | MONDO:equivalentTo | spermatogenic failure 95 | | MONDO:0004983 |
+| MONDO:0975748 | parkinson disease 26, autosomal dominant, susceptibility to | OMIM:620923 | MONDO:equivalentTo | parkinson disease 26, autosomal dominant, susceptibility to | | MONDO:0005180 |
+| MONDO:0975749 | immunodeficiency 125 | OMIM:620926 | MONDO:equivalentTo | immunodeficiency 125 | | MONDO:0021094 |
\ No newline at end of file
diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md
index db9922060..56b73bc33 100644
--- a/docs/reports/migrate_ordo.md
+++ b/docs/reports/migrate_ordo.md
@@ -2,90 +2,28 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/ordo.tsv)
### Migratable terms
-| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset |
-|:--------------|:----------------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:----------------------------------------------------------------------------------------------------------------------|:-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:------------------------------------------------------------------------------------|:----------------------|
-| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | |
-| MONDO:0971047 | prc-2 complex-related overgrowth spectrum | Orphanet:659387 | MONDO:equivalentTo | PRC-2 complex-related overgrowth spectrum | | MONDO:8000033|MONDO:0800091|MONDO:0015159|MONDO:0035863|MONDO:0019716 | group of disorders |
-| MONDO:0971048 | facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | Orphanet:659609 | MONDO:equivalentTo | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | | MONDO:8000034|MONDO:0000001|MONDO:0035863|MONDO:0015159|MONDO:0017120 | disorder |
-| MONDO:0971049 | single isolated optic neuritis | Orphanet:659626 | MONDO:equivalentTo | Single isolated optic neuritis | | MONDO:0044688|MONDO:8000031 | subtype of a disorder |
-| MONDO:0971050 | relapsing isolated optic neuritis | Orphanet:659634 | MONDO:equivalentTo | Relapsing isolated optic neuritis | | MONDO:8000031|MONDO:0044688 | subtype of a disorder |
-| MONDO:0971052 | erythropoietic porphyria | Orphanet:659681 | MONDO:equivalentTo | Erythropoietic porphyria | | MONDO:0019142|MONDO:8000033 | group of disorders |
-| MONDO:0971054 | intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | Orphanet:659702 | MONDO:equivalentTo | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | | MONDO:0015329|MONDO:0015159|MONDO:8000034|MONDO:0035863|MONDO:0026187|MONDO:8000032 | disorder |
-| MONDO:0971055 | rare yersiniosis | Orphanet:659712 | MONDO:equivalentTo | Rare yersiniosis | | MONDO:8000033|MONDO:0015575 | group of disorders |
-| MONDO:0971056 | ocular surface squamous neoplasia | Orphanet:659744 | MONDO:equivalentTo | Ocular surface squamous neoplasia | | MONDO:0000001|MONDO:8000034|MONDO:0015121 | disorder |
-| MONDO:0971058 | verruga peruana | Orphanet:659759 | MONDO:equivalentTo | Verruga peruana | A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with Bartonella bacilliformis. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low. | MONDO:0018984|MONDO:8000031 | subtype of a disorder |
-| MONDO:0971060 | multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | Orphanet:659904 | MONDO:equivalentTo | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0015159 | disorder |
-| MONDO:0971062 | sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | Orphanet:659975 | MONDO:equivalentTo | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | | MONDO:0035863|MONDO:0015159|MONDO:8000032|MONDO:0019589|MONDO:8000034 | disorder |
-| MONDO:0971063 | developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | Orphanet:660017 | MONDO:equivalentTo | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | | MONDO:0035862|MONDO:8000034|MONDO:0000001|MONDO:0018265 | disorder |
-| MONDO:0971064 | orofacial clefting-cardiac anomalies-facial dysmorphism syndrome | Orphanet:660021 | MONDO:equivalentTo | Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome | | MONDO:0035863|MONDO:8000032|MONDO:0015335|MONDO:0015159|MONDO:8000034 | disorder |
-| MONDO:0971066 | megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | Orphanet:661412 | MONDO:equivalentTo | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | | MONDO:0018035|MONDO:8000034|MONDO:0020111|MONDO:0000001|MONDO:0017313 | disorder |
-| MONDO:0971067 | mbd4-related tumor predisposition syndrome | Orphanet:661526 | MONDO:equivalentTo | MBD4-related tumor predisposition syndrome | | MONDO:8000034|MONDO:0015356|MONDO:0000001 | disorder |
-| MONDO:0971068 | phelan-mcdermid syndrome due to 22q13.3 deletion | Orphanet:662169 | MONDO:equivalentTo | Phelan-McDermid syndrome due to 22q13.3 deletion | | MONDO:0022760|MONDO:0011652|MONDO:8000031 | subtype of a disorder |
-| MONDO:0971069 | phelan-mcdermid syndrome due to shank3 mutation | Orphanet:662172 | MONDO:equivalentTo | Phelan-McDermid syndrome due to SHANK3 mutation | | MONDO:0011652|MONDO:8000031 | subtype of a disorder |
-| MONDO:0971070 | macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | Orphanet:662175 | MONDO:equivalentTo | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | | MONDO:0035863|MONDO:8000032|MONDO:0015159|MONDO:8000034 | disorder |
-| MONDO:0971071 | microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome | Orphanet:662179 | MONDO:equivalentTo | Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome | | MONDO:0035863|MONDO:0015159|MONDO:0019589|MONDO:0017119|MONDO:8000032|MONDO:8000034 | disorder |
-| MONDO:0971072 | congenital muscular dystrophy-cataract-intellectual disability syndrome | Orphanet:662184 | MONDO:equivalentTo | Congenital muscular dystrophy-cataract-intellectual disability syndrome | | MONDO:0000001|MONDO:0020225|MONDO:0035862|MONDO:0019950|MONDO:8000034 | disorder |
-| MONDO:0971073 | neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | Orphanet:662189 | MONDO:equivalentTo | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0017120|MONDO:0015159 | disorder |
-| MONDO:0971074 | neurodevelopmental delay-intellectual disability-skeletal defects syndrome | Orphanet:662198 | MONDO:equivalentTo | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome | | MONDO:8000034|MONDO:8000032|MONDO:0035863|MONDO:0015159 | disorder |
-| MONDO:0971076 | mucopolysaccharidosis type 10 | Orphanet:662216 | MONDO:equivalentTo | Mucopolysaccharidosis type 10 | | MONDO:0019058|MONDO:0000001|MONDO:0800088|MONDO:0035862|MONDO:0019249|MONDO:8000034 | disorder |
-| MONDO:0971077 | episodic memory defect leukoencephalopathy | Orphanet:662229 | MONDO:equivalentTo | Episodic memory defect leukoencephalopathy | | MONDO:8000034|MONDO:0019046|MONDO:0000001 | disorder |
-| MONDO:0971080 | grisel syndrome | Orphanet:662255 | MONDO:equivalentTo | Grisel syndrome | | MONDO:0032013|MONDO:8000034|MONDO:0016434 | disorder |
-| MONDO:0971082 | gastric duplication | Orphanet:662376 | MONDO:equivalentTo | Gastric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder |
-| MONDO:0971083 | gallbladder duplication | Orphanet:662388 | MONDO:equivalentTo | Gallbladder duplication | | MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 | disorder |
-| MONDO:0971084 | colonic duplication | Orphanet:662392 | MONDO:equivalentTo | Colonic duplication | | MONDO:0015211|MONDO:8000030|MONDO:8000034 | disorder |
-| MONDO:0971085 | pyloric duplication | Orphanet:662405 | MONDO:equivalentTo | Pyloric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder |
-| MONDO:0971086 | small intestine duplication | Orphanet:662456 | MONDO:equivalentTo | Small intestine duplication | | MONDO:8000030|MONDO:0015211|MONDO:8000034 | disorder |
-| MONDO:0971087 | placenta accreta spectrum disorder | Orphanet:662721 | MONDO:equivalentTo | Placenta accreta spectrum disorder | | MONDO:0000001|MONDO:0015582|MONDO:8000034 | disorder |
-| MONDO:0971088 | motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | Orphanet:662762 | MONDO:equivalentTo | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0017119|MONDO:0035863|MONDO:0015159 | disorder |
-| MONDO:0971089 | vasa previa | Orphanet:662786 | MONDO:equivalentTo | Vasa previa | | MONDO:0015582|MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971090 | intellectual disability-speech delay-dysmorphic features-t cell abnormalities syndrome | Orphanet:662829 | MONDO:equivalentTo | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome | | MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034 | disorder |
-| MONDO:0971091 | acute megakaryoblastic leukemia in adult | Orphanet:662934 | MONDO:equivalentTo | Acute megakaryoblastic leukemia in adult | | MONDO:8000031|MONDO:0018872 | subtype of a disorder |
-| MONDO:0971092 | soft and hard cleft palate | Orphanet:664372 | MONDO:equivalentTo | Soft and hard cleft palate | | MONDO:0016064|MONDO:8000034|MONDO:8000030 | disorder |
-| MONDO:0971093 | mgp-related spondyloepiphyseal dysplasia | Orphanet:664377 | MONDO:equivalentTo | MGP-related spondyloepiphyseal dysplasia | | MONDO:0015329|MONDO:8000032|MONDO:0026187|MONDO:8000034 | disorder |
-| MONDO:0971094 | cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation | Orphanet:664401 | MONDO:equivalentTo | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation | | MONDO:8000031|MONDO:0016460 | subtype of a disorder |
-| MONDO:0971095 | 6q25.1 microdeletion syndrome | Orphanet:664404 | MONDO:equivalentTo | 6q25.1 microdeletion syndrome | | MONDO:0016460|MONDO:8000031|MONDO:0016905 | subtype of a disorder |
-| MONDO:0971096 | brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | Orphanet:664410 | MONDO:equivalentTo | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | | MONDO:8000034|MONDO:0017120|MONDO:0035863|MONDO:8000032|MONDO:0015159 | disorder |
-| MONDO:0971097 | neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | Orphanet:664430 | MONDO:equivalentTo | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | | MONDO:8000032|MONDO:0035863|MONDO:0015159|MONDO:8000034 | disorder |
-| MONDO:0971099 | inherited cancer-predisposing lymphoproliferative syndrome | Orphanet:664450 | MONDO:equivalentTo | Inherited cancer-predisposing lymphoproliferative syndrome | | MONDO:8000033|MONDO:0015356 | group of disorders |
-| MONDO:0971100 | immune dysregulation disease with immunodeficiency associated with ebv susceptibility | Orphanet:664456 | MONDO:equivalentTo | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | | MONDO:8000033|MONDO:0015710 | group of disorders |
-| MONDO:0971103 | nicolau syndrome | Orphanet:664787 | MONDO:equivalentTo | Nicolau syndrome | | MONDO:8000034|MONDO:0032013|MONDO:0019546 | disorder |
-| MONDO:0971105 | neonatal renal venous thrombosis | Orphanet:664912 | MONDO:equivalentTo | Neonatal renal venous thrombosis | | MONDO:8000034|MONDO:0000001|MONDO:0019750 | disorder |
-| MONDO:0971106 | congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome | Orphanet:664923 | MONDO:equivalentTo | Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome | | MONDO:0015168|MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034|MONDO:0017119 | disorder |
-| MONDO:0971107 | common arterial trunk with aortic dominance | Orphanet:665044 | MONDO:equivalentTo | Common arterial trunk with aortic dominance | | MONDO:8000031|MONDO:0018072 | subtype of a disorder |
-| MONDO:0971108 | common arterial trunk with pulmonary dominance and interrupted aortic arch | Orphanet:665058 | MONDO:equivalentTo | Common arterial trunk with pulmonary dominance and interrupted aortic arch | | MONDO:8000031|MONDO:0018072 | subtype of a disorder |
-| MONDO:0971109 | isolated congenital femoral bifurcation | Orphanet:667589 | MONDO:equivalentTo | Isolated congenital femoral bifurcation | | MONDO:8000034|MONDO:8000030|MONDO:0017420 | disorder |
-| MONDO:0971111 | intraoral basal cell carcinoma | Orphanet:667678 | MONDO:equivalentTo | Intraoral basal cell carcinoma | | MONDO:0000001|MONDO:0017797|MONDO:8000034 | disorder |
-| MONDO:0971112 | craniosynostosis-facial dysmorphism-brachydactyly syndrome | Orphanet:672979 | MONDO:equivalentTo | Craniosynostosis-facial dysmorphism-brachydactyly syndrome | | MONDO:8000032|MONDO:0015338|MONDO:8000034 | disorder |
-| MONDO:0971113 | craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome | Orphanet:672985 | MONDO:equivalentTo | Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome | | MONDO:0015338|MONDO:8000032|MONDO:8000034 | disorder |
-| MONDO:0971115 | benign vascular tumor | Orphanet:673470 | MONDO:equivalentTo | Benign vascular tumor | | MONDO:8000033|MONDO:0016228 | group of disorders |
-| MONDO:0971116 | borderline vascular tumor | Orphanet:673473 | MONDO:equivalentTo | Borderline vascular tumor | | MONDO:8000033|MONDO:0016228 | group of disorders |
-| MONDO:0971118 | pilocytic astrocytoma with histological features of anaplasia | Orphanet:673585 | MONDO:equivalentTo | Pilocytic astrocytoma with histological features of anaplasia | | MONDO:8000031|MONDO:0016691 | subtype of a disorder |
-| MONDO:0971119 | proteoglycan-related bone disorder | Orphanet:674499 | MONDO:equivalentTo | Proteoglycan-related bone disorder | | MONDO:8000033|MONDO:0031799 | group of disorders |
-| MONDO:0971120 | syndrome with congenital phagocyte functional defect as a major feature | Orphanet:674648 | MONDO:equivalentTo | Syndrome with congenital phagocyte functional defect as a major feature | | MONDO:8000033|MONDO:0015978 | group of disorders |
-| MONDO:0971121 | early-onset autoinflammatory syndrome due to a20 haploinsufficiency | Orphanet:674762 | MONDO:equivalentTo | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | | MONDO:0000001|MONDO:0017957|MONDO:8000034|MONDO:0017370|MONDO:0017369 | disorder |
-| MONDO:0971122 | non-syndromic congenital phagocyte functional defect | Orphanet:674896 | MONDO:equivalentTo | Non-syndromic congenital phagocyte functional defect | | MONDO:8000033|MONDO:0015978 | group of disorders |
-| MONDO:0971123 | isolated retinal racemose hemangioma | Orphanet:674924 | MONDO:equivalentTo | Isolated retinal racemose hemangioma | | MONDO:0000001|MONDO:8000034 | disorder |
-| MONDO:0971124 | perifoveal exudative vascular anomalous complex | Orphanet:674930 | MONDO:equivalentTo | Perifoveal exudative vascular anomalous complex | | MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971125 | torpedo maculopathy | Orphanet:674935 | MONDO:equivalentTo | Torpedo Maculopathy | | MONDO:0000001|MONDO:8000034 | disorder |
-| MONDO:0971126 | isolated angioid streaks | Orphanet:674943 | MONDO:equivalentTo | Isolated angioid streaks | | MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971127 | diffuse unilateral subacute neuroretinitis | Orphanet:674947 | MONDO:equivalentTo | Diffuse unilateral subacute neuroretinitis | | MONDO:0015577|MONDO:0000001|MONDO:8000034 | disorder |
-| MONDO:0971128 | multiple evanescent white dot syndrome | Orphanet:674953 | MONDO:equivalentTo | Multiple evanescent white dot syndrome | | MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971129 | stellate multiform amelanotic choroidopathy | Orphanet:674958 | MONDO:equivalentTo | Stellate multiform amelanotic choroidopathy | | MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971130 | choroidal osteoma | Orphanet:674965 | MONDO:equivalentTo | Choroidal osteoma | | MONDO:8000034|MONDO:0000001|MONDO:0015121 | disorder |
-| MONDO:0971131 | bilateral diffuse uveal melanocytic proliferation disease | Orphanet:674968 | MONDO:equivalentTo | Bilateral diffuse uveal melanocytic proliferation disease | | MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971132 | spinocerebellar ataxia type 27b | Orphanet:675216 | MONDO:equivalentTo | Spinocerebellar ataxia type 27B | | MONDO:0019792|MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971133 | isolated segmental infantile hemangioma | Orphanet:675380 | MONDO:equivalentTo | Isolated segmental infantile hemangioma | | MONDO:0016223|MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971135 | tlr8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome | Orphanet:675628 | MONDO:equivalentTo | TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome | | MONDO:8000034|MONDO:0000001|MONDO:0018032|MONDO:0020083 | disorder |
-| MONDO:0971136 | severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to srp54 deficiency | Orphanet:675767 | MONDO:equivalentTo | Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency | | MONDO:0035862|MONDO:0018032|MONDO:8000034|MONDO:0000001 | disorder |
-| MONDO:0971137 | severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | Orphanet:675775 | MONDO:equivalentTo | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | | MONDO:0015159|MONDO:0016404|MONDO:0035863|MONDO:0020076|MONDO:0000001|MONDO:8000034 | disorder |
-| MONDO:0971138 | progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to fyve-defective rbsn | Orphanet:675782 | MONDO:equivalentTo | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN | | MONDO:8000034|MONDO:0017739|MONDO:0035863|MONDO:0000001|MONDO:0015159 | disorder |
-| MONDO:0971139 | adenomatoid tumour of the pleura | Orphanet:675814 | MONDO:equivalentTo | Adenomatoid tumour of the pleura | | MONDO:8000034|MONDO:0000001|MONDO:0015119 | disorder |
-| MONDO:0971140 | well-differentiated papillary mesothelial tumour of the pleura | Orphanet:675822 | MONDO:equivalentTo | Well-differentiated papillary mesothelial tumour of the pleura | | MONDO:8000034|MONDO:0000001|MONDO:0015119 | disorder |
-| MONDO:0971141 | localized pleural mesothelioma | Orphanet:675833 | MONDO:equivalentTo | Localized pleural mesothelioma | | MONDO:8000031|MONDO:0006292 | subtype of a disorder |
-| MONDO:0971142 | diffused pleural mesothelioma | Orphanet:675837 | MONDO:equivalentTo | Diffused pleural mesothelioma | | MONDO:8000031|MONDO:0006292 | subtype of a disorder |
-| MONDO:0971143 | pleural mesothelioma in situ | Orphanet:675841 | MONDO:equivalentTo | Pleural mesothelioma in situ | | MONDO:8000031|MONDO:0006292 | subtype of a disorder |
-| MONDO:0971144 | primary benign peritoneal tumor | Orphanet:676030 | MONDO:equivalentTo | Primary benign peritoneal tumor | | MONDO:8000033|MONDO:0015682 | group of disorders |
-| MONDO:0971145 | peritoneal mesothelioma in situ | Orphanet:676036 | MONDO:equivalentTo | Peritoneal mesothelioma in situ | | MONDO:8000034|MONDO:0000001|MONDO:0015683 | disorder |
-| MONDO:0971146 | combined immunodeficiency due to foxn1 haploinsufficiency | Orphanet:676039 | MONDO:equivalentTo | Combined immunodeficiency due to FOXN1 haploinsufficiency | | MONDO:8000034|MONDO:0018814|MONDO:0000001 | disorder |
-| MONDO:0971147 | x-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency | Orphanet:676125 | MONDO:equivalentTo | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency | | MONDO:8000034|MONDO:0017957|MONDO:0000001|MONDO:0033967 | disorder |
-| MONDO:0971154 | hepatic cutaneous porphyria | Orphanet:659698 | MONDO:equivalentTo | Hepatic cutaneous porphyria | | MONDO:0002520|MONDO:8000033 | group of disorders |
\ No newline at end of file
+| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset |
+|:--------------|:-------------------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:-------------------------------------------------------------------------------------------------------------------------|:--------------|:--------------------------------------------------------|:----------------------|
+| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | |
+| MONDO:0971055 | rare yersiniosis | Orphanet:659712 | MONDO:equivalentTo | Rare yersiniosis | | MONDO:8000033|MONDO:0015575 | group of disorders |
+| MONDO:0971082 | gastric duplication | Orphanet:662376 | MONDO:equivalentTo | Gastric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder |
+| MONDO:0971083 | gallbladder duplication | Orphanet:662388 | MONDO:equivalentTo | Gallbladder duplication | | MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 | disorder |
+| MONDO:0971084 | colonic duplication | Orphanet:662392 | MONDO:equivalentTo | Colonic duplication | | MONDO:0015211|MONDO:8000030|MONDO:8000034 | disorder |
+| MONDO:0971085 | pyloric duplication | Orphanet:662405 | MONDO:equivalentTo | Pyloric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder |
+| MONDO:0971086 | small intestine duplication | Orphanet:662456 | MONDO:equivalentTo | Small intestine duplication | | MONDO:8000030|MONDO:0015211|MONDO:8000034 | disorder |
+| MONDO:0971089 | vasa previa | Orphanet:662786 | MONDO:equivalentTo | Vasa previa | | MONDO:0015582|MONDO:8000034|MONDO:0000001 | disorder |
+| MONDO:0971099 | inherited cancer-predisposing lymphoproliferative syndrome | Orphanet:664450 | MONDO:equivalentTo | Inherited cancer-predisposing lymphoproliferative syndrome | | MONDO:8000033|MONDO:0015356 | group of disorders |
+| MONDO:0971100 | immune dysregulation disease with immunodeficiency associated with ebv susceptibility | Orphanet:664456 | MONDO:equivalentTo | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | | MONDO:8000033|MONDO:0015710 | group of disorders |
+| MONDO:0971109 | isolated congenital femoral bifurcation | Orphanet:667589 | MONDO:equivalentTo | Isolated congenital femoral bifurcation | | MONDO:8000034|MONDO:8000030|MONDO:0017420 | disorder |
+| MONDO:0971120 | syndrome with congenital phagocyte functional defect as a major feature | Orphanet:674648 | MONDO:equivalentTo | Syndrome with congenital phagocyte functional defect as a major feature | | MONDO:8000033|MONDO:0015978 | group of disorders |
+| MONDO:0971122 | non-syndromic congenital phagocyte functional defect | Orphanet:674896 | MONDO:equivalentTo | Non-syndromic congenital phagocyte functional defect | | MONDO:8000033|MONDO:0015978 | group of disorders |
+| MONDO:0971144 | primary benign peritoneal tumor | Orphanet:676030 | MONDO:equivalentTo | Primary benign peritoneal tumor | | MONDO:8000033|MONDO:0015682 | group of disorders |
+| MONDO:0975751 | brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to mef2c mutation | Orphanet:664416 | MONDO:equivalentTo | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation | | MONDO:0013266|MONDO:8000031 | subtype of a disorder |
+| MONDO:0975752 | littoral cell hemangioma of the spleen | Orphanet:673538 | MONDO:equivalentTo | Littoral cell hemangioma of the spleen | | MONDO:0000001|MONDO:0971115|MONDO:8000034 | disorder |
+| MONDO:0975753 | papillary hemangioma | Orphanet:673543 | MONDO:equivalentTo | Papillary hemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder |
+| MONDO:0975754 | pseudomyogenic hemangioendothelioma | Orphanet:673556 | MONDO:equivalentTo | Pseudomyogenic hemangioendothelioma | | MONDO:0971116|MONDO:8000034|MONDO:0018729|MONDO:0000001 | disorder |
+| MONDO:0975755 | eccrine angiomatous hamartoma | Orphanet:673568 | MONDO:equivalentTo | Eccrine angiomatous hamartoma | | MONDO:8000034|MONDO:0000001|MONDO:0019300|MONDO:0971115 | disorder |
+| MONDO:0975756 | reactive angioendotheliomatosis | Orphanet:673574 | MONDO:equivalentTo | Reactive angioendotheliomatosis | | MONDO:8000034|MONDO:0971115|MONDO:0000001 | disorder |
+| MONDO:0975757 | anastomosing haemangioma | Orphanet:675359 | MONDO:equivalentTo | Anastomosing haemangioma | | MONDO:8000034|MONDO:0971115|MONDO:0000001|MONDO:0018729 | disorder |
+| MONDO:0975758 | microvenular haemangioma | Orphanet:675369 | MONDO:equivalentTo | Microvenular haemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder |
+| MONDO:0975759 | acquired elastotic haemangioma | Orphanet:675597 | MONDO:equivalentTo | Acquired elastotic haemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder |
\ No newline at end of file
diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md
index 5318c8fe0..8edb1c95a 100644
--- a/docs/reports/unmapped.md
+++ b/docs/reports/unmapped.md
@@ -6,9 +6,9 @@
| [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 57,713 | 0 | 5,594 | 5,594 | 52,119 | 4,107 | 48,012 | 92.1% |
| [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,216 | 15,965 | 3,675 | 12,290 | 77.0% |
| [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% |
-| [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,257 | 9,291 | 9,133 | 158 | 1.7% |
-| [DOID](./unmapped_doid.md) | 14,096 | 2,656 | 2,484 | 2,474 | 11,438 | 11,390 | 48 | 0.4% |
-| [OMIM](./unmapped_omim.md) | 29,424 | 19,306 | 1,366 | 1,322 | 8,753 | 8,752 | 1 | 0.0% |
+| [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,257 | 9,291 | 9,205 | 86 | 0.9% |
+| [DOID](./unmapped_doid.md) | 14,132 | 2,660 | 2,488 | 2,475 | 11,470 | 11,417 | 53 | 0.5% |
+| [OMIM](./unmapped_omim.md) | 29,452 | 19,329 | 1,366 | 1,324 | 8,758 | 8,752 | 6 | 0.1% |
`Ontology`: Name of ontology
`Tot terms`: Total terms in ontology
diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md
index 221f2914f..52e6b8301 100644
--- a/docs/reports/unmapped_doid.md
+++ b/docs/reports/unmapped_doid.md
@@ -2,53 +2,58 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapping_status.tsv)
### Unmapped mappable terms _(!excluded, !deprecated)_
-| subject_id | subject_label |
-|:-------------|:------------------------------------------------------------------------------------|
-| DOID:0060979 | Fanconi anemia complementation group S |
-| DOID:0060978 | Fanconi anemia complementation group W |
-| DOID:0070562 | Fanconi-Bickel syndrome |
-| DOID:0070550 | KRT1-related nonepidermolytic palmoplantar keratoderma |
-| DOID:0070555 | Nagashima-type palmoplantar keratosis |
-| DOID:0060973 | WHIM syndrome 2 |
-| DOID:2934 | aleutian mink disease |
-| DOID:0081455 | auto-brewery syndrome |
-| DOID:0060974 | autosomal recessive Robinow syndrome 2 |
-| DOID:0060854 | autosomal recessive pseudohypoaldosteronism type 1 |
-| DOID:0081456 | bladder fermentation syndrome |
-| DOID:5154 | borna disease |
-| DOID:0070556 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 |
-| DOID:0070557 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 |
-| DOID:0070558 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 |
-| DOID:0070559 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 |
-| DOID:0060160 | childhood spinal muscular atrophy |
-| DOID:0111368 | cholesterol-ester transfer protein deficiency |
-| DOID:2536 | chronic inflammatory demyelinating polyneuritis |
-| DOID:4668 | congenital kyphosis |
-| DOID:0070552 | epidermolytic palmoplantar keratoderma 1 |
-| DOID:0070551 | epidermolytic palmoplantar keratoderma 2 |
-| DOID:0070553 | focal palmoplantar and gingival keratosis |
-| DOID:0070560 | glucose transporter type 1 deficiency syndrome |
-| DOID:0070561 | glucose transporter type 1 deficiency syndrome 1 |
-| DOID:0070563 | glucose-galactose malabsorption |
-| DOID:0060971 | interstitial lung disease 2 |
-| DOID:0081457 | intrathyroid thymic carcinoma |
-| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
-| DOID:0060981 | mosaic variegated aneuploidy syndrome 4 |
-| DOID:0060982 | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition |
-| DOID:0070554 | palmoplantar keratoderma and woolly hair |
-| DOID:146 | papilledema |
-| DOID:0060980 | polycystic liver disease 1 |
-| DOID:0060975 | polycystic liver disease 2 |
-| DOID:0060976 | polycystic liver disease 3 with or without kidney cysts |
-| DOID:0060977 | polycystic liver disease 4 with or without kidney cysts |
-| DOID:9373 | postural kyphosis |
-| DOID:0070546 | primary pigmented nodular adrenocortical disease 1 |
-| DOID:0070547 | primary pigmented nodular adrenocortical disease 2 |
-| DOID:0070548 | primary pigmented nodular adrenocortical disease 3 |
-| DOID:0070549 | primary pigmented nodular adrenocortical disease 4 |
-| DOID:0060972 | renal hypomagnesemia 7, with or without dilated cardiomyopathy |
-| DOID:0060983 | sitosterolemia 2 |
-| DOID:0081458 | thyroid gland cribriform morular carcinoma |
-| DOID:0081459 | thyroid gland mixed medullary and follicular cell-derived carcinoma |
-| DOID:0081460 | thyroid gland mucinous carcinoma |
-| DOID:0081461 | thyroid gland spindle epithelial tumor with thymus-like elements |
\ No newline at end of file
+| subject_id | subject_label |
+|:-------------|:--------------------------------------------------------------------|
+| DOID:0070595 | X-linked spermatogenic failure 4 |
+| DOID:0070596 | X-linked spermatogenic failure 5 |
+| DOID:0070597 | X-linked spermatogenic failure 6 |
+| DOID:0070598 | X-linked spermatogenic failure 7 |
+| DOID:0070599 | X-linked spermatogenic failure 8 |
+| DOID:2934 | aleutian mink disease |
+| DOID:0081455 | auto-brewery syndrome |
+| DOID:0060854 | autosomal recessive pseudohypoaldosteronism type 1 |
+| DOID:0081456 | bladder fermentation syndrome |
+| DOID:5154 | borna disease |
+| DOID:0060160 | childhood spinal muscular atrophy |
+| DOID:0111368 | cholesterol-ester transfer protein deficiency |
+| DOID:2536 | chronic inflammatory demyelinating polyneuritis |
+| DOID:4668 | congenital kyphosis |
+| DOID:0070564 | dialysis disequilibrium syndrome |
+| DOID:0050156 | idiopathic pulmonary fibrosis |
+| DOID:0081457 | intrathyroid thymic carcinoma |
+| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
+| DOID:146 | papilledema |
+| DOID:9373 | postural kyphosis |
+| DOID:0070565 | spermatogenic failure 66 |
+| DOID:0070566 | spermatogenic failure 67 |
+| DOID:0070567 | spermatogenic failure 68 |
+| DOID:0070568 | spermatogenic failure 69 |
+| DOID:0070569 | spermatogenic failure 70 |
+| DOID:0070570 | spermatogenic failure 71 |
+| DOID:0070571 | spermatogenic failure 72 |
+| DOID:0070572 | spermatogenic failure 73 |
+| DOID:0070573 | spermatogenic failure 74 |
+| DOID:0070574 | spermatogenic failure 75 |
+| DOID:0070575 | spermatogenic failure 76 |
+| DOID:0070576 | spermatogenic failure 77 |
+| DOID:0070577 | spermatogenic failure 78 |
+| DOID:0070578 | spermatogenic failure 79 |
+| DOID:0070579 | spermatogenic failure 80 |
+| DOID:0070580 | spermatogenic failure 81 |
+| DOID:0070581 | spermatogenic failure 82 |
+| DOID:0070582 | spermatogenic failure 83 |
+| DOID:0070583 | spermatogenic failure 84 |
+| DOID:0070584 | spermatogenic failure 85 |
+| DOID:0070585 | spermatogenic failure 86 |
+| DOID:0070586 | spermatogenic failure 87 |
+| DOID:0070587 | spermatogenic failure 88 |
+| DOID:0070588 | spermatogenic failure 89 |
+| DOID:0070589 | spermatogenic failure 90 |
+| DOID:0070590 | spermatogenic failure 91 |
+| DOID:0070591 | spermatogenic failure 92 |
+| DOID:0070592 | spermatogenic failure 93 |
+| DOID:0070593 | spermatogenic failure 94 |
+| DOID:0070594 | spermatogenic failure 95 |
+| DOID:0081458 | thyroid gland cribriform morular carcinoma |
+| DOID:0081459 | thyroid gland mixed medullary and follicular cell-derived carcinoma |
+| DOID:0081460 | thyroid gland mucinous carcinoma |
\ No newline at end of file
diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md
index 3f21aa21b..8988ea997 100644
--- a/docs/reports/unmapped_omim.md
+++ b/docs/reports/unmapped_omim.md
@@ -2,6 +2,11 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv)
### Unmapped mappable terms _(!excluded, !deprecated)_
-| subject_id | subject_label |
-|:-------------|:--------------------------------------|
-| OMIM:620910 | otofacial neurodevelopmental syndrome |
\ No newline at end of file
+| subject_id | subject_label |
+|:-------------|:--------------------------------------------------------------------------------------------------|
+| OMIM:620926 | immunodeficiency 125 |
+| OMIM:620888 | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 |
+| OMIM:620910 | otofacial neurodevelopmental syndrome |
+| OMIM:620923 | parkinson disease 26, autosomal dominant, susceptibility to |
+| OMIM:620911 | spastic paraplegia 92, autosomal recessive |
+| OMIM:620917 | spermatogenic failure 95 |
\ No newline at end of file
diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md
index 543fe49a2..9239f38fa 100644
--- a/docs/reports/unmapped_ordo.md
+++ b/docs/reports/unmapped_ordo.md
@@ -8,114 +8,42 @@
| Orphanet:409976 | 1-9 / 1 000 000 |
| Orphanet:409977 | 1-9 / 100 000 |
| Orphanet:409978 | 6-9 / 10 000 |
-| Orphanet:664404 | 6q25.1 microdeletion syndrome |
| Orphanet:409979 | <1 / 1 000 000 |
| Orphanet:409980 | >1 / 1000 |
| Orphanet:675597 | Acquired elastotic haemangioma |
| Orphanet:674653 | Actinomyopathy-associated syndromic thrombocytopenia |
-| Orphanet:662934 | Acute megakaryoblastic leukemia in adult |
| Orphanet:675976 | Adenomatoid tumour of the peritoneum |
-| Orphanet:675814 | Adenomatoid tumour of the pleura |
| Orphanet:675359 | Anastomosing haemangioma |
-| Orphanet:673470 | Benign vascular tumor |
-| Orphanet:674968 | Bilateral diffuse uveal melanocytic proliferation disease |
-| Orphanet:673473 | Borderline vascular tumor |
-| Orphanet:664410 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome |
| Orphanet:664416 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation |
-| Orphanet:664401 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation |
-| Orphanet:674965 | Choroidal osteoma |
| Orphanet:662392 | Colonic duplication |
-| Orphanet:676039 | Combined immunodeficiency due to FOXN1 haploinsufficiency |
-| Orphanet:665044 | Common arterial trunk with aortic dominance |
-| Orphanet:665058 | Common arterial trunk with pulmonary dominance and interrupted aortic arch |
-| Orphanet:664923 | Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome |
-| Orphanet:662184 | Congenital muscular dystrophy-cataract-intellectual disability syndrome |
-| Orphanet:672979 | Craniosynostosis-facial dysmorphism-brachydactyly syndrome |
-| Orphanet:672985 | Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome |
-| Orphanet:660017 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome |
-| Orphanet:660012 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation |
-| Orphanet:674947 | Diffuse unilateral subacute neuroretinitis |
-| Orphanet:675837 | Diffused pleural mesothelioma |
| Orphanet:662473 | Duodenal duplication |
| Orphanet:664734 | EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature |
| Orphanet:664726 | EBV-induced lymphoproliferative disease due to CD137 deficiency |
| Orphanet:664711 | EBV-induced lymphoproliferative disease due to PRKCD deficiency |
| Orphanet:664699 | EBV-induced lymphoproliferative disease due to RASGRP1 deficiency |
| Orphanet:664729 | EBV-induced lymphoproliferative disease due to TET2 deficiency |
-| Orphanet:674762 | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency |
| Orphanet:673568 | Eccrine angiomatous hamartoma |
-| Orphanet:662229 | Episodic memory defect leukoencephalopathy |
-| Orphanet:659681 | Erythropoietic porphyria |
-| Orphanet:659609 | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome |
| Orphanet:662388 | Gallbladder duplication |
| Orphanet:662376 | Gastric duplication |
-| Orphanet:662255 | Grisel syndrome |
-| Orphanet:659698 | Hepatic cutaneous porphyria |
| Orphanet:664456 | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility |
| Orphanet:664450 | Inherited cancer-predisposing lymphoproliferative syndrome |
-| Orphanet:662829 | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome |
-| Orphanet:667678 | Intraoral basal cell carcinoma |
-| Orphanet:659702 | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome |
-| Orphanet:674943 | Isolated angioid streaks |
| Orphanet:667589 | Isolated congenital femoral bifurcation |
-| Orphanet:674924 | Isolated retinal racemose hemangioma |
-| Orphanet:675380 | Isolated segmental infantile hemangioma |
| Orphanet:662480 | Jujeno-ileal duplication |
| Orphanet:673538 | Littoral cell hemangioma of the spleen |
-| Orphanet:675833 | Localized pleural mesothelioma |
-| Orphanet:661526 | MBD4-related tumor predisposition syndrome |
-| Orphanet:664377 | MGP-related spondyloepiphyseal dysplasia |
-| Orphanet:662175 | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome |
-| Orphanet:661412 | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency |
-| Orphanet:662179 | Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome |
| Orphanet:675369 | Microvenular haemangioma |
-| Orphanet:662762 | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome |
-| Orphanet:662216 | Mucopolysaccharidosis type 10 |
-| Orphanet:659904 | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome |
-| Orphanet:674953 | Multiple evanescent white dot syndrome |
-| Orphanet:664912 | Neonatal renal venous thrombosis |
-| Orphanet:662198 | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome |
-| Orphanet:662189 | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome |
-| Orphanet:664430 | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome |
-| Orphanet:664787 | Nicolau syndrome |
| Orphanet:674896 | Non-syndromic congenital phagocyte functional defect |
-| Orphanet:659744 | Ocular surface squamous neoplasia |
-| Orphanet:660021 | Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome |
-| Orphanet:659387 | PRC-2 complex-related overgrowth spectrum |
| Orphanet:673543 | Papillary hemangioma |
-| Orphanet:674930 | Perifoveal exudative vascular anomalous complex |
-| Orphanet:676036 | Peritoneal mesothelioma in situ |
-| Orphanet:662169 | Phelan-McDermid syndrome due to 22q13.3 deletion |
-| Orphanet:662172 | Phelan-McDermid syndrome due to SHANK3 mutation |
-| Orphanet:673585 | Pilocytic astrocytoma with histological features of anaplasia |
-| Orphanet:662721 | Placenta accreta spectrum disorder |
-| Orphanet:675841 | Pleural mesothelioma in situ |
| Orphanet:676030 | Primary benign peritoneal tumor |
-| Orphanet:675782 | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN |
-| Orphanet:674499 | Proteoglycan-related bone disorder |
| Orphanet:673556 | Pseudomyogenic hemangioendothelioma |
| Orphanet:662405 | Pyloric duplication |
| Orphanet:659712 | Rare yersiniosis |
| Orphanet:673574 | Reactive angioendotheliomatosis |
-| Orphanet:659634 | Relapsing isolated optic neuritis |
-| Orphanet:659975 | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome |
-| Orphanet:675775 | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome |
-| Orphanet:675767 | Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency |
-| Orphanet:659626 | Single isolated optic neuritis |
| Orphanet:662456 | Small intestine duplication |
-| Orphanet:664372 | Soft and hard cleft palate |
-| Orphanet:675216 | Spinocerebellar ataxia type 27B |
-| Orphanet:674958 | Stellate multiform amelanotic choroidopathy |
| Orphanet:674648 | Syndrome with congenital phagocyte functional defect as a major feature |
-| Orphanet:675628 | TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome |
-| Orphanet:674935 | Torpedo Maculopathy |
| Orphanet:409981 | Unknown_epidemiological_range |
| Orphanet:662786 | Vasa previa |
-| Orphanet:659759 | Verruga peruana |
| Orphanet:676033 | Well-differentiated papillary mesothelial tumour of the peritoneum |
-| Orphanet:675822 | Well-differentiated papillary mesothelial tumour of the pleura |
| Orphanet:409934 | X-linked dominant |
-| Orphanet:676125 | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency |
| Orphanet:409932 | X-linked recessive |
| Orphanet:409938 | Y-linked |
| Orphanet:659707 | Yersinia pseudotuberculosis infection |
diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv
index fd4b87ea5..2aa58b5c6 100644
--- a/src/mappings/doid.sssom.tsv
+++ b/src/mappings/doid.sssom.tsv
@@ -3365,10 +3365,8 @@ DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref ORDO:280558 semapv:Unsp
DOID:0060535 Warsaw breakage syndrome skos:exactMatch OMIM:613398 semapv:UnspecifiedMatching
DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref GARD:3908 semapv:UnspecifiedMatching
DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref MESH:C537475 semapv:UnspecifiedMatching
-DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching
DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref ORDO:2609 semapv:UnspecifiedMatching
DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref UMLS:C1838979 semapv:UnspecifiedMatching
-DOID:0060536 mitochondrial complex I deficiency skos:exactMatch OMIM:252010 semapv:UnspecifiedMatching
DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref GARD:5053 semapv:UnspecifiedMatching
DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ICD10CM:G71.3 semapv:UnspecifiedMatching
DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref MESH:C565375 semapv:UnspecifiedMatching
@@ -4779,10 +4777,6 @@ DOID:0060961 orofaciodigital syndrome XVIII oboInOwl:hasDbXref ORDO:508501 semap
DOID:0060961 orofaciodigital syndrome XVIII skos:exactMatch OMIM:617927 semapv:UnspecifiedMatching
DOID:0060962 orofaciodigital syndrome XX oboInOwl:hasDbXref OMIM:620718 semapv:UnspecifiedMatching
DOID:0060962 orofaciodigital syndrome XX skos:exactMatch OMIM:620718 semapv:UnspecifiedMatching
-DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching
-DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching
-DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching
-DOID:0060963 dystonia, DOPA-responsive skos:exactMatch OMIM:128230 semapv:UnspecifiedMatching
DOID:0060964 Loeys-Dietz syndrome 6 oboInOwl:hasDbXref OMIM:619656 semapv:UnspecifiedMatching
DOID:0060964 Loeys-Dietz syndrome 6 skos:exactMatch OMIM:619656 semapv:UnspecifiedMatching
DOID:0060965 episodic ataxia type 9 oboInOwl:hasDbXref OMIM:618924 semapv:UnspecifiedMatching
@@ -4808,10 +4802,10 @@ DOID:0060974 autosomal recessive Robinow syndrome 2 oboInOwl:hasDbXref OMIM:6185
DOID:0060974 autosomal recessive Robinow syndrome 2 skos:exactMatch OMIM:618529 semapv:UnspecifiedMatching
DOID:0060975 polycystic liver disease 2 oboInOwl:hasDbXref OMIM:617004 semapv:UnspecifiedMatching
DOID:0060975 polycystic liver disease 2 skos:exactMatch OMIM:617004 semapv:UnspecifiedMatching
-DOID:0060976 polycystic liver disease 3 with or without kidney cysts oboInOwl:hasDbXref OMIM:617874 semapv:UnspecifiedMatching
-DOID:0060976 polycystic liver disease 3 with or without kidney cysts skos:exactMatch OMIM:617874 semapv:UnspecifiedMatching
-DOID:0060977 polycystic liver disease 4 with or without kidney cysts oboInOwl:hasDbXref OMIM:617875 semapv:UnspecifiedMatching
-DOID:0060977 polycystic liver disease 4 with or without kidney cysts skos:exactMatch OMIM:617875 semapv:UnspecifiedMatching
+DOID:0060976 polycystic liver disease 3 oboInOwl:hasDbXref OMIM:617874 semapv:UnspecifiedMatching
+DOID:0060976 polycystic liver disease 3 skos:exactMatch OMIM:617874 semapv:UnspecifiedMatching
+DOID:0060977 polycystic liver disease 4 oboInOwl:hasDbXref OMIM:617875 semapv:UnspecifiedMatching
+DOID:0060977 polycystic liver disease 4 skos:exactMatch OMIM:617875 semapv:UnspecifiedMatching
DOID:0060978 Fanconi anemia complementation group W oboInOwl:hasDbXref OMIM:617784 semapv:UnspecifiedMatching
DOID:0060978 Fanconi anemia complementation group W skos:exactMatch OMIM:617784 semapv:UnspecifiedMatching
DOID:0060979 Fanconi anemia complementation group S oboInOwl:hasDbXref OMIM:617883 semapv:UnspecifiedMatching
@@ -6471,6 +6465,80 @@ DOID:0070563 glucose-galactose malabsorption skos:exactMatch MESH:C562602 semapv
DOID:0070563 glucose-galactose malabsorption skos:exactMatch OMIM:606824 semapv:UnspecifiedMatching
DOID:0070563 glucose-galactose malabsorption skos:exactMatch ORDO:35710 semapv:UnspecifiedMatching
DOID:0070563 glucose-galactose malabsorption skos:exactMatch UMLS:C0268186 semapv:UnspecifiedMatching
+DOID:0070564 dialysis disequilibrium syndrome oboInOwl:hasDbXref NCI:C114781 semapv:UnspecifiedMatching
+DOID:0070564 dialysis disequilibrium syndrome oboInOwl:hasDbXref UMLS:C0403559 semapv:UnspecifiedMatching
+DOID:0070564 dialysis disequilibrium syndrome skos:exactMatch NCI:C114781 semapv:UnspecifiedMatching
+DOID:0070564 dialysis disequilibrium syndrome skos:exactMatch UMLS:C0403559 semapv:UnspecifiedMatching
+DOID:0070565 spermatogenic failure 66 oboInOwl:hasDbXref OMIM:619799 semapv:UnspecifiedMatching
+DOID:0070565 spermatogenic failure 66 skos:exactMatch OMIM:619799 semapv:UnspecifiedMatching
+DOID:0070566 spermatogenic failure 67 oboInOwl:hasDbXref OMIM:619803 semapv:UnspecifiedMatching
+DOID:0070566 spermatogenic failure 67 skos:exactMatch OMIM:619803 semapv:UnspecifiedMatching
+DOID:0070567 spermatogenic failure 68 oboInOwl:hasDbXref OMIM:619805 semapv:UnspecifiedMatching
+DOID:0070567 spermatogenic failure 68 skos:exactMatch OMIM:619805 semapv:UnspecifiedMatching
+DOID:0070568 spermatogenic failure 69 oboInOwl:hasDbXref OMIM:619826 semapv:UnspecifiedMatching
+DOID:0070568 spermatogenic failure 69 skos:exactMatch OMIM:619826 semapv:UnspecifiedMatching
+DOID:0070569 spermatogenic failure 70 oboInOwl:hasDbXref OMIM:619828 semapv:UnspecifiedMatching
+DOID:0070569 spermatogenic failure 70 skos:exactMatch OMIM:619828 semapv:UnspecifiedMatching
+DOID:0070570 spermatogenic failure 71 oboInOwl:hasDbXref OMIM:619831 semapv:UnspecifiedMatching
+DOID:0070570 spermatogenic failure 71 skos:exactMatch OMIM:619831 semapv:UnspecifiedMatching
+DOID:0070571 spermatogenic failure 72 oboInOwl:hasDbXref OMIM:619867 semapv:UnspecifiedMatching
+DOID:0070571 spermatogenic failure 72 skos:exactMatch OMIM:619867 semapv:UnspecifiedMatching
+DOID:0070572 spermatogenic failure 73 oboInOwl:hasDbXref OMIM:619878 semapv:UnspecifiedMatching
+DOID:0070572 spermatogenic failure 73 skos:exactMatch OMIM:619878 semapv:UnspecifiedMatching
+DOID:0070573 spermatogenic failure 74 oboInOwl:hasDbXref OMIM:619937 semapv:UnspecifiedMatching
+DOID:0070573 spermatogenic failure 74 skos:exactMatch OMIM:619937 semapv:UnspecifiedMatching
+DOID:0070574 spermatogenic failure 75 oboInOwl:hasDbXref OMIM:619949 semapv:UnspecifiedMatching
+DOID:0070574 spermatogenic failure 75 skos:exactMatch OMIM:619949 semapv:UnspecifiedMatching
+DOID:0070575 spermatogenic failure 76 oboInOwl:hasDbXref OMIM:620084 semapv:UnspecifiedMatching
+DOID:0070575 spermatogenic failure 76 skos:exactMatch OMIM:620084 semapv:UnspecifiedMatching
+DOID:0070576 spermatogenic failure 77 oboInOwl:hasDbXref OMIM:620103 semapv:UnspecifiedMatching
+DOID:0070576 spermatogenic failure 77 skos:exactMatch OMIM:620103 semapv:UnspecifiedMatching
+DOID:0070577 spermatogenic failure 78 oboInOwl:hasDbXref OMIM:620170 semapv:UnspecifiedMatching
+DOID:0070577 spermatogenic failure 78 skos:exactMatch OMIM:620170 semapv:UnspecifiedMatching
+DOID:0070578 spermatogenic failure 79 oboInOwl:hasDbXref OMIM:620196 semapv:UnspecifiedMatching
+DOID:0070578 spermatogenic failure 79 skos:exactMatch OMIM:620196 semapv:UnspecifiedMatching
+DOID:0070579 spermatogenic failure 80 oboInOwl:hasDbXref OMIM:620222 semapv:UnspecifiedMatching
+DOID:0070579 spermatogenic failure 80 skos:exactMatch OMIM:620222 semapv:UnspecifiedMatching
+DOID:0070580 spermatogenic failure 81 oboInOwl:hasDbXref OMIM:620277 semapv:UnspecifiedMatching
+DOID:0070580 spermatogenic failure 81 skos:exactMatch OMIM:620277 semapv:UnspecifiedMatching
+DOID:0070581 spermatogenic failure 82 oboInOwl:hasDbXref OMIM:620353 semapv:UnspecifiedMatching
+DOID:0070581 spermatogenic failure 82 skos:exactMatch OMIM:620353 semapv:UnspecifiedMatching
+DOID:0070582 spermatogenic failure 83 oboInOwl:hasDbXref OMIM:620354 semapv:UnspecifiedMatching
+DOID:0070582 spermatogenic failure 83 skos:exactMatch OMIM:620354 semapv:UnspecifiedMatching
+DOID:0070583 spermatogenic failure 84 oboInOwl:hasDbXref OMIM:620409 semapv:UnspecifiedMatching
+DOID:0070583 spermatogenic failure 84 skos:exactMatch OMIM:620409 semapv:UnspecifiedMatching
+DOID:0070584 spermatogenic failure 85 oboInOwl:hasDbXref OMIM:620490 semapv:UnspecifiedMatching
+DOID:0070584 spermatogenic failure 85 skos:exactMatch OMIM:620490 semapv:UnspecifiedMatching
+DOID:0070585 spermatogenic failure 86 oboInOwl:hasDbXref OMIM:620499 semapv:UnspecifiedMatching
+DOID:0070585 spermatogenic failure 86 skos:exactMatch OMIM:620499 semapv:UnspecifiedMatching
+DOID:0070586 spermatogenic failure 87 oboInOwl:hasDbXref OMIM:620500 semapv:UnspecifiedMatching
+DOID:0070586 spermatogenic failure 87 skos:exactMatch OMIM:620500 semapv:UnspecifiedMatching
+DOID:0070587 spermatogenic failure 88 oboInOwl:hasDbXref OMIM:620547 semapv:UnspecifiedMatching
+DOID:0070587 spermatogenic failure 88 skos:exactMatch OMIM:620547 semapv:UnspecifiedMatching
+DOID:0070588 spermatogenic failure 89 oboInOwl:hasDbXref OMIM:620705 semapv:UnspecifiedMatching
+DOID:0070588 spermatogenic failure 89 skos:exactMatch OMIM:620705 semapv:UnspecifiedMatching
+DOID:0070589 spermatogenic failure 90 oboInOwl:hasDbXref OMIM:620744 semapv:UnspecifiedMatching
+DOID:0070589 spermatogenic failure 90 skos:exactMatch OMIM:620744 semapv:UnspecifiedMatching
+DOID:0070590 spermatogenic failure 91 oboInOwl:hasDbXref OMIM:620838 semapv:UnspecifiedMatching
+DOID:0070590 spermatogenic failure 91 skos:exactMatch OMIM:620838 semapv:UnspecifiedMatching
+DOID:0070591 spermatogenic failure 92 oboInOwl:hasDbXref OMIM:620848 semapv:UnspecifiedMatching
+DOID:0070591 spermatogenic failure 92 skos:exactMatch OMIM:620848 semapv:UnspecifiedMatching
+DOID:0070592 spermatogenic failure 93 oboInOwl:hasDbXref OMIM:620849 semapv:UnspecifiedMatching
+DOID:0070592 spermatogenic failure 93 skos:exactMatch OMIM:620849 semapv:UnspecifiedMatching
+DOID:0070593 spermatogenic failure 94 oboInOwl:hasDbXref OMIM:620850 semapv:UnspecifiedMatching
+DOID:0070593 spermatogenic failure 94 skos:exactMatch OMIM:620850 semapv:UnspecifiedMatching
+DOID:0070594 spermatogenic failure 95 oboInOwl:hasDbXref OMIM:620917 semapv:UnspecifiedMatching
+DOID:0070594 spermatogenic failure 95 skos:exactMatch OMIM:620917 semapv:UnspecifiedMatching
+DOID:0070595 X-linked spermatogenic failure 4 oboInOwl:hasDbXref OMIM:301077 semapv:UnspecifiedMatching
+DOID:0070595 X-linked spermatogenic failure 4 skos:exactMatch OMIM:301077 semapv:UnspecifiedMatching
+DOID:0070596 X-linked spermatogenic failure 5 oboInOwl:hasDbXref OMIM:301099 semapv:UnspecifiedMatching
+DOID:0070596 X-linked spermatogenic failure 5 skos:exactMatch OMIM:301099 semapv:UnspecifiedMatching
+DOID:0070597 X-linked spermatogenic failure 6 oboInOwl:hasDbXref OMIM:301101 semapv:UnspecifiedMatching
+DOID:0070597 X-linked spermatogenic failure 6 skos:exactMatch OMIM:301101 semapv:UnspecifiedMatching
+DOID:0070598 X-linked spermatogenic failure 7 oboInOwl:hasDbXref OMIM:301106 semapv:UnspecifiedMatching
+DOID:0070598 X-linked spermatogenic failure 7 skos:exactMatch OMIM:301106 semapv:UnspecifiedMatching
+DOID:0070599 X-linked spermatogenic failure 8 oboInOwl:hasDbXref OMIM:301119 semapv:UnspecifiedMatching
+DOID:0070599 X-linked spermatogenic failure 8 skos:exactMatch OMIM:301119 semapv:UnspecifiedMatching
DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching
DOID:0080001 bone disease oboInOwl:hasDbXref MESH:D001847 semapv:UnspecifiedMatching
DOID:0080001 bone disease oboInOwl:hasDbXref UMLS:C0005940 semapv:UnspecifiedMatching
@@ -8950,8 +9018,7 @@ DOID:0081162 dilated cardiomyopathy 2F oboInOwl:hasDbXref OMIM:619747 semapv:Uns
DOID:0081162 dilated cardiomyopathy 2F skos:exactMatch OMIM:619747 semapv:UnspecifiedMatching
DOID:0081163 dilated cardiomyopathy 2G oboInOwl:hasDbXref OMIM:619897 semapv:UnspecifiedMatching
DOID:0081163 dilated cardiomyopathy 2G skos:exactMatch OMIM:619897 semapv:UnspecifiedMatching
-DOID:0081164 dilated cardiomyopathy 3B oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching
-DOID:0081164 dilated cardiomyopathy 3B skos:exactMatch OMIM:302045 semapv:UnspecifiedMatching
+DOID:0081164 obsolete dilated cardiomyopathy 3B oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching
DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref GARD:2712 semapv:UnspecifiedMatching
DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref OMIM:605911 semapv:UnspecifiedMatching
DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref ORDO:35701 semapv:UnspecifiedMatching
@@ -9737,10 +9804,10 @@ DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:Unspeci
DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref OMIM:612406 semapv:UnspecifiedMatching
DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ORDO:370103 semapv:UnspecifiedMatching
DOID:0090042 torsion dystonia 17 skos:exactMatch OMIM:612406 semapv:UnspecifiedMatching
-DOID:0090043 dystonia 5 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching
-DOID:0090043 dystonia 5 oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching
-DOID:0090043 dystonia 5 oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching
-DOID:0090043 dystonia 5 skos:exactMatch OMIM:128230 semapv:UnspecifiedMatching
+DOID:0090043 dopa-responsive dystonia oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching
+DOID:0090043 dopa-responsive dystonia oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching
+DOID:0090043 dopa-responsive dystonia oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching
+DOID:0090043 dopa-responsive dystonia skos:exactMatch OMIM:128230 semapv:UnspecifiedMatching
DOID:0090044 dystonia 9 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching
DOID:0090044 dystonia 9 oboInOwl:hasDbXref OMIM:601042 semapv:UnspecifiedMatching
DOID:0090044 dystonia 9 oboInOwl:hasDbXref ORDO:53583 semapv:UnspecifiedMatching
@@ -12009,9 +12076,6 @@ DOID:0110576 autosomal dominant nonsyndromic deafness 50 skos:exactMatch OMIM:61
DOID:0110577 autosomal dominant nonsyndromic deafness 51 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching
DOID:0110577 autosomal dominant nonsyndromic deafness 51 oboInOwl:hasDbXref OMIM:613558 semapv:UnspecifiedMatching
DOID:0110577 autosomal dominant nonsyndromic deafness 51 skos:exactMatch OMIM:613558 semapv:UnspecifiedMatching
-DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching
-DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref OMIM:607683 semapv:UnspecifiedMatching
-DOID:0110578 autosomal dominant nonsyndromic deafness 52 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching
DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref GARD:9934 semapv:UnspecifiedMatching
DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching
DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref OMIM:609965 semapv:UnspecifiedMatching
@@ -12911,10 +12975,8 @@ DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref IC
DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD9CM:753.14 semapv:UnspecifiedMatching
DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MESH:D017044 semapv:UnspecifiedMatching
DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref NCI:C84579 semapv:UnspecifiedMatching
-DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching
DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ORDO:731 semapv:UnspecifiedMatching
DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085548 semapv:UnspecifiedMatching
-DOID:0110861 autosomal recessive polycystic kidney disease skos:exactMatch OMIM:263200 semapv:UnspecifiedMatching
DOID:0110862 congenital stationary night blindness autosomal dominant 1 oboInOwl:hasDbXref OMIM:610445 semapv:UnspecifiedMatching
DOID:0110862 congenital stationary night blindness autosomal dominant 1 skos:exactMatch OMIM:610445 semapv:UnspecifiedMatching
DOID:0110863 congenital stationary night blindness autosomal dominant 2 oboInOwl:hasDbXref OMIM:163500 semapv:UnspecifiedMatching
@@ -31590,7 +31652,6 @@ DOID:4871 cutaneous adenocystic carcinoma oboInOwl:hasDbXref UMLS:C0346017 semap
DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5666 semapv:UnspecifiedMatching
DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1334439 semapv:UnspecifiedMatching
DOID:4873 anterior horn cell disease oboInOwl:hasDbXref ICD9CM:335 semapv:UnspecifiedMatching
-DOID:4873 anterior horn cell disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching
DOID:4873 anterior horn cell disease oboInOwl:hasDbXref UMLS:C0154681 semapv:UnspecifiedMatching
DOID:4875 trachea adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C6051 semapv:UnspecifiedMatching
DOID:4875 trachea adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C0345945 semapv:UnspecifiedMatching
@@ -37034,7 +37095,7 @@ DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref NCI:C85171 sema
DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref OMIM:260470 semapv:UnspecifiedMatching
DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref UMLS:C0038522 semapv:UnspecifiedMatching
DOID:8970 subacute sclerosing panencephalitis skos:exactMatch OMIM:260470 semapv:UnspecifiedMatching
-DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref GARD:7419 semapv:UnspecifiedMatching
+DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref GARD:10413 semapv:UnspecifiedMatching
DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10CM:Q61.3 semapv:UnspecifiedMatching
DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD9CM:753.12 semapv:UnspecifiedMatching
DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref MESH:D007690 semapv:UnspecifiedMatching
diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv
index 26228a006..4db6d7ec9 100644
--- a/src/mappings/gard.sssom.tsv
+++ b/src/mappings/gard.sssom.tsv
@@ -9,7 +9,7 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/5daf97f4-68b9-4663-803f-c7685abe5307
+# mapping_set_id: https://w3id.org/sssom/mappings/96a526a9-fed4-44fb-9815-823aa5c50b43
subject_id subject_label predicate_id object_id mapping_justification
obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching
obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching
diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv
index 5c00be019..518642548 100644
--- a/src/mappings/icd10cm.sssom.tsv
+++ b/src/mappings/icd10cm.sssom.tsv
@@ -6,6 +6,6 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/140043b1-6810-4175-9c5e-6d2f4bfd094f
+# mapping_set_id: https://w3id.org/sssom/mappings/029618b3-0fc6-42dd-8fde-476d62becd23
diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv
index 55a8c3534..8b4ca7af2 100644
--- a/src/mappings/icd10who.sssom.tsv
+++ b/src/mappings/icd10who.sssom.tsv
@@ -6,6 +6,6 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/c9090ba9-94d0-4e3f-b8f9-fa782e299f30
+# mapping_set_id: https://w3id.org/sssom/mappings/d9af3432-3654-4228-b762-7d9f9fbda536
diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv
index 325a6da25..5b5423010 100644
--- a/src/mappings/icd11foundation.sssom.tsv
+++ b/src/mappings/icd11foundation.sssom.tsv
@@ -6,6 +6,6 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/16689baf-846f-42a5-a279-d638db3ae39c
+# mapping_set_id: https://w3id.org/sssom/mappings/0599b5ca-b47c-4b88-a393-f64cadfc9a16
diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv
index 7022b04a3..c6834ed39 100644
--- a/src/mappings/mondo-nando.sssom.tsv
+++ b/src/mappings/mondo-nando.sssom.tsv
@@ -15,7 +15,7 @@
# mapping_provider: MONDO:NANDO
# mapping_set_description: This mapping set is manually curated by the NANDO team at
# nanbyodata.jp.
-# mapping_set_id: https://w3id.org/sssom/mappings/b1e7cc0f-10b9-4aa1-a135-203332856a6b
+# mapping_set_id: https://w3id.org/sssom/mappings/7198bf2f-feb0-438e-81e0-9100722b08c1
# mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp
subject_id subject_label predicate_id object_id object_label mapping_justification
MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion
diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv
index 0a6727896..0d85010c8 100644
--- a/src/mappings/ncit.sssom.tsv
+++ b/src/mappings/ncit.sssom.tsv
@@ -9,7 +9,7 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/6af032cd-2805-4a32-b1c0-174ed6a2fc45
+# mapping_set_id: https://w3id.org/sssom/mappings/314636b0-e79b-43f8-bab0-cebd81778b0b
subject_id subject_label predicate_id object_id mapping_justification
NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching
NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching
diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv
index 5ef39ccf0..f8a049a5c 100644
--- a/src/mappings/omim.sssom.tsv
+++ b/src/mappings/omim.sssom.tsv
@@ -3755,7 +3755,7 @@ MONDO:0010853 skos:exactMatch OMIM:600263 helicobacter pylori infection, suscep
MONDO:0010854 skos:exactMatch OMIM:600268 oculoectodermal syndrome semapv:UnspecifiedMatching
MONDO:0010855 skos:exactMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:UnspecifiedMatching
MONDO:0010856 skos:exactMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:UnspecifiedMatching
-MONDO:0010857 skos:exactMatch OMIM:600274 frontotemporal dementia semapv:UnspecifiedMatching
+MONDO:0010857 skos:exactMatch OMIM:600274 frontotemporal dementia 1 semapv:UnspecifiedMatching
MONDO:0010858 skos:exactMatch OMIM:600302 fryns macrocephaly semapv:UnspecifiedMatching
MONDO:0010859 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching
MONDO:0010860 skos:exactMatch OMIM:600316 deafness, autosomal recessive 3 semapv:UnspecifiedMatching
@@ -4682,7 +4682,7 @@ MONDO:0011838 skos:exactMatch OMIM:607475 bothnia retinal dystrophy semapv:Unsp
MONDO:0011839 skos:exactMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:UnspecifiedMatching
MONDO:0011840 skos:exactMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:UnspecifiedMatching
MONDO:0011841 skos:exactMatch OMIM:607483 basal ganglia disease, biotin-thiamine responsive semapv:UnspecifiedMatching
-MONDO:0011842 skos:exactMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:UnspecifiedMatching
+MONDO:0011842 skos:exactMatch OMIM:607485 frontotemporal dementia 2 semapv:UnspecifiedMatching
MONDO:0011843 skos:exactMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:UnspecifiedMatching
MONDO:0011844 skos:exactMatch OMIM:607488 dystonia 15, myoclonic semapv:UnspecifiedMatching
MONDO:0011845 skos:exactMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:UnspecifiedMatching
@@ -4984,7 +4984,7 @@ MONDO:0012159 skos:exactMatch OMIM:608935 lung cancer susceptibility 1 semapv:U
MONDO:0012160 skos:exactMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:UnspecifiedMatching
MONDO:0012161 skos:exactMatch OMIM:608957 immunodeficiency 116 semapv:UnspecifiedMatching
MONDO:0012162 skos:exactMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:UnspecifiedMatching
-MONDO:0012163 skos:exactMatch OMIM:608971 immunodeficiency 104 semapv:UnspecifiedMatching
+MONDO:0012163 skos:exactMatch OMIM:608971 immunodeficiency 104, severe combined semapv:UnspecifiedMatching
MONDO:0012164 skos:exactMatch OMIM:608978 meacham syndrome semapv:UnspecifiedMatching
MONDO:0012165 skos:exactMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:UnspecifiedMatching
MONDO:0012166 skos:exactMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:UnspecifiedMatching
@@ -5455,7 +5455,7 @@ MONDO:0012644 skos:exactMatch OMIM:611263 short-rib thoracic dysplasia 2 with o
MONDO:0012645 skos:exactMatch OMIM:611274 glaucoma 1, open angle, n semapv:UnspecifiedMatching
MONDO:0012646 skos:exactMatch OMIM:611276 glaucoma 1, open angle, h semapv:UnspecifiedMatching
MONDO:0012648 skos:exactMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:UnspecifiedMatching
-MONDO:0012650 skos:exactMatch OMIM:611291 immunodeficiency 124 semapv:UnspecifiedMatching
+MONDO:0012650 skos:exactMatch OMIM:611291 immunodeficiency 124, severe combined semapv:UnspecifiedMatching
MONDO:0012651 skos:exactMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:UnspecifiedMatching
MONDO:0012652 skos:exactMatch OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching
MONDO:0012653 skos:exactMatch OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching
@@ -7042,7 +7042,7 @@ MONDO:0014275 skos:exactMatch OMIM:615605 fanconi renotubular syndrome 3 semapv
MONDO:0014276 skos:exactMatch OMIM:615607 immunodeficiency 17 semapv:UnspecifiedMatching
MONDO:0014277 skos:exactMatch OMIM:615612 developmental dysplasia of the hip 2 semapv:UnspecifiedMatching
MONDO:0014278 skos:exactMatch OMIM:615615 immunodeficiency 18 semapv:UnspecifiedMatching
-MONDO:0014280 skos:exactMatch OMIM:615617 immunodeficiency 19 semapv:UnspecifiedMatching
+MONDO:0014280 skos:exactMatch OMIM:615617 immunodeficiency 19, severe combined semapv:UnspecifiedMatching
MONDO:0014281 skos:exactMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:UnspecifiedMatching
MONDO:0014282 skos:exactMatch OMIM:615625 spastic paraplegia 72a, autosomal dominant semapv:UnspecifiedMatching
MONDO:0014283 skos:exactMatch OMIM:615629 deafness, autosomal dominant 56 semapv:UnspecifiedMatching
@@ -7241,7 +7241,7 @@ MONDO:0014477 skos:exactMatch OMIM:616056 developmental and epileptic encephalo
MONDO:0014478 skos:exactMatch OMIM:616059 mirror movements 3 semapv:UnspecifiedMatching
MONDO:0014479 skos:exactMatch OMIM:616063 porokeratosis 8, disseminated superficial actinic type semapv:UnspecifiedMatching
MONDO:0014480 skos:exactMatch OMIM:616067 46,xy sex reversal 9 semapv:UnspecifiedMatching
-MONDO:0014481 skos:exactMatch OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 semapv:UnspecifiedMatching
+MONDO:0014481 skos:exactMatch OMIM:616069 neonatal nephrocutaneous inflammatory syndrome semapv:UnspecifiedMatching
MONDO:0014482 skos:exactMatch OMIM:616078 intellectual developmental disorder, autosomal dominant 29 semapv:UnspecifiedMatching
MONDO:0014483 skos:exactMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:UnspecifiedMatching
MONDO:0014484 skos:exactMatch OMIM:616080 microcephaly 12, primary, autosomal recessive semapv:UnspecifiedMatching
@@ -7724,7 +7724,7 @@ MONDO:0014977 skos:exactMatch OMIM:617232 muscular dystrophy, limb-girdle, auto
MONDO:0014978 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching
MONDO:0014979 skos:exactMatch OMIM:617235 myoclonus, intractable, neonatal semapv:UnspecifiedMatching
MONDO:0014980 skos:exactMatch omim.ps:617236 Cone-rod dystrophy and hearing loss semapv:UnspecifiedMatching
-MONDO:0014981 skos:exactMatch OMIM:617237 immunodeficiency 49 semapv:UnspecifiedMatching
+MONDO:0014981 skos:exactMatch OMIM:617237 immunodeficiency 49, severe combined semapv:UnspecifiedMatching
MONDO:0014982 skos:exactMatch OMIM:617238 myopia 25, autosomal dominant semapv:UnspecifiedMatching
MONDO:0014983 skos:exactMatch OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic semapv:UnspecifiedMatching
MONDO:0014984 skos:exactMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:UnspecifiedMatching
@@ -7891,7 +7891,7 @@ MONDO:0017359 skos:exactMatch omim.ps:250950 3-Methylglutaconic aciduria semapv
MONDO:0017380 skos:exactMatch OMIM:174900 juvenile polyposis syndrome semapv:UnspecifiedMatching
MONDO:0017398 skos:exactMatch omim.ps:257920 3MC syndrome semapv:UnspecifiedMatching
MONDO:0017400 skos:exactMatch OMIM:615710 mitchell-riley syndrome semapv:UnspecifiedMatching
-MONDO:0017411 skos:exactMatch omim.ps:614328 Neonatal inflammatory skin and bowel disease semapv:UnspecifiedMatching
+MONDO:0017411 skos:exactMatch omim.ps:614328 semapv:UnspecifiedMatching
MONDO:0017417 skos:exactMatch omim.ps:208540 Renal-hepatic-pancreatic dysplasia semapv:UnspecifiedMatching
MONDO:0017425 skos:exactMatch omim.ps:174400 Polydactyly, preaxial semapv:UnspecifiedMatching
MONDO:0017436 skos:exactMatch omim.ps:253310 Lethal congenital contracture syndrome semapv:UnspecifiedMatching
@@ -8994,7 +8994,7 @@ MONDO:0032707 skos:exactMatch OMIM:618371 turnpenny-fry syndrome semapv:Unspeci
MONDO:0032710 skos:exactMatch OMIM:618374 developmental and epileptic encephalopathy 72 semapv:UnspecifiedMatching
MONDO:0032712 skos:exactMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:UnspecifiedMatching
MONDO:0032714 skos:exactMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:UnspecifiedMatching
-MONDO:0032715 skos:exactMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:UnspecifiedMatching
+MONDO:0032715 skos:exactMatch OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities semapv:UnspecifiedMatching
MONDO:0032716 skos:exactMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:UnspecifiedMatching
MONDO:0032717 skos:exactMatch OMIM:618386 amelogenesis imperfecta, type 3c semapv:UnspecifiedMatching
MONDO:0032721 skos:exactMatch OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu type semapv:UnspecifiedMatching
@@ -9827,7 +9827,7 @@ MONDO:0800045 skos:exactMatch OMIM:616744 autoinflammatory syndrome, familial,
MONDO:0800046 skos:exactMatch OMIM:609698 thyroid hormone metabolism, abnormal, 1 semapv:UnspecifiedMatching
MONDO:0800047 skos:exactMatch OMIM:613112 macrothrombocytopenia, isolated, 1, autosomal dominant semapv:UnspecifiedMatching
MONDO:0800103 skos:exactMatch OMIM:216360 coach syndrome 1 semapv:UnspecifiedMatching
-MONDO:0800104 skos:exactMatch OMIM:619924 immunodeficiency 105 semapv:UnspecifiedMatching
+MONDO:0800104 skos:exactMatch OMIM:619924 immunodeficiency 105, severe combined semapv:UnspecifiedMatching
MONDO:0800129 skos:exactMatch OMIM:301081 autoinflammatory disease, systemic, X-linked semapv:UnspecifiedMatching
MONDO:0800130 skos:exactMatch OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency semapv:UnspecifiedMatching
MONDO:0800131 skos:exactMatch OMIM:619752 hyper-ige syndrome 4a, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching
@@ -19878,8 +19878,8 @@ OMIM:187380 TNC skos:exactMatch hgnc.symbol:5318 semapv:UnspecifiedMatching
OMIM:187380 TNC skos:exactMatch hgnc.symbol:TNC semapv:UnspecifiedMatching
OMIM:187380 TNC skos:exactMatch ncbigene:3371 semapv:UnspecifiedMatching
OMIM:187390 tendons, extensor, of fingers, anomalous insertion of skos:exactMatch MONDO:0008540 semapv:UnspecifiedMatching
-OMIM:187395 TDGF1 skos:exactMatch hgnc.symbol:CRIPTO semapv:UnspecifiedMatching
-OMIM:187395 TDGF1 skos:exactMatch ncbigene:6997 semapv:UnspecifiedMatching
+OMIM:187395 CRIPTO skos:exactMatch hgnc.symbol:CRIPTO semapv:UnspecifiedMatching
+OMIM:187395 CRIPTO skos:exactMatch ncbigene:6997 semapv:UnspecifiedMatching
OMIM:187400 testicular torsion skos:exactMatch MONDO:0008541 semapv:UnspecifiedMatching
OMIM:187410 DNTT skos:exactMatch hgnc.symbol:2983 semapv:UnspecifiedMatching
OMIM:187410 DNTT skos:exactMatch hgnc.symbol:DNTT semapv:UnspecifiedMatching
@@ -27562,13 +27562,13 @@ OMIM:600272 COIL skos:exactMatch hgnc.symbol:2184 semapv:UnspecifiedMatching
OMIM:600272 COIL skos:exactMatch hgnc.symbol:COIL semapv:UnspecifiedMatching
OMIM:600272 COIL skos:exactMatch ncbigene:8161 semapv:UnspecifiedMatching
OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis skos:exactMatch MONDO:0010856 semapv:UnspecifiedMatching
-OMIM:600274 frontotemporal dementia skos:exactMatch MONDO:0010857 semapv:UnspecifiedMatching
-OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching
-OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching
-OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching
-OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching
-OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching
-OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching
+OMIM:600274 frontotemporal dementia 1 skos:exactMatch MONDO:0010857 semapv:UnspecifiedMatching
+OMIM:600274 frontotemporal dementia 1 skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching
+OMIM:600274 frontotemporal dementia 1 skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching
+OMIM:600274 frontotemporal dementia 1 skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching
+OMIM:600274 frontotemporal dementia 1 skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching
+OMIM:600274 frontotemporal dementia 1 skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching
+OMIM:600274 frontotemporal dementia 1 skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching
OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:7882 semapv:UnspecifiedMatching
OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:NOTCH2 semapv:UnspecifiedMatching
OMIM:600275 NOTCH2 skos:exactMatch ncbigene:4853 semapv:UnspecifiedMatching
@@ -45579,12 +45579,12 @@ OMIM:606640 amyotrophic lateral sclerosis 3 skos:exactMatch MONDO:0011691 semap
OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:17813 semapv:UnspecifiedMatching
OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:IGSF8 semapv:UnspecifiedMatching
OMIM:606644 IGSF8 skos:exactMatch ncbigene:93185 semapv:UnspecifiedMatching
-OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:16924 semapv:UnspecifiedMatching
-OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching
-OMIM:606645 CENTD1 skos:exactMatch ncbigene:116984 semapv:UnspecifiedMatching
-OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:16925 semapv:UnspecifiedMatching
-OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:ARAP1 semapv:UnspecifiedMatching
-OMIM:606646 CENTD2 skos:exactMatch ncbigene:116985 semapv:UnspecifiedMatching
+OMIM:606645 ARAP2 skos:exactMatch hgnc.symbol:16924 semapv:UnspecifiedMatching
+OMIM:606645 ARAP2 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching
+OMIM:606645 ARAP2 skos:exactMatch ncbigene:116984 semapv:UnspecifiedMatching
+OMIM:606646 ARAP1 skos:exactMatch hgnc.symbol:16925 semapv:UnspecifiedMatching
+OMIM:606646 ARAP1 skos:exactMatch hgnc.symbol:ARAP1 semapv:UnspecifiedMatching
+OMIM:606646 ARAP1 skos:exactMatch ncbigene:116985 semapv:UnspecifiedMatching
OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:24097 semapv:UnspecifiedMatching
OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:ARAP3 semapv:UnspecifiedMatching
OMIM:606647 CENTD3 skos:exactMatch ncbigene:64411 semapv:UnspecifiedMatching
@@ -47965,7 +47965,7 @@ OMIM:607484 PARD6A skos:exactMatch UMLS:C1335190 semapv:UnspecifiedMatching
OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:15943 semapv:UnspecifiedMatching
OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:PARD6A semapv:UnspecifiedMatching
OMIM:607484 PARD6A skos:exactMatch ncbigene:50855 semapv:UnspecifiedMatching
-OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related skos:exactMatch MONDO:0011842 semapv:UnspecifiedMatching
+OMIM:607485 frontotemporal dementia 2 skos:exactMatch MONDO:0011842 semapv:UnspecifiedMatching
OMIM:607487 cardiomyopathy, familial hypertrophic, 25 skos:exactMatch MONDO:0011843 semapv:UnspecifiedMatching
OMIM:607488 dystonia 15, myoclonic skos:exactMatch MONDO:0011844 semapv:UnspecifiedMatching
OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:15982 semapv:UnspecifiedMatching
@@ -49765,9 +49765,9 @@ OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:15580 semapv:UnspecifiedMatchin
OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:PDE4DIP semapv:UnspecifiedMatching
OMIM:608117 PDE4DIP skos:exactMatch ncbigene:9659 semapv:UnspecifiedMatching
OMIM:608118 zinc deficiency, transient neonatal skos:exactMatch MONDO:0011973 semapv:UnspecifiedMatching
-OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:20164 semapv:UnspecifiedMatching
-OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:HOMEZ semapv:UnspecifiedMatching
-OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch ncbigene:57594 semapv:UnspecifiedMatching
+OMIM:608119 HOMEZ skos:exactMatch hgnc.symbol:20164 semapv:UnspecifiedMatching
+OMIM:608119 HOMEZ skos:exactMatch hgnc.symbol:HOMEZ semapv:UnspecifiedMatching
+OMIM:608119 HOMEZ skos:exactMatch ncbigene:57594 semapv:UnspecifiedMatching
OMIM:608120 PARVA skos:exactMatch hgnc.symbol:14652 semapv:UnspecifiedMatching
OMIM:608120 PARVA skos:exactMatch hgnc.symbol:PARVA semapv:UnspecifiedMatching
OMIM:608120 PARVA skos:exactMatch ncbigene:55742 semapv:UnspecifiedMatching
@@ -50123,9 +50123,9 @@ OMIM:608237 GAL3ST2 skos:exactMatch ncbigene:64090 semapv:UnspecifiedMatching
OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:30227 semapv:UnspecifiedMatching
OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:SPPL2A semapv:UnspecifiedMatching
OMIM:608238 SPPL2A skos:exactMatch ncbigene:84888 semapv:UnspecifiedMatching
-OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:30627 semapv:UnspecifiedMatching
-OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:SPPL2B semapv:UnspecifiedMatching
-OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch ncbigene:56928 semapv:UnspecifiedMatching
+OMIM:608239 SPPL2B skos:exactMatch hgnc.symbol:30627 semapv:UnspecifiedMatching
+OMIM:608239 SPPL2B skos:exactMatch hgnc.symbol:SPPL2B semapv:UnspecifiedMatching
+OMIM:608239 SPPL2B skos:exactMatch ncbigene:56928 semapv:UnspecifiedMatching
OMIM:608240 SPPL3 skos:exactMatch UMLS:C1842354 semapv:UnspecifiedMatching
OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:30424 semapv:UnspecifiedMatching
OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:SPPL3 semapv:UnspecifiedMatching
@@ -50490,6 +50490,8 @@ OMIM:608367 myopia 17, autosomal dominant skos:exactMatch MONDO:0012021 semapv:
OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:21700 semapv:UnspecifiedMatching
OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:RAD9B semapv:UnspecifiedMatching
OMIM:608368 RAD9B skos:exactMatch ncbigene:144715 semapv:UnspecifiedMatching
+OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:23242 semapv:UnspecifiedMatching
+OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:GALNT13 semapv:UnspecifiedMatching
OMIM:608369 GALNT13 skos:exactMatch ncbigene:114805 semapv:UnspecifiedMatching
OMIM:608370 SCD5 skos:exactMatch UMLS:C1822652 semapv:UnspecifiedMatching
OMIM:608370 SCD5 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching
@@ -50751,9 +50753,9 @@ OMIM:608466 AHSA1 skos:exactMatch ncbigene:10598 semapv:UnspecifiedMatching
OMIM:608467 STON2 skos:exactMatch hgnc.symbol:30652 semapv:UnspecifiedMatching
OMIM:608467 STON2 skos:exactMatch hgnc.symbol:STON2 semapv:UnspecifiedMatching
OMIM:608467 STON2 skos:exactMatch ncbigene:85439 semapv:UnspecifiedMatching
-OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:14254 semapv:UnspecifiedMatching
-OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching
-OMIM:608468 CCRN4L skos:exactMatch ncbigene:25819 semapv:UnspecifiedMatching
+OMIM:608468 NOCT skos:exactMatch hgnc.symbol:14254 semapv:UnspecifiedMatching
+OMIM:608468 NOCT skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching
+OMIM:608468 NOCT skos:exactMatch ncbigene:25819 semapv:UnspecifiedMatching
OMIM:608469 DDX17 skos:exactMatch UMLS:C1413957 semapv:UnspecifiedMatching
OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:2740 semapv:UnspecifiedMatching
OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:DDX17 semapv:UnspecifiedMatching
@@ -50975,9 +50977,9 @@ OMIM:608539 GLIS2 skos:exactMatch ncbigene:84662 semapv:UnspecifiedMatching
OMIM:608540 congenital disorder of glycosylation, type ik skos:exactMatch MONDO:0012052 semapv:UnspecifiedMatching
OMIM:608540 congenital disorder of glycosylation, type ik skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching
OMIM:608540 congenital disorder of glycosylation, type ik skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching
-OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:17399 semapv:UnspecifiedMatching
-OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching
-OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching
+OMIM:608541 ARHGAP32 skos:exactMatch hgnc.symbol:17399 semapv:UnspecifiedMatching
+OMIM:608541 ARHGAP32 skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching
+OMIM:608541 ARHGAP32 skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching
OMIM:608542 aneurysm, intracranial berry, 2 skos:exactMatch MONDO:0012053 semapv:UnspecifiedMatching
OMIM:608543 schizophrenia 12 skos:exactMatch MONDO:0012054 semapv:UnspecifiedMatching
OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:18128 semapv:UnspecifiedMatching
@@ -52106,7 +52108,7 @@ OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:20321 semapv:UnspecifiedMatching
OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:UTP14C semapv:UnspecifiedMatching
OMIM:608969 UTP14C skos:exactMatch ncbigene:9724 semapv:UnspecifiedMatching
OMIM:608970 macular dystrophy, patterned, 2 skos:exactMatch MONDO:0012162 semapv:UnspecifiedMatching
-OMIM:608971 immunodeficiency 104 skos:exactMatch MONDO:0012163 semapv:UnspecifiedMatching
+OMIM:608971 immunodeficiency 104, severe combined skos:exactMatch MONDO:0012163 semapv:UnspecifiedMatching
OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:27301 semapv:UnspecifiedMatching
OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:CRTC2 semapv:UnspecifiedMatching
OMIM:608972 CRTC2 skos:exactMatch ncbigene:200186 semapv:UnspecifiedMatching
@@ -57203,19 +57205,19 @@ OMIM:610872 IBRDC3 skos:exactMatch ncbigene:127544 semapv:UnspecifiedMatching
OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:30510 semapv:UnspecifiedMatching
OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:SPATC1 semapv:UnspecifiedMatching
OMIM:610874 SPATC1 skos:exactMatch ncbigene:375686 semapv:UnspecifiedMatching
-OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:29195 semapv:UnspecifiedMatching
-OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:PPP6R1 semapv:UnspecifiedMatching
-OMIM:610875 SAPS1 skos:exactMatch ncbigene:22870 semapv:UnspecifiedMatching
+OMIM:610875 PPP6R1 skos:exactMatch hgnc.symbol:29195 semapv:UnspecifiedMatching
+OMIM:610875 PPP6R1 skos:exactMatch hgnc.symbol:PPP6R1 semapv:UnspecifiedMatching
+OMIM:610875 PPP6R1 skos:exactMatch ncbigene:22870 semapv:UnspecifiedMatching
OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:21033 semapv:UnspecifiedMatching
OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:HACE1 semapv:UnspecifiedMatching
OMIM:610876 HACE1 skos:exactMatch ncbigene:57531 semapv:UnspecifiedMatching
-OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:19253 semapv:UnspecifiedMatching
-OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:PPP6R2 semapv:UnspecifiedMatching
-OMIM:610877 SAPS2 skos:exactMatch ncbigene:9701 semapv:UnspecifiedMatching
+OMIM:610877 PPP6R2 skos:exactMatch hgnc.symbol:19253 semapv:UnspecifiedMatching
+OMIM:610877 PPP6R2 skos:exactMatch hgnc.symbol:PPP6R2 semapv:UnspecifiedMatching
+OMIM:610877 PPP6R2 skos:exactMatch ncbigene:9701 semapv:UnspecifiedMatching
OMIM:610878 vesicoureteral reflux 2 skos:exactMatch MONDO:0012573 semapv:UnspecifiedMatching
-OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:1173 semapv:UnspecifiedMatching
-OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:PPP6R3 semapv:UnspecifiedMatching
-OMIM:610879 SAPS3 skos:exactMatch ncbigene:55291 semapv:UnspecifiedMatching
+OMIM:610879 PPP6R3 skos:exactMatch hgnc.symbol:1173 semapv:UnspecifiedMatching
+OMIM:610879 PPP6R3 skos:exactMatch hgnc.symbol:PPP6R3 semapv:UnspecifiedMatching
+OMIM:610879 PPP6R3 skos:exactMatch ncbigene:55291 semapv:UnspecifiedMatching
OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:1174 semapv:UnspecifiedMatching
OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:C11orf24 semapv:UnspecifiedMatching
OMIM:610880 C11ORF24 skos:exactMatch ncbigene:53838 semapv:UnspecifiedMatching
@@ -58403,7 +58405,7 @@ OMIM:611289 LRG1 skos:exactMatch ncbigene:116844 semapv:UnspecifiedMatching
OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:25737 semapv:UnspecifiedMatching
OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:NHEJ1 semapv:UnspecifiedMatching
OMIM:611290 NHEJ1 skos:exactMatch ncbigene:79840 semapv:UnspecifiedMatching
-OMIM:611291 immunodeficiency 124 skos:exactMatch MONDO:0012650 semapv:UnspecifiedMatching
+OMIM:611291 immunodeficiency 124, severe combined skos:exactMatch MONDO:0012650 semapv:UnspecifiedMatching
OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:23139 semapv:UnspecifiedMatching
OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:CLVS1 semapv:UnspecifiedMatching
OMIM:611292 CLVS1 skos:exactMatch ncbigene:157807 semapv:UnspecifiedMatching
@@ -61671,8 +61673,7 @@ OMIM:612543 USP36 skos:exactMatch ncbigene:57602 semapv:UnspecifiedMatching
OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:19195 semapv:UnspecifiedMatching
OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:ABLIM2 semapv:UnspecifiedMatching
OMIM:612544 ABLIM2 skos:exactMatch ncbigene:84448 semapv:UnspecifiedMatching
-OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:18289 semapv:UnspecifiedMatching
-OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:ABHD11-AS1 semapv:UnspecifiedMatching
+OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:BICDL3P semapv:UnspecifiedMatching
OMIM:612545 WBSCR26 skos:exactMatch ncbigene:171022 semapv:UnspecifiedMatching
OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:19068 semapv:UnspecifiedMatching
OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:METTL27 semapv:UnspecifiedMatching
@@ -65553,9 +65554,9 @@ OMIM:614246 NAA60 skos:exactMatch ncbigene:79903 semapv:UnspecifiedMatching
OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:32112 semapv:UnspecifiedMatching
OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:MIR519D semapv:UnspecifiedMatching
OMIM:614247 MIR519D skos:exactMatch ncbigene:574480 semapv:UnspecifiedMatching
-OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:29431 semapv:UnspecifiedMatching
-OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching
-OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch ncbigene:79834 semapv:UnspecifiedMatching
+OMIM:614248 PEAK1 skos:exactMatch hgnc.symbol:29431 semapv:UnspecifiedMatching
+OMIM:614248 PEAK1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching
+OMIM:614248 PEAK1 skos:exactMatch ncbigene:79834 semapv:UnspecifiedMatching
OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy skos:exactMatch MONDO:0013651 semapv:UnspecifiedMatching
OMIM:614250 narcolepsy 7 skos:exactMatch MONDO:0013652 semapv:UnspecifiedMatching
OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch MONDO:0013653 semapv:UnspecifiedMatching
@@ -68578,7 +68579,7 @@ OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactM
OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching
OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching
OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch UMLS:C3810138 semapv:UnspecifiedMatching
-OMIM:615617 immunodeficiency 19 skos:exactMatch MONDO:0014280 semapv:UnspecifiedMatching
+OMIM:615617 immunodeficiency 19, severe combined skos:exactMatch MONDO:0014280 semapv:UnspecifiedMatching
OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:22954 semapv:UnspecifiedMatching
OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:POGLUT1 semapv:UnspecifiedMatching
OMIM:615618 POGLUT1 skos:exactMatch ncbigene:56983 semapv:UnspecifiedMatching
@@ -69631,9 +69632,9 @@ OMIM:616067 46,xy sex reversal 9 skos:exactMatch MONDO:0014480 semapv:Unspecifi
OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:43745 semapv:UnspecifiedMatching
OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:HOXA-AS2 semapv:UnspecifiedMatching
OMIM:616068 HOXAAS2 skos:exactMatch ncbigene:285943 semapv:UnspecifiedMatching
-OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch MONDO:0014481 semapv:UnspecifiedMatching
-OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching
-OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching
+OMIM:616069 neonatal nephrocutaneous inflammatory syndrome skos:exactMatch MONDO:0014481 semapv:UnspecifiedMatching
+OMIM:616069 neonatal nephrocutaneous inflammatory syndrome skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching
+OMIM:616069 neonatal nephrocutaneous inflammatory syndrome skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching
OMIM:616070 CCDC113 skos:exactMatch hgnc.symbol:CFAP263 semapv:UnspecifiedMatching
OMIM:616070 CCDC113 skos:exactMatch ncbigene:29070 semapv:UnspecifiedMatching
OMIM:616071 SPMIP4 skos:exactMatch hgnc.symbol:SPMIP4 semapv:UnspecifiedMatching
@@ -72399,7 +72400,7 @@ OMIM:617233 WDR70 skos:exactMatch ncbigene:55100 semapv:UnspecifiedMatching
OMIM:617234 oocyte/zygote/embryo maturation arrest 16 skos:exactMatch MONDO:0014978 semapv:UnspecifiedMatching
OMIM:617235 myoclonus, intractable, neonatal skos:exactMatch MONDO:0014979 semapv:UnspecifiedMatching
OMIM:617236 cone-rod dystrophy and hearing loss 1 skos:exactMatch MONDO:0020778 semapv:UnspecifiedMatching
-OMIM:617237 immunodeficiency 49 skos:exactMatch MONDO:0014981 semapv:UnspecifiedMatching
+OMIM:617237 immunodeficiency 49, severe combined skos:exactMatch MONDO:0014981 semapv:UnspecifiedMatching
OMIM:617238 myopia 25, autosomal dominant skos:exactMatch MONDO:0014982 semapv:UnspecifiedMatching
OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic skos:exactMatch MONDO:0014983 semapv:UnspecifiedMatching
OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:48872 semapv:UnspecifiedMatching
@@ -73895,8 +73896,7 @@ OMIM:617853 SVBP skos:exactMatch hgnc.symbol:29204 semapv:UnspecifiedMatching
OMIM:617853 SVBP skos:exactMatch hgnc.symbol:SVBP semapv:UnspecifiedMatching
OMIM:617853 SVBP skos:exactMatch ncbigene:374969 semapv:UnspecifiedMatching
OMIM:617854 intellectual developmental disorder, autosomal dominant 56 skos:exactMatch MONDO:0030922 semapv:UnspecifiedMatching
-OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:26475 semapv:UnspecifiedMatching
-OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:BMT2 semapv:UnspecifiedMatching
+OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:SAMTOR semapv:UnspecifiedMatching
OMIM:617855 BMT2 skos:exactMatch ncbigene:154743 semapv:UnspecifiedMatching
OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:16839 semapv:UnspecifiedMatching
OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:THEMIS2 semapv:UnspecifiedMatching
@@ -74976,8 +74976,8 @@ OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developme
OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:26235 semapv:UnspecifiedMatching
OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:CIAO2A semapv:UnspecifiedMatching
OMIM:618382 CIAO2A skos:exactMatch ncbigene:84191 semapv:UnspecifiedMatching
-OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch MONDO:0032715 semapv:UnspecifiedMatching
-OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching
+OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities skos:exactMatch MONDO:0032715 semapv:UnspecifiedMatching
+OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching
OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch MONDO:0032716 semapv:UnspecifiedMatching
OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:20039 semapv:UnspecifiedMatching
OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:CAP2 semapv:UnspecifiedMatching
@@ -77469,8 +77469,7 @@ OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:30209 semapv:UnspecifiedMatching
OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:PCP2 semapv:UnspecifiedMatching
OMIM:619344 PCP2 skos:exactMatch ncbigene:126006 semapv:UnspecifiedMatching
OMIM:619345 dysostosis multiplex, ain-naz type skos:exactMatch MONDO:0859156 semapv:UnspecifiedMatching
-OMIM:619346 ADAL skos:exactMatch hgnc.symbol:31853 semapv:UnspecifiedMatching
-OMIM:619346 ADAL skos:exactMatch hgnc.symbol:ADAL semapv:UnspecifiedMatching
+OMIM:619346 ADAL skos:exactMatch hgnc.symbol:MAPDA semapv:UnspecifiedMatching
OMIM:619346 ADAL skos:exactMatch ncbigene:161823 semapv:UnspecifiedMatching
OMIM:619347 CCDC96 skos:exactMatch hgnc.symbol:CFAP184 semapv:UnspecifiedMatching
OMIM:619347 CCDC96 skos:exactMatch ncbigene:257236 semapv:UnspecifiedMatching
@@ -78111,8 +78110,8 @@ OMIM:619674 PRADC1 skos:exactMatch ncbigene:84279 semapv:UnspecifiedMatching
OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:17777 semapv:UnspecifiedMatching
OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:UBOX5 semapv:UnspecifiedMatching
OMIM:619675 UBOX5 skos:exactMatch ncbigene:22888 semapv:UnspecifiedMatching
-OMIM:619676 TEX37 skos:exactMatch hgnc.symbol:SPMIP9 semapv:UnspecifiedMatching
-OMIM:619676 TEX37 skos:exactMatch ncbigene:200523 semapv:UnspecifiedMatching
+OMIM:619676 SPMIP9 skos:exactMatch hgnc.symbol:SPMIP9 semapv:UnspecifiedMatching
+OMIM:619676 SPMIP9 skos:exactMatch ncbigene:200523 semapv:UnspecifiedMatching
OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:1322 semapv:UnspecifiedMatching
OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:CLDND1 semapv:UnspecifiedMatching
OMIM:619677 CLDND1 skos:exactMatch ncbigene:56650 semapv:UnspecifiedMatching
@@ -78587,7 +78586,7 @@ OMIM:619922 neurodevelopmental disorder with dystonia and seizures skos:exactMat
OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:20097 semapv:UnspecifiedMatching
OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:PPP1R36 semapv:UnspecifiedMatching
OMIM:619923 PPP1R36 skos:exactMatch ncbigene:145376 semapv:UnspecifiedMatching
-OMIM:619924 immunodeficiency 105 skos:exactMatch MONDO:0800104 semapv:UnspecifiedMatching
+OMIM:619924 immunodeficiency 105, severe combined skos:exactMatch MONDO:0800104 semapv:UnspecifiedMatching
OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:24256 semapv:UnspecifiedMatching
OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:WASHC3 semapv:UnspecifiedMatching
OMIM:619925 WASHC3 skos:exactMatch ncbigene:51019 semapv:UnspecifiedMatching
@@ -80536,8 +80535,7 @@ OMIM:620870 DDI1 skos:exactMatch ncbigene:414301 semapv:UnspecifiedMatching
OMIM:620871 DDI2 skos:exactMatch hgnc.symbol:24578 semapv:UnspecifiedMatching
OMIM:620871 DDI2 skos:exactMatch hgnc.symbol:DDI2 semapv:UnspecifiedMatching
OMIM:620871 DDI2 skos:exactMatch ncbigene:84301 semapv:UnspecifiedMatching
-OMIM:620872 ADGRF2 skos:exactMatch hgnc.symbol:18991 semapv:UnspecifiedMatching
-OMIM:620872 ADGRF2 skos:exactMatch hgnc.symbol:ADGRF2 semapv:UnspecifiedMatching
+OMIM:620872 ADGRF2 skos:exactMatch hgnc.symbol:ADGRF2P semapv:UnspecifiedMatching
OMIM:620872 ADGRF2 skos:exactMatch ncbigene:222611 semapv:UnspecifiedMatching
OMIM:620873 ADGRF3 skos:exactMatch hgnc.symbol:18989 semapv:UnspecifiedMatching
OMIM:620873 ADGRF3 skos:exactMatch hgnc.symbol:ADGRF3 semapv:UnspecifiedMatching
@@ -80596,6 +80594,13 @@ OMIM:620895 ERICH5 skos:exactMatch ncbigene:203111 semapv:UnspecifiedMatching
OMIM:620896 LRRC42 skos:exactMatch hgnc.symbol:28792 semapv:UnspecifiedMatching
OMIM:620896 LRRC42 skos:exactMatch hgnc.symbol:LRRC42 semapv:UnspecifiedMatching
OMIM:620896 LRRC42 skos:exactMatch ncbigene:115353 semapv:UnspecifiedMatching
+OMIM:620898 MIR7-2 skos:exactMatch hgnc.symbol:31639 semapv:UnspecifiedMatching
+OMIM:620898 MIR7-2 skos:exactMatch hgnc.symbol:MIR7-2 semapv:UnspecifiedMatching
+OMIM:620898 MIR7-2 skos:exactMatch ncbigene:407044 semapv:UnspecifiedMatching
+OMIM:620899 MIR1179 skos:exactMatch hgnc.symbol:35260 semapv:UnspecifiedMatching
+OMIM:620899 MIR1179 skos:exactMatch hgnc.symbol:MIR1179 semapv:UnspecifiedMatching
+OMIM:620899 MIR1179 skos:exactMatch ncbigene:100302235 semapv:UnspecifiedMatching
+OMIM:620900 STRTS skos:exactMatch ncbigene:136932118 semapv:UnspecifiedMatching
OMIM:620902 TNRC18 skos:exactMatch hgnc.symbol:11962 semapv:UnspecifiedMatching
OMIM:620902 TNRC18 skos:exactMatch hgnc.symbol:TNRC18 semapv:UnspecifiedMatching
OMIM:620902 TNRC18 skos:exactMatch ncbigene:84629 semapv:UnspecifiedMatching
@@ -80614,6 +80619,54 @@ OMIM:620907 MBLAC2 skos:exactMatch ncbigene:153364 semapv:UnspecifiedMatching
OMIM:620909 KLC4 skos:exactMatch hgnc.symbol:21624 semapv:UnspecifiedMatching
OMIM:620909 KLC4 skos:exactMatch hgnc.symbol:KLC4 semapv:UnspecifiedMatching
OMIM:620909 KLC4 skos:exactMatch ncbigene:89953 semapv:UnspecifiedMatching
+OMIM:620912 MICALL2 skos:exactMatch hgnc.symbol:29672 semapv:UnspecifiedMatching
+OMIM:620912 MICALL2 skos:exactMatch hgnc.symbol:MICALL2 semapv:UnspecifiedMatching
+OMIM:620912 MICALL2 skos:exactMatch ncbigene:79778 semapv:UnspecifiedMatching
+OMIM:620913 NAT9 skos:exactMatch hgnc.symbol:23133 semapv:UnspecifiedMatching
+OMIM:620913 NAT9 skos:exactMatch hgnc.symbol:NAT9 semapv:UnspecifiedMatching
+OMIM:620913 NAT9 skos:exactMatch ncbigene:26151 semapv:UnspecifiedMatching
+OMIM:620914 MB21D2 skos:exactMatch hgnc.symbol:30438 semapv:UnspecifiedMatching
+OMIM:620914 MB21D2 skos:exactMatch hgnc.symbol:MB21D2 semapv:UnspecifiedMatching
+OMIM:620914 MB21D2 skos:exactMatch ncbigene:151963 semapv:UnspecifiedMatching
+OMIM:620915 MYO15B skos:exactMatch hgnc.symbol:14083 semapv:UnspecifiedMatching
+OMIM:620915 MYO15B skos:exactMatch hgnc.symbol:MYO15B semapv:UnspecifiedMatching
+OMIM:620915 MYO15B skos:exactMatch ncbigene:80022 semapv:UnspecifiedMatching
+OMIM:620916 ZSCAN5A skos:exactMatch hgnc.symbol:23710 semapv:UnspecifiedMatching
+OMIM:620916 ZSCAN5A skos:exactMatch hgnc.symbol:ZSCAN5A semapv:UnspecifiedMatching
+OMIM:620916 ZSCAN5A skos:exactMatch ncbigene:79149 semapv:UnspecifiedMatching
+OMIM:620918 ZSCAN5B skos:exactMatch hgnc.symbol:34246 semapv:UnspecifiedMatching
+OMIM:620918 ZSCAN5B skos:exactMatch hgnc.symbol:ZSCAN5B semapv:UnspecifiedMatching
+OMIM:620918 ZSCAN5B skos:exactMatch ncbigene:342933 semapv:UnspecifiedMatching
+OMIM:620919 MANEAL skos:exactMatch hgnc.symbol:26452 semapv:UnspecifiedMatching
+OMIM:620919 MANEAL skos:exactMatch hgnc.symbol:MANEAL semapv:UnspecifiedMatching
+OMIM:620919 MANEAL skos:exactMatch ncbigene:149175 semapv:UnspecifiedMatching
+OMIM:620920 KRBA2 skos:exactMatch hgnc.symbol:26989 semapv:UnspecifiedMatching
+OMIM:620920 KRBA2 skos:exactMatch hgnc.symbol:KRBA2 semapv:UnspecifiedMatching
+OMIM:620920 KRBA2 skos:exactMatch ncbigene:124751 semapv:UnspecifiedMatching
+OMIM:620921 ZNF512 skos:exactMatch hgnc.symbol:29380 semapv:UnspecifiedMatching
+OMIM:620921 ZNF512 skos:exactMatch hgnc.symbol:ZNF512 semapv:UnspecifiedMatching
+OMIM:620921 ZNF512 skos:exactMatch ncbigene:84450 semapv:UnspecifiedMatching
+OMIM:620922 LRRIQ1 skos:exactMatch hgnc.symbol:25708 semapv:UnspecifiedMatching
+OMIM:620922 LRRIQ1 skos:exactMatch hgnc.symbol:LRRIQ1 semapv:UnspecifiedMatching
+OMIM:620922 LRRIQ1 skos:exactMatch ncbigene:84125 semapv:UnspecifiedMatching
+OMIM:620924 NLE1 skos:exactMatch hgnc.symbol:19889 semapv:UnspecifiedMatching
+OMIM:620924 NLE1 skos:exactMatch hgnc.symbol:NLE1 semapv:UnspecifiedMatching
+OMIM:620924 NLE1 skos:exactMatch ncbigene:54475 semapv:UnspecifiedMatching
+OMIM:620925 LRRC31 skos:exactMatch hgnc.symbol:26261 semapv:UnspecifiedMatching
+OMIM:620925 LRRC31 skos:exactMatch hgnc.symbol:LRRC31 semapv:UnspecifiedMatching
+OMIM:620925 LRRC31 skos:exactMatch ncbigene:79782 semapv:UnspecifiedMatching
+OMIM:620927 LRRC46 skos:exactMatch hgnc.symbol:25047 semapv:UnspecifiedMatching
+OMIM:620927 LRRC46 skos:exactMatch hgnc.symbol:LRRC46 semapv:UnspecifiedMatching
+OMIM:620927 LRRC46 skos:exactMatch ncbigene:90506 semapv:UnspecifiedMatching
+OMIM:620928 JMJD4 skos:exactMatch hgnc.symbol:25724 semapv:UnspecifiedMatching
+OMIM:620928 JMJD4 skos:exactMatch hgnc.symbol:JMJD4 semapv:UnspecifiedMatching
+OMIM:620928 JMJD4 skos:exactMatch ncbigene:65094 semapv:UnspecifiedMatching
+OMIM:620929 MOB3A skos:exactMatch hgnc.symbol:29802 semapv:UnspecifiedMatching
+OMIM:620929 MOB3A skos:exactMatch hgnc.symbol:MOB3A semapv:UnspecifiedMatching
+OMIM:620929 MOB3A skos:exactMatch ncbigene:126308 semapv:UnspecifiedMatching
+OMIM:620930 MROH2B skos:exactMatch hgnc.symbol:26857 semapv:UnspecifiedMatching
+OMIM:620930 MROH2B skos:exactMatch hgnc.symbol:MROH2B semapv:UnspecifiedMatching
+OMIM:620930 MROH2B skos:exactMatch ncbigene:133558 semapv:UnspecifiedMatching
omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching
omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching
omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching
@@ -81154,7 +81207,7 @@ omim.ps:613658 Rajab interstitial lung disease with brain calcifications skos:ex
omim.ps:614039 Cortical dysplasia, complex, with other brain malformations skos:exactMatch MONDO:0000904 semapv:UnspecifiedMatching
omim.ps:614080 Multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch MONDO:0100247 semapv:UnspecifiedMatching
omim.ps:614231 Microcephaly, epilepsy, and diabetes syndrome skos:exactMatch MONDO:0100328 semapv:UnspecifiedMatching
-omim.ps:614328 Neonatal inflammatory skin and bowel disease skos:exactMatch MONDO:0017411 semapv:UnspecifiedMatching
+omim.ps:614328 skos:exactMatch MONDO:0017411 semapv:UnspecifiedMatching
omim.ps:614372 Lectin complement activation pathway defects skos:exactMatch MONDO:0044209 semapv:UnspecifiedMatching
omim.ps:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission skos:exactMatch MONDO:0054865 semapv:UnspecifiedMatching
omim.ps:614429 Ventricular septal defect skos:exactMatch MONDO:0002070 semapv:UnspecifiedMatching
diff --git a/src/ontology/external/mondo-omim-genes.robot.owl b/src/ontology/external/mondo-omim-genes.robot.owl
index 7ffb58fff..236cfa226 100644
--- a/src/ontology/external/mondo-omim-genes.robot.owl
+++ b/src/ontology/external/mondo-omim-genes.robot.owl
@@ -8,7 +8,7 @@
xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#">
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-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:619539
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:620658
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:620813
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:620814
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:620815
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:620817
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:620852
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:616263
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ OMIM:615559
+
diff --git a/src/ontology/external/mondo-omim-genes.robot.tsv b/src/ontology/external/mondo-omim-genes.robot.tsv
index 5e96963ab..c8db5dbd4 100644
--- a/src/ontology/external/mondo-omim-genes.robot.tsv
+++ b/src/ontology/external/mondo-omim-genes.robot.tsv
@@ -1,3276 +1,3276 @@
mondo_id hgnc_id omim_disease_xref omim_gene
ID SC 'has material basis in germline mutation in' some % >A oboInOwl:source
-http://purl.obolibrary.org/obo/MONDO_0000208 https://identifiers.org/hgnc/28403 OMIM:616033 https://omim.org/entry/616013
-http://purl.obolibrary.org/obo/MONDO_0000908 https://identifiers.org/hgnc/2511 OMIM:615616 https://omim.org/entry/607667
-http://purl.obolibrary.org/obo/MONDO_0000909 https://identifiers.org/hgnc/2026 OMIM:613090 https://omim.org/entry/602024
-http://purl.obolibrary.org/obo/MONDO_0001056 https://identifiers.org/hgnc/5992 OMIM:613659 https://omim.org/entry/147720
-http://purl.obolibrary.org/obo/MONDO_0002009 https://identifiers.org/hgnc/3721 OMIM:608516 https://omim.org/entry/602623
-http://purl.obolibrary.org/obo/MONDO_0003789 https://identifiers.org/hgnc/9343 OMIM:605074 https://omim.org/entry/179755
-http://purl.obolibrary.org/obo/MONDO_0004573 https://identifiers.org/hgnc/30225 OMIM:615026 https://omim.org/entry/607883
-http://purl.obolibrary.org/obo/MONDO_0006065 https://identifiers.org/hgnc/6949 OMIM:223100 https://omim.org/entry/601806
-http://purl.obolibrary.org/obo/MONDO_0007032 https://identifiers.org/hgnc/1952 OMIM:100100 https://omim.org/entry/118494
-http://purl.obolibrary.org/obo/MONDO_0007060 https://identifiers.org/hgnc/29935 OMIM:102530 https://omim.org/entry/609856
-http://purl.obolibrary.org/obo/MONDO_0007068 https://identifiers.org/hgnc/291 OMIM:103050 https://omim.org/entry/608222
-http://purl.obolibrary.org/obo/MONDO_0007097 https://identifiers.org/hgnc/4620 OMIM:105120 https://omim.org/entry/137350
-http://purl.obolibrary.org/obo/MONDO_0007103 https://identifiers.org/hgnc/9461 OMIM:105400 https://omim.org/entry/170710
-http://purl.obolibrary.org/obo/MONDO_0007104 https://identifiers.org/hgnc/17994 OMIM:105500 https://omim.org/entry/605692
-http://purl.obolibrary.org/obo/MONDO_0007105 https://identifiers.org/hgnc/28337 OMIM:105550 https://omim.org/entry/614260
-http://purl.obolibrary.org/obo/MONDO_0007109 https://identifiers.org/hgnc/6392 OMIM:105600 https://omim.org/entry/605064
-http://purl.obolibrary.org/obo/MONDO_0007110 https://identifiers.org/hgnc/10402 OMIM:105650 https://omim.org/entry/603474
-http://purl.obolibrary.org/obo/MONDO_0007113 https://identifiers.org/hgnc/12496 OMIM:105830 https://omim.org/entry/601623
-http://purl.obolibrary.org/obo/MONDO_0007118 https://identifiers.org/hgnc/6181 OMIM:106190 https://omim.org/entry/600144
-http://purl.obolibrary.org/obo/MONDO_0007145 https://identifiers.org/hgnc/23505 OMIM:107600 https://omim.org/entry/611448
-http://purl.obolibrary.org/obo/MONDO_0007176 https://identifiers.org/hgnc/11714 OMIM:108985 https://omim.org/entry/189967
-http://purl.obolibrary.org/obo/MONDO_0007204 https://identifiers.org/hgnc/8548 OMIM:112240 https://omim.org/entry/176790
-http://purl.obolibrary.org/obo/MONDO_0007205 https://identifiers.org/hgnc/7413 OMIM:112250 https://omim.org/entry/156540
-http://purl.obolibrary.org/obo/MONDO_0007211 https://identifiers.org/hgnc/8778 OMIM:112410 https://omim.org/entry/123805
-http://purl.obolibrary.org/obo/MONDO_0007235 https://identifiers.org/hgnc/11742 OMIM:113620 https://omim.org/entry/107580
-http://purl.obolibrary.org/obo/MONDO_0007243 https://identifiers.org/hgnc/7553 OMIM:113970 https://omim.org/entry/190080
-http://purl.obolibrary.org/obo/MONDO_0007256 https://identifiers.org/hgnc/5467 OMIM:114550 https://omim.org/entry/147280
-http://purl.obolibrary.org/obo/MONDO_0007272 https://identifiers.org/hgnc/13815 OMIM:115300 https://omim.org/entry/605748
-http://purl.obolibrary.org/obo/MONDO_0007281 https://identifiers.org/hgnc/2411 OMIM:115700 https://omim.org/entry/123690
-http://purl.obolibrary.org/obo/MONDO_0007283 https://identifiers.org/hgnc/2395 OMIM:115900 https://omim.org/entry/600836
-http://purl.obolibrary.org/obo/MONDO_0007284 https://identifiers.org/hgnc/2417 OMIM:116100 https://omim.org/entry/123730
-http://purl.obolibrary.org/obo/MONDO_0007285 https://identifiers.org/hgnc/4281 OMIM:116200 https://omim.org/entry/600897
-http://purl.obolibrary.org/obo/MONDO_0007286 https://identifiers.org/hgnc/12692 OMIM:116300 https://omim.org/entry/193060
-http://purl.obolibrary.org/obo/MONDO_0007288 https://identifiers.org/hgnc/3386 OMIM:116600 https://omim.org/entry/176946
-http://purl.obolibrary.org/obo/MONDO_0007290 https://identifiers.org/hgnc/5227 OMIM:116800 https://omim.org/entry/602438
-http://purl.obolibrary.org/obo/MONDO_0007293 https://identifiers.org/hgnc/6155 OMIM:116920 https://omim.org/entry/600065
-http://purl.obolibrary.org/obo/MONDO_0007296 https://identifiers.org/hgnc/24160 OMIM:117210 https://omim.org/entry/612051
-http://purl.obolibrary.org/obo/MONDO_0007301 https://identifiers.org/hgnc/11153 OMIM:117650 https://omim.org/entry/182282
-http://purl.obolibrary.org/obo/MONDO_0007315 https://identifiers.org/hgnc/10825 OMIM:118400 https://omim.org/entry/602104
-http://purl.obolibrary.org/obo/MONDO_0007342 https://identifiers.org/hgnc/9004 OMIM:119800 https://omim.org/entry/602149
-http://purl.obolibrary.org/obo/MONDO_0007355 https://identifiers.org/hgnc/16262 OMIM:120433 https://omim.org/entry/606608
-http://purl.obolibrary.org/obo/MONDO_0007366 https://identifiers.org/hgnc/6297 OMIM:121201 https://omim.org/entry/602232
-http://purl.obolibrary.org/obo/MONDO_0007374 https://identifiers.org/hgnc/30791 OMIM:121800 https://omim.org/entry/611632
-http://purl.obolibrary.org/obo/MONDO_0007376 https://identifiers.org/hgnc/23785 OMIM:121850 https://omim.org/entry/609414
-http://purl.obolibrary.org/obo/MONDO_0007378 https://identifiers.org/hgnc/15804 OMIM:122000 https://omim.org/entry/616441
-http://purl.obolibrary.org/obo/MONDO_0007387 https://identifiers.org/hgnc/28862 OMIM:122470 https://omim.org/entry/608667
-http://purl.obolibrary.org/obo/MONDO_0007389 https://identifiers.org/hgnc/11605 OMIM:122600 https://omim.org/entry/602427
-http://purl.obolibrary.org/obo/MONDO_0007436 https://identifiers.org/hgnc/20323 OMIM:125400 https://omim.org/entry/607223
-http://purl.obolibrary.org/obo/MONDO_0007447 https://identifiers.org/hgnc/3337 OMIM:125630 https://omim.org/entry/606100
-http://purl.obolibrary.org/obo/MONDO_0007450 https://identifiers.org/hgnc/894 OMIM:125700 https://omim.org/entry/192340
-http://purl.obolibrary.org/obo/MONDO_0007451 https://identifiers.org/hgnc/634 OMIM:125800 https://omim.org/entry/107777
-http://purl.obolibrary.org/obo/MONDO_0007470 https://identifiers.org/hgnc/28395 OMIM:126550 https://omim.org/entry/611574
-http://purl.obolibrary.org/obo/MONDO_0007488 https://identifiers.org/hgnc/11140 OMIM:127750 https://omim.org/entry/602569
-http://purl.obolibrary.org/obo/MONDO_0007534 https://identifiers.org/hgnc/6295 OMIM:130650 https://omim.org/entry/604115
-http://purl.obolibrary.org/obo/MONDO_0007538 https://identifiers.org/hgnc/24797 OMIM:130900 https://omim.org/entry/611927
-http://purl.obolibrary.org/obo/MONDO_0007572 https://identifiers.org/hgnc/3416 OMIM:133100 https://omim.org/entry/133171
-http://purl.obolibrary.org/obo/MONDO_0007606 https://identifiers.org/hgnc/171 OMIM:135100 https://omim.org/entry/102576
-http://purl.obolibrary.org/obo/MONDO_0007610 https://identifiers.org/hgnc/35 OMIM:135400 https://omim.org/entry/612503
-http://purl.obolibrary.org/obo/MONDO_0007617 https://identifiers.org/hgnc/18040 OMIM:135900 https://omim.org/entry/614556
-http://purl.obolibrary.org/obo/MONDO_0007634 https://identifiers.org/hgnc/29284 OMIM:136630 https://omim.org/entry/611379
-http://purl.obolibrary.org/obo/MONDO_0007636 https://identifiers.org/hgnc/449 OMIM:136760 https://omim.org/entry/606014
-http://purl.obolibrary.org/obo/MONDO_0007639 https://identifiers.org/hgnc/9940 OMIM:136880 https://omim.org/entry/601617
-http://purl.obolibrary.org/obo/MONDO_0007640 https://identifiers.org/hgnc/11822 OMIM:136900 https://omim.org/entry/188826
-http://purl.obolibrary.org/obo/MONDO_0007646 https://identifiers.org/hgnc/4912 OMIM:137200 https://omim.org/entry/601314
-http://purl.obolibrary.org/obo/MONDO_0007661 https://identifiers.org/hgnc/4855 OMIM:137580 https://omim.org/entry/142704
-http://purl.obolibrary.org/obo/MONDO_0007664 https://identifiers.org/hgnc/7610 OMIM:137750 https://omim.org/entry/601652
-http://purl.obolibrary.org/obo/MONDO_0007672 https://identifiers.org/hgnc/14373 OMIM:138000 https://omim.org/entry/601749
-http://purl.obolibrary.org/obo/MONDO_0007686 https://identifiers.org/hgnc/31928 OMIM:139090 https://omim.org/entry/614169
-http://purl.obolibrary.org/obo/MONDO_0007728 https://identifiers.org/hgnc/17091 OMIM:142690 https://omim.org/entry/605254
-http://purl.obolibrary.org/obo/MONDO_0007732 https://identifiers.org/hgnc/11604 OMIM:142900 https://omim.org/entry/601620
-http://purl.obolibrary.org/obo/MONDO_0007734 https://identifiers.org/hgnc/11776 OMIM:142946 https://omim.org/entry/602630
-http://purl.obolibrary.org/obo/MONDO_0007738 https://identifiers.org/hgnc/1971 OMIM:143095 https://omim.org/entry/603799
-http://purl.obolibrary.org/obo/MONDO_0007740 https://identifiers.org/hgnc/2464 OMIM:143200 https://omim.org/entry/118661
-http://purl.obolibrary.org/obo/MONDO_0007747 https://identifiers.org/hgnc/1371 OMIM:143860 https://omim.org/entry/603263
-http://purl.obolibrary.org/obo/MONDO_0007748 https://identifiers.org/hgnc/21285 OMIM:143870 https://omim.org/entry/605205
-http://purl.obolibrary.org/obo/MONDO_0007758 https://identifiers.org/hgnc/6447 OMIM:144200 https://omim.org/entry/607606
-http://purl.obolibrary.org/obo/MONDO_0007777 https://identifiers.org/hgnc/11052 OMIM:145350 https://omim.org/entry/186854
-http://purl.obolibrary.org/obo/MONDO_0007794 https://identifiers.org/hgnc/4421 OMIM:146110 https://omim.org/entry/138850
-http://purl.obolibrary.org/obo/MONDO_0007796 https://identifiers.org/hgnc/9606 OMIM:146200 https://omim.org/entry/168450
-http://purl.obolibrary.org/obo/MONDO_0007797 https://identifiers.org/hgnc/4172 OMIM:146255 https://omim.org/entry/131320
-http://purl.obolibrary.org/obo/MONDO_0007812 https://identifiers.org/hgnc/26321 OMIM:146750 https://omim.org/entry/611765
-http://purl.obolibrary.org/obo/MONDO_0007813 https://identifiers.org/hgnc/6439 OMIM:146800 https://omim.org/entry/600194
-http://purl.obolibrary.org/obo/MONDO_0007828 https://identifiers.org/hgnc/20152 OMIM:147430 https://omim.org/entry/617828
-http://purl.obolibrary.org/obo/MONDO_0007834 https://identifiers.org/hgnc/23145 OMIM:147630 https://omim.org/entry/610303
-http://purl.obolibrary.org/obo/MONDO_0007846 https://identifiers.org/hgnc/21316 OMIM:148050 https://omim.org/entry/611192
-http://purl.obolibrary.org/obo/MONDO_0007856 https://identifiers.org/hgnc/20788 OMIM:148500 https://omim.org/entry/614404
-http://purl.obolibrary.org/obo/MONDO_0007858 https://identifiers.org/hgnc/25662 OMIM:148600 https://omim.org/entry/614888
-http://purl.obolibrary.org/obo/MONDO_0007868 https://identifiers.org/hgnc/4326 OMIM:149400 https://omim.org/entry/138491
-http://purl.obolibrary.org/obo/MONDO_0007871 https://identifiers.org/hgnc/5950 OMIM:149700 https://omim.org/entry/603491
-http://purl.obolibrary.org/obo/MONDO_0007883 https://identifiers.org/hgnc/12754 OMIM:150550 https://omim.org/entry/604734
-http://purl.obolibrary.org/obo/MONDO_0007892 https://identifiers.org/hgnc/9587 OMIM:151050 https://omim.org/entry/612792
-http://purl.obolibrary.org/obo/MONDO_0007900 https://identifiers.org/hgnc/9060 OMIM:151600 https://omim.org/entry/602142
-http://purl.obolibrary.org/obo/MONDO_0007915 https://identifiers.org/hgnc/2956 OMIM:152700 https://omim.org/entry/125505
-http://purl.obolibrary.org/obo/MONDO_0007918 https://identifiers.org/hgnc/6388 OMIM:152950 https://omim.org/entry/148760
-http://purl.obolibrary.org/obo/MONDO_0007925 https://identifiers.org/hgnc/10387 OMIM:153550 https://omim.org/entry/130620
-http://purl.obolibrary.org/obo/MONDO_0007937 https://identifiers.org/hgnc/4026 OMIM:154020 https://omim.org/entry/601814
-http://purl.obolibrary.org/obo/MONDO_0007943 https://identifiers.org/hgnc/10771 OMIM:154400 https://omim.org/entry/605593
-http://purl.obolibrary.org/obo/MONDO_0007944 https://identifiers.org/hgnc/11654 OMIM:154500 https://omim.org/entry/606847
-http://purl.obolibrary.org/obo/MONDO_0007959 https://identifiers.org/hgnc/23694 OMIM:155255 https://omim.org/entry/612250
-http://purl.obolibrary.org/obo/MONDO_0007974 https://identifiers.org/hgnc/20444 OMIM:156200 https://omim.org/entry/611472
-http://purl.obolibrary.org/obo/MONDO_0007983 https://identifiers.org/hgnc/2185 OMIM:156500 https://omim.org/entry/120110
-http://purl.obolibrary.org/obo/MONDO_0008044 https://identifiers.org/hgnc/10808 OMIM:159900 https://omim.org/entry/604149
-http://purl.obolibrary.org/obo/MONDO_0008047 https://identifiers.org/hgnc/6218 OMIM:160120 https://omim.org/entry/176260
-http://purl.obolibrary.org/obo/MONDO_0008048 https://identifiers.org/hgnc/26190 OMIM:160150 https://omim.org/entry/611089
-http://purl.obolibrary.org/obo/MONDO_0008056 https://identifiers.org/hgnc/2933 OMIM:160900 https://omim.org/entry/605377
-http://purl.obolibrary.org/obo/MONDO_0008060 https://identifiers.org/hgnc/4044 OMIM:161050 https://omim.org/entry/603409
-http://purl.obolibrary.org/obo/MONDO_0008062 https://identifiers.org/hgnc/4847 OMIM:161400 https://omim.org/entry/602358
-http://purl.obolibrary.org/obo/MONDO_0008073 https://identifiers.org/hgnc/12559 OMIM:162000 https://omim.org/entry/191845
-http://purl.obolibrary.org/obo/MONDO_0008076 https://identifiers.org/hgnc/7323 OMIM:162100 https://omim.org/entry/604061
-http://purl.obolibrary.org/obo/MONDO_0008083 https://identifiers.org/hgnc/16235 OMIM:162350 https://omim.org/entry/611203
-http://purl.obolibrary.org/obo/MONDO_0008119 https://identifiers.org/hgnc/10548 OMIM:164400 https://omim.org/entry/601556
-http://purl.obolibrary.org/obo/MONDO_0008123 https://identifiers.org/hgnc/4040 OMIM:164745 https://omim.org/entry/600667
-http://purl.obolibrary.org/obo/MONDO_0008135 https://identifiers.org/hgnc/11317 OMIM:165510 https://omim.org/entry/600439
-http://purl.obolibrary.org/obo/MONDO_0008143 https://identifiers.org/hgnc/3959 OMIM:165720 https://omim.org/entry/605083
-http://purl.obolibrary.org/obo/MONDO_0008162 https://identifiers.org/hgnc/23336 OMIM:166760 https://omim.org/entry/610627
-http://purl.obolibrary.org/obo/MONDO_0008170 https://identifiers.org/hgnc/8143 OMIM:167000 https://omim.org/entry/600632
-http://purl.obolibrary.org/obo/MONDO_0008206 https://identifiers.org/hgnc/1165 OMIM:168885 https://omim.org/entry/614015
-http://purl.obolibrary.org/obo/MONDO_0008218 https://identifiers.org/hgnc/13211 OMIM:169600 https://omim.org/entry/604384
-http://purl.obolibrary.org/obo/MONDO_0008221 https://identifiers.org/hgnc/8840 OMIM:170100 https://omim.org/entry/613230
-http://purl.obolibrary.org/obo/MONDO_0008233 https://identifiers.org/hgnc/26038 OMIM:171300 https://omim.org/entry/613403
-http://purl.obolibrary.org/obo/MONDO_0008260 https://identifiers.org/hgnc/15889 OMIM:173650 https://omim.org/entry/607900
-http://purl.obolibrary.org/obo/MONDO_0008263 https://identifiers.org/hgnc/9008 OMIM:173900 https://omim.org/entry/601313
-http://purl.obolibrary.org/obo/MONDO_0008265 https://identifiers.org/hgnc/9411 OMIM:174050 https://omim.org/entry/177060
-http://purl.obolibrary.org/obo/MONDO_0008267 https://identifiers.org/hgnc/25360 OMIM:174300 https://omim.org/entry/615464
-http://purl.obolibrary.org/obo/MONDO_0008290 https://identifiers.org/hgnc/9141 OMIM:175800 https://omim.org/entry/607622
-http://purl.obolibrary.org/obo/MONDO_0008305 https://identifiers.org/hgnc/4979 OMIM:176450 https://omim.org/entry/142994
-http://purl.obolibrary.org/obo/MONDO_0008319 https://identifiers.org/hgnc/3647 OMIM:177000 https://omim.org/entry/612386
-http://purl.obolibrary.org/obo/MONDO_0008377 https://identifiers.org/hgnc/10263 OMIM:180100 https://omim.org/entry/603937
-http://purl.obolibrary.org/obo/MONDO_0008378 https://identifiers.org/hgnc/10288 OMIM:180104 https://omim.org/entry/607331
-http://purl.obolibrary.org/obo/MONDO_0008404 https://identifiers.org/hgnc/18249 OMIM:181270 https://omim.org/entry/613420
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-http://purl.obolibrary.org/obo/MONDO_0008426 https://identifiers.org/hgnc/10896 OMIM:182212 https://omim.org/entry/164780
-http://purl.obolibrary.org/obo/MONDO_0008434 https://identifiers.org/hgnc/9834 OMIM:182290 https://omim.org/entry/607642
-http://purl.obolibrary.org/obo/MONDO_0008438 https://identifiers.org/hgnc/11233 OMIM:182601 https://omim.org/entry/604277
-http://purl.obolibrary.org/obo/MONDO_0008447 https://identifiers.org/hgnc/492 OMIM:182900 https://omim.org/entry/612641
-http://purl.obolibrary.org/obo/MONDO_0008535 https://identifiers.org/hgnc/3349 OMIM:187300 https://omim.org/entry/131195
-http://purl.obolibrary.org/obo/MONDO_0008553 https://identifiers.org/hgnc/4238 OMIM:187900 https://omim.org/entry/604383
-http://purl.obolibrary.org/obo/MONDO_0008555 https://identifiers.org/hgnc/29186 OMIM:188000 https://omim.org/entry/610855
-http://purl.obolibrary.org/obo/MONDO_0008566 https://identifiers.org/hgnc/17382 OMIM:188470 https://omim.org/entry/606523
-http://purl.obolibrary.org/obo/MONDO_0008593 https://identifiers.org/hgnc/3683 OMIM:190330 https://omim.org/entry/165190
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-http://purl.obolibrary.org/obo/MONDO_0008647 https://identifiers.org/hgnc/16243 OMIM:192600 https://omim.org/entry/606566
-http://purl.obolibrary.org/obo/MONDO_0008676 https://identifiers.org/hgnc/6441 OMIM:193900 https://omim.org/entry/123940
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+http://purl.obolibrary.org/obo/MONDO_0971012 http://identifiers.org/hgnc/11566 OMIM:620814 https://omim.org/entry/601962
+http://purl.obolibrary.org/obo/MONDO_0971013 http://identifiers.org/hgnc/9987 OMIM:620815 https://omim.org/entry/603200
+http://purl.obolibrary.org/obo/MONDO_0971015 http://identifiers.org/hgnc/9988 OMIM:620817 https://omim.org/entry/601861
+http://purl.obolibrary.org/obo/MONDO_0971043 http://identifiers.org/hgnc/12739 OMIM:620852 https://omim.org/entry/604981
+http://purl.obolibrary.org/obo/MONDO_8000012 http://identifiers.org/hgnc/24265 OMIM:616263 https://omim.org/entry/608625
+http://purl.obolibrary.org/obo/MONDO_8000024 http://identifiers.org/hgnc/9399 OMIM:615559 https://omim.org/entry/176977
diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl
index 6a855f643..8b81ad85e 100644
--- a/src/ontology/external/nando-mappings.robot.owl
+++ b/src/ontology/external/nando-mappings.robot.owl
@@ -8,7 +8,7 @@
xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#">
-
+
diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl
index d1b250543..16d4a1dc9 100644
--- a/src/ontology/external/nord.robot.owl
+++ b/src/ontology/external/nord.robot.owl
@@ -8,7 +8,7 @@
xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#">
-
+
@@ -823,6 +823,20 @@
+
+
+
+
+
+
+
+
+
+ MONDO:NORD
+
+
+
+
@@ -1340,6 +1354,13 @@
Pinta
+
+
+
+ Pinta
+ NORD:1580
+ http://purl.obolibrary.org/obo/mondo#NORD_LABEL
+
@@ -1353,13 +1374,6 @@
NORD:1580
MONDO:NORD
-
-
-
- Pinta
- NORD:1580
- http://purl.obolibrary.org/obo/mondo#NORD_LABEL
-
@@ -5268,6 +5282,20 @@
+
+
+
+
+
+
+
+
+
+ MONDO:NORD
+
+
+
+
@@ -8574,6 +8602,20 @@
+
+
+
+
+
+
+
+
+
+ MONDO:NORD
+
+
+
+
@@ -12961,6 +13003,13 @@
Mixed Cryoglobulinemia
+
+
+
+
+ MONDO:NORD
+ NORD:1452
+
@@ -12974,13 +13023,6 @@
NORD:1452
http://purl.obolibrary.org/obo/mondo#NORD_LABEL
-
-
-
-
- MONDO:NORD
- NORD:1452
-
@@ -16352,20 +16394,6 @@
-
-
-
-
-
-
-
-
-
- MONDO:NORD
-
-
-
-
@@ -22847,36 +22875,6 @@
-
-
-
- NORD:1789
- Trichorhinophalangeal Syndrome Type III
-
-
-
-
-
- NORD:1789
- MONDO:NORD
-
-
-
-
- Trichorhinophalangeal Syndrome Type III
- NORD:1789
- http://purl.obolibrary.org/obo/mondo#NORD_LABEL
-
-
-
-
-
- MONDO:NORD
- NORD:1789
-
-
-
-
@@ -72145,62 +72143,6 @@
-
-
-
-
-
-
-
-
-
- MONDO:NORD
-
-
-
-
-
-
-
-
-
-
-
-
-
- MONDO:NORD
-
-
-
-
-
-
-
-
-
-
-
-
-
- MONDO:NORD
-
-
-
-
-
-
-
-
-
-
-
-
-
- MONDO:NORD
-
-
-
-
@@ -141616,6 +141558,20 @@
+
+
+
+
+
+
+
+
+
+ MONDO:NORD
+
+
+
+
@@ -149160,20 +149116,6 @@
-
-
-
-
-
-
-
-
-
- MONDO:NORD
-
-
-
-
diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv
index 2048bcdf6..819935a92 100644
--- a/src/ontology/external/nord.robot.tsv
+++ b/src/ontology/external/nord.robot.tsv
@@ -1,5 +1,6 @@
mondo_id report_ref report_ref_source preferred_name preferred_name_source synonym_type subset subset_source subset_source2
ID A oboInOwl:hasDbXref >A oboInOwl:source A oboInOwl:hasExactSynonym >A oboInOwl:hasDbXref >A oboInOwl:hasSynonymType AI oboInOwl:inSubset >A oboInOwl:source >A oboInOwl:source
+MONDO:0032745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0031115 ADCY5-Related Dyskinesia http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0025956 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0859365 TRPM3-Related Neurodevelopmental Disorder http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -267,7 +268,6 @@ MONDO:0054794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0054785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0054780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0054782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0054771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0054776 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0054763 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0054764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -5436,12 +5436,8 @@ MONDO:0013838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0013839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0013836 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0013837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0013832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0013833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0013834 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0013835 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0013830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0013831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0013827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0013828 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0013829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -8692,7 +8688,6 @@ MONDO:0008610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0008607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008599 NORD:1791 MONDO:NORD NORD:1791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1791 MONDO:NORD
-MONDO:0008597 NORD:1789 MONDO:NORD Trichorhinophalangeal Syndrome Type III NORD:1789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1789 MONDO:NORD
MONDO:0008594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008596 NORD:1787 MONDO:NORD NORD:1787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1787 MONDO:NORD
MONDO:0008592 NORD:1786 MONDO:NORD Tricho Dento Osseous Syndrome NORD:1786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1786 MONDO:NORD
@@ -9092,7 +9087,6 @@ MONDO:0007854 NORD:1286 MONDO:NORD NORD:1286 http://purl.obolibrary.org/obo/mon
MONDO:0007856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0007853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0007850 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0007851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0007852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0007846 NORD:1322 MONDO:NORD NORD:1322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1322 MONDO:NORD
MONDO:0007848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9574,6 +9568,7 @@ MONDO:0006360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0006346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0006339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0006335 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0006325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0006292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0006290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0006288 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -10072,6 +10067,7 @@ MONDO:0000519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0000507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000463 NORD:1515 MONDO:NORD Urofacial Syndrome NORD:1515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1515 MONDO:NORD
+MONDO:0000456 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000453 NORD:2019 MONDO:NORD NORD:2019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2019 MONDO:NORD
MONDO:0000455 NORD:991 MONDO:NORD NORD:991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:991 MONDO:NORD
MONDO:0000437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -10158,4 +10154,5 @@ MONDO:0007758 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0007525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0004651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl
index c520e1a5e..23e8b1f59 100644
--- a/src/ontology/external/ordo-subsets.robot.owl
+++ b/src/ontology/external/ordo-subsets.robot.owl
@@ -8,7 +8,7 @@
xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#">
-
+
@@ -887,6 +887,20 @@
+
+
+
+ http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
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+
+
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+ http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
+ Orphanet:659681
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+
+
+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:662721
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- Orphanet:98808
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:662198
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:664410
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:672979
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@@ -48101,6 +48157,20 @@
+
+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:476096
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@@ -49403,6 +49473,20 @@
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:574918
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@@ -49809,6 +49893,20 @@
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:672985
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@@ -51111,6 +51209,20 @@
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:659702
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@@ -96348,20 +96460,6 @@
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-
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- http://purl.obolibrary.org/obo/mondo#ordo_disorder
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- http://purl.obolibrary.org/obo/mondo#ordo_disorder
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- http://purl.obolibrary.org/obo/mondo#ordo_disorder
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- http://purl.obolibrary.org/obo/mondo#ordo_disorder
- Orphanet:1331
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@@ -118125,6 +118209,20 @@
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:675814
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@@ -118299,6 +118397,20 @@
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:662184
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@@ -118327,6 +118439,34 @@
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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@@ -119195,6 +119335,20 @@
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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@@ -119937,6 +120091,20 @@
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:659609
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@@ -119965,6 +120133,20 @@
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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@@ -119993,6 +120175,20 @@
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+
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:675767
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@@ -120021,6 +120217,20 @@
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:676039
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@@ -120049,6 +120259,34 @@
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
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+ http://purl.obolibrary.org/obo/mondo#ordo_disorder
+ Orphanet:662175
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@@ -123059,20 +123297,6 @@
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diff --git a/src/ontology/external/ordo-subsets.robot.tsv b/src/ontology/external/ordo-subsets.robot.tsv
index 87451850c..a0f5dd643 100644
--- a/src/ontology/external/ordo-subsets.robot.tsv
+++ b/src/ontology/external/ordo-subsets.robot.tsv
@@ -60,6 +60,7 @@ MONDO:0001569 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or
MONDO:0001586 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:579 mucopolysaccharidosis type 1 Mucopolysaccharidosis type 1
MONDO:0001595 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1429 choreatic disease Benign hereditary chorea
MONDO:0001633 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:648684 central retinal artery occlusion Central retinal artery occlusion
+MONDO:0001676 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:659681 erythropoietic protoporphyria Erythropoietic porphyria
MONDO:0001703 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:98658 color vision disorder Color-vision disease
MONDO:0001713 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:68383 inherited aplastic anemia Rare constitutional aplastic anemia
MONDO:0001734 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:805 tuberous sclerosis Tuberous sclerosis complex
@@ -272,6 +273,7 @@ MONDO:0005888 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:660053
MONDO:0005893 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:506098 pancreatic endocrine carcinoma Neuroendocrine carcinoma of pancreas
MONDO:0005894 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:73260 paracoccidioidomycosis Paracoccidioidomycosis
MONDO:0005895 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658913 paragonimiasis Paragonimiasis
+MONDO:0005916 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662721 placenta accreta Placenta accreta spectrum disorder
MONDO:0005919 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:439167 placental insufficiency Placental insufficiency
MONDO:0005933 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64741 pulmonary blastoma Pulmonary blastoma
MONDO:0005942 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3096 Reye syndrome Reye syndrome
@@ -550,7 +552,6 @@ MONDO:0007489 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1822 d
MONDO:0007490 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2767 carpotarsal osteochondromatosis Carpotarsal osteochondromatosis
MONDO:0007492 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:256 early-onset generalized limb-onset dystonia Early-onset generalized limb-onset dystonia
MONDO:0007493 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98805 torsion dystonia 4 Primary dystonia, DYT4 type
-MONDO:0007495 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98808 dystonia 5 Autosomal dominant dopa-responsive dystonia
MONDO:0007496 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:71517 dystonia 12 Rapid-onset dystonia-parkinsonism
MONDO:0007504 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2405 thickened earlobes-conductive deafness syndrome Thickened earlobes-conductive deafness syndrome
MONDO:0007507 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1658 absence of fingerprints-congenital milia syndrome Absence of fingerprints-congenital milia syndrome
@@ -2073,6 +2074,7 @@ MONDO:0010501 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:466791
MONDO:0010503 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:570371 Bartter disease type 5 Bartter syndrome type 5
MONDO:0010505 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3041 intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-balding-patella luxation-acromicria syndrome
MONDO:0010507 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:521258 Xq25 microduplication syndrome Xq25 microduplication syndrome
+MONDO:0010512 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662198 intellectual disability, X-linked, syndromic, Bain type Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
MONDO:0010514 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:504530 combined immunodeficiency due to moesin deficiency Combined immunodeficiency due to Moesin deficiency
MONDO:0010518 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:906 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome
MONDO:0010519 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:847 alpha thalassemia-X-linked intellectual disability syndrome X-linked alpha-thalassemia-intellectual disability syndrome
@@ -3077,6 +3079,7 @@ MONDO:0013241 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:211017
MONDO:0013245 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228426 syndromic multisystem autoimmune disease due to ITCH deficiency Syndromic multisystem autoimmune disease due to Itch deficiency
MONDO:0013252 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:280558 Warsaw breakage syndrome Warsaw breakage syndrome
MONDO:0013256 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:94065 chromosome 15q24 deletion syndrome 15q24 microdeletion syndrome
+MONDO:0013266 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664410 intellectual disability, autosomal dominant 20 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
MONDO:0013267 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:261222 distal 16p11.2 microdeletion syndrome Distal 16p11.2 microdeletion syndrome
MONDO:0013268 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228390 frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-alopecia-genital anomalies syndrome
MONDO:0013271 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306542 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
@@ -3358,6 +3361,7 @@ MONDO:0014118 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:369852
MONDO:0014119 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363528 intellectual disability-strabismus syndrome Intellectual disability-strabismus syndrome
MONDO:0014121 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:363454 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
MONDO:0014127 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:370091 oculocutaneous albinism type 5 Oculocutaneous albinism type 5
+MONDO:0014128 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:672979 TCF12-related craniosynostosis Craniosynostosis-facial dysmorphism-brachydactyly syndrome
MONDO:0014131 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363523 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
MONDO:0014132 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363424 multiple mitochondrial dysfunctions syndrome 3 Multiple mitochondrial dysfunctions syndrome type 3
MONDO:0014139 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:536467 Ehlers-Danlos syndrome, spondylodysplastic type, 2 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
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MONDO:0014351 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:369920 pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia type 9
MONDO:0014353 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:443811 immunodeficiency 23 PGM3-CDG
+MONDO:0014355 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476096 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Erythrokeratodermia-cardiomyopathy syndrome
MONDO:0014358 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:412069 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
MONDO:0014361 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:352490 autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency
MONDO:0014369 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:420584 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
@@ -3539,6 +3544,7 @@ MONDO:0014568 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444099
MONDO:0014572 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:448251 Lichtenstein-Knorr syndrome Progressive autosomal recessive ataxia-deafness syndrome
MONDO:0014574 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444138 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
MONDO:0014576 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:401862 lipoyl transferase 1 deficiency Lipoyl transferase 1 deficiency
+MONDO:0014597 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:574918 immunodeficiency 39 Predisposition to severe viral infection due to IRF7 deficiency
MONDO:0014601 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:397709 autosomal recessive spinocerebellar ataxia 20 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
MONDO:0014602 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457279 Hogue-Janssens syndrome 1 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
MONDO:0014605 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457284 Houge-Janssens syndrome 2 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
@@ -3568,6 +3574,7 @@ MONDO:0014700 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or
MONDO:0014701 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:459051 spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, Stanescu type
MONDO:0014702 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:447760 autosomal recessive complex spastic paraplegia type 9B Autosomal recessive spastic paraplegia type 9B
MONDO:0014704 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477831 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Kosaki overgrowth syndrome
+MONDO:0014705 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:672985 craniosynostosis 6 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
MONDO:0014707 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:488280 14q32 duplication syndrome 14q32 duplication syndrome
MONDO:0014708 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1440 ring chromosome 14 Ring chromosome 14 syndrome
MONDO:0014710 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477857 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
@@ -3661,6 +3668,7 @@ MONDO:0014920 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:466718
MONDO:0014936 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:500150 ZTTK syndrome Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
MONDO:0014944 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:464288 short stature-brachydactyly-obesity-global developmental delay syndrome Short stature-brachydactyly-obesity-global developmental delay syndrome
MONDO:0014946 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:653712 Sifrim-Hitz-Weiss syndrome CHD4-related neurodevelopmental disorder
+MONDO:0014948 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659702 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
MONDO:0014952 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:468620 intellectual disability-epilepsy-extrapyramidal syndrome Intellectual disability-epilepsy-extrapyramidal syndrome
MONDO:0014953 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:542306 gnb5-related intellectual disability-cardiac arrhythmia syndrome GNB5-related intellectual disability-cardiac arrhythmia syndrome
MONDO:0014958 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:496790 Harel-Yoon syndrome Ocular anomalies-axonal neuropathy-developmental delay syndrome
@@ -6743,7 +6751,7 @@ MONDO:0018599 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440221
MONDO:0018600 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440233 congenital abducens nerve palsy Congenital abducens nerve palsy
MONDO:0018601 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440354 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
MONDO:0018602 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440368 necrotizing soft tissue infection Necrotizing soft tissue infection
-MONDO:0018603 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440392 interstitial lung disease due to SP-C deficiency Interstitial lung disease due to SP-C deficiency
+MONDO:0018603 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440392 SFTPC- related interstitial lung disease Interstitial lung disease due to SP-C deficiency
MONDO:0018604 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440437 familial colorectal cancer type X Familial colorectal cancer Type X
MONDO:0018605 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:440701 disorders of pentose/polyol metabolism Disorders of pentose/polyol metabolism
MONDO:0018606 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440724 extensive peripapillary myelinated nerve fibers Extensive peripapillary myelinated nerve fibers
@@ -6898,7 +6906,6 @@ MONDO:0018770 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:474 Je
MONDO:0018771 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:474347 obsolete congenital anomaly of ventricular septum Rare congenital anomaly of ventricular septum
MONDO:0018772 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:475 Joubert syndrome Joubert syndrome
MONDO:0018773 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476093 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
-MONDO:0018774 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476096 erythrokeratodermia-cardiomyopathy syndrome Erythrokeratodermia-cardiomyopathy syndrome
MONDO:0018775 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:476109 obsolete axonal hereditary motor and sensory neuropathy Axonal hereditary motor and sensory neuropathy
MONDO:0018776 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:476116 demyelinating hereditary motor and sensory neuropathy Demyelinating hereditary motor and sensory neuropathy
MONDO:0018777 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476119 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
@@ -8441,7 +8448,6 @@ MONDO:0022800 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha
MONDO:0022825 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:519384 congenital cystic eye Congenital cystic eye
MONDO:0022851 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2109 Dennis-Fairhurst-Moore syndrome Hallermann-Streiff-like syndrome
MONDO:0022986 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617916 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
-MONDO:0023122 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1331 familial prostate carcinoma Familial prostate cancer
MONDO:0023171 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2048 foix chavany Marie syndrome Foix-Chavany-Marie syndrome
MONDO:0023188 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:564003 Freiberg disease Osteochondrosis of the metatarsal bone
MONDO:0023201 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2058 Fryns Smeets Thiry syndrome Fryns-Smeets-Thiry syndrome
@@ -8455,6 +8461,7 @@ MONDO:0024149 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha
MONDO:0024237 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:183500 inherited neurodegenerative disorder Genetic neurodegenerative disease
MONDO:0024252 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:488613 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
MONDO:0024257 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:98505 hereditary motor neuron disease Genetic motor neuron disease
+MONDO:0024326 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675814 pleural adenomatoid tumor Adenomatoid tumour of the pleura
MONDO:0024336 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:494454 vulvar adenocarcinoma Vulvar adenocarcinoma
MONDO:0024457 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:35069 neurodegeneration with brain iron accumulation 2A Infantile neuroaxonal dystrophy
MONDO:0024471 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:496924 obsolete non-inflammatory vasculopathy Non-inflammatory vasculopathy
@@ -8468,8 +8475,11 @@ MONDO:0024551 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:538931
MONDO:0024557 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251347 ataxia-telangiectasia-like disorder 1 Ataxia-telangiectasia-like disorder
MONDO:0024559 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:229 aortic aneurysm, familial thoracic 1 Familial aortic dissection
MONDO:0024568 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:370088 infantile liver failure syndrome 1 Acute infantile liver failure-multisystemic involvement syndrome
+MONDO:0024607 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662184 congenital muscular dystrophy with cataracts and intellectual disability Congenital muscular dystrophy-cataract-intellectual disability syndrome
MONDO:0024609 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:494448 vulvar squamous cell carcinoma Vulvar squamous cell carcinoma
MONDO:0024686 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:66627 tenosynovial giant cell tumor, diffuse type Tenosynovial giant cell tumor
+MONDO:0024770 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:676125 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
+MONDO:0024777 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675628 immunodeficiency 98 with autoinflammation, X-linked TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
MONDO:0024781 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:653751 immunodeficiency 102 X-linked combined immunodeficiency due to SASH3 deficiency
MONDO:0024987 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:156622 obsolete genetic urogenital tract malformation Genetic urogenital tract malformation
MONDO:0025193 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98897 oculopharyngodistal myopathy Oculopharyngodistal myopathy
@@ -8532,6 +8542,7 @@ MONDO:0030105 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:570422
MONDO:0030258 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:613274 pontocerebellar hypoplasia, type 14 Pontocerebellar hypoplasia type 14
MONDO:0030482 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631079 spastic paraplegia 84, autosomal recessive Autosomal recessive spastic paraplegia type 84
MONDO:0030512 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631082 spastic paraplegia 85, autosomal recessive Autosomal recessive spastic paraplegia type 85
+MONDO:0030524 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662216 mucopolysaccharidosis, type 10 Mucopolysaccharidosis type 10
MONDO:0030673 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631085 spastic paraplegia 86, autosomal recessive Autosomal recessive spastic paraplegia type 86
MONDO:0030767 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:322126 obsolete genetic tumor of hematopoietic and lymphoid tissues Genetic tumor of hematopoietic and lymphoid tissues
MONDO:0030805 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631106 spinocerebellar ataxia 49 Spinocerebellar ataxia type 49
@@ -8585,14 +8596,20 @@ MONDO:0032726 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:565624
MONDO:0032737 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631068 spastic paraplegia 80, autosomal dominant Autosomal dominant spastic paraplegia type 80
MONDO:0032814 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477749 microangiopathy and leukoencephalopathy, pontine, autosomal dominant Pontine autosomal dominant microangiopathy with leukoencephalopathy
MONDO:0032819 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99832 hypothyroidism, congenital, nongoitrous, 7 Resistance to thyrotropin-releasing hormone syndrome
+MONDO:0032820 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659609 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
MONDO:0032830 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:656135 snijders blok-fisher syndrome Intellectual disability-cupped ears syndrome
MONDO:0032831 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:613267 pontocerebellar hypoplasia, type 13 Pontocerebellar hypoplasia type 13
+MONDO:0032838 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664923 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
MONDO:0032882 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658595 Heyn-Sproul-Jackson syndrome DNMT3A-related microcephalic dwarfism
MONDO:0032886 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664438 Liang-Wang syndrome Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
+MONDO:0032899 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675767 neutropenia, severe congenital, 8, autosomal dominant Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
MONDO:0032906 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631073 spastic paraplegia 82, autosomal recessive Autosomal recessive spastic paraplegia type 82
MONDO:0032916 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659463 Imagawa-Matsumoto syndrome Imagawa-Matsumoto syndrome
+MONDO:0032928 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:676039 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant Combined immunodeficiency due to FOXN1 haploinsufficiency
MONDO:0032931 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:615954 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
MONDO:0032933 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:656279 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant 1p36.33 duplication syndrome
+MONDO:0032942 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662179 neurodevelopmental disorder with microcephaly and dysmorphic facies Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
+MONDO:0032943 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662175 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
MONDO:0033043 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:527497 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
MONDO:0033056 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:414726 obsolete genetic facial cleft Genetic facial cleft
MONDO:0033135 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476394 Charcot-Marie-Tooth disease, demyelinating, type 1G PMP2-related Charcot-Marie-Tooth disease type 1
@@ -8808,7 +8825,6 @@ MONDO:0035534 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:572761
MONDO:0035540 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:573163 pheochromocytoma-paraganglioma Pheochromocytoma-paraganglioma
MONDO:0035541 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:573253 obsolete split cord malformation type II Split cord malformation type II
MONDO:0035542 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:573278 obsolete split cord malformation Split cord malformation
-MONDO:0035547 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:574918 predisposition to severe viral infection due to IRF7 deficiency Predisposition to severe viral infection due to IRF7 deficiency
MONDO:0035548 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:574957 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
MONDO:0035551 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:575553 cathepsin a-related arteriopathy-strokes-leukoencephalopathy Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
MONDO:0035554 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:576227 obsolete complete atrioventricular septal defect without ventricular hypoplasia Complete atrioventricular septal defect without ventricular hypoplasia
@@ -9041,6 +9057,7 @@ MONDO:0060627 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:529665
MONDO:0060631 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:610569 Alkuraya-Kucinskas syndrome KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
MONDO:0060707 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:580940 Ververi-Brady syndrome QRICH1-related intellectual disability-chondrodysplasia syndrome
MONDO:0060759 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:597623 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
+MONDO:0060763 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662829 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
MONDO:0100038 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:528084 complex neurodevelopmental disorder Non-specific syndromic intellectual disability
MONDO:0100062 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1934 developmental and epileptic encephalopathy Early infantile epileptic encephalopathy
MONDO:0100101 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:994 fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence
@@ -9093,6 +9110,7 @@ MONDO:0600030 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or
MONDO:0700088 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98810 paroxysmal nonkinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia
MONDO:0700220 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306644 disease related to transplantation Complication after organ transplantation
MONDO:0700264 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477647 type 1 interferonopathy Type 1 interferonopathy
+MONDO:0700275 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1331 prostate cancer, hereditary Familial prostate cancer
MONDO:0800025 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1519 Teebi hypertelorism syndrome 1 SPECC1L-related hypertelorism syndrome
MONDO:0800026 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:661 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Congenital central hypoventilation syndrome
MONDO:0800027 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313808 leukoencephalopathy, diffuse hereditary, with spheroids 1 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
@@ -9101,6 +9119,7 @@ MONDO:0800029 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2032 i
MONDO:0800030 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436252 gastrointestinal defects and immunodeficiency syndrome 1 Combined immunodeficiency-enteropathy spectrum
MONDO:0800043 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3206 Stüve-Wiedemann syndrome 1 Stüve-Wiedemann syndrome
MONDO:0800044 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:404454 congenital disorder of deglycosylation 1 Alacrimia-choreoathetosis-liver dysfunction syndrome
+MONDO:0800045 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674762 autoinflammatory syndrome, familial, Behcet-like 1 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
MONDO:0800046 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:171706 thyroid hormone metabolism, abnormal 1 Short stature-delayed bone age due to thyroid hormone metabolism deficiency
MONDO:0800084 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93444 obsolete primary bone dysplasia with increased bone density Primary bone dysplasia with increased bone density
MONDO:0800085 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement Dysostosis with predominant craniofacial involvement
@@ -9197,8 +9216,14 @@ MONDO:0859139 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:637013
MONDO:0859143 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662234 Radio-Tartaglia syndrome Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
MONDO:0859147 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659873 Marbach-Rustad progeroid syndrome Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
MONDO:0859200 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:641361 cerebellar ataxia, brain abnormalities, and cardiac conduction defects Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
+MONDO:0859206 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659975 neurodevelopmental disorder with hearing loss and spasticity Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
MONDO:0859219 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:659642 Rauch-Steindl syndrome Rauch-Steindl syndrome
+MONDO:0859257 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:660017 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
+MONDO:0859267 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:661526 tumor predisposition syndrome 2 MBD4-related tumor predisposition syndrome
+MONDO:0859297 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662189 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
MONDO:0859301 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662207 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
+MONDO:0859324 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662762 developmental delay, language impairment, and ocular abnormalities Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
+MONDO:0859340 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675216 spinocerebellar ataxia 27B, late-onset Spinocerebellar ataxia type 27B
MONDO:0859692 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:623638 immune-mediated cerebellar ataxia Immune-mediated cerebellar ataxia
MONDO:0859761 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
MONDO:0859762 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
@@ -9308,6 +9333,7 @@ MONDO:0958270 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha
MONDO:0958273 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:652514 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
MONDO:0958274 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:656085 benign atrophic papulosis Benign atrophic papulosis
MONDO:0958275 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:656126 segmental spinal dysgenesis Segmental spinal dysgenesis
+MONDO:0958278 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664430 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
MONDO:0958342 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:637064 isolated optic nerve aplasia Isolated optic nerve aplasia
MONDO:0958343 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:641380 PAPASH syndrome PAPASH syndrome
MONDO:0958344 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645188 spinal dermal sinus Spinal dermal sinus
@@ -9340,6 +9366,52 @@ MONDO:0970961 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or
MONDO:0970962 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645337 terminal myelocystocele Terminal myelocystocele
MONDO:0970963 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645354 saccular limited dorsal myeloschisis Saccular limited dorsal myeloschisis
MONDO:0970964 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645378 myelic limited dorsal malformation Myelic limited dorsal malformation
+MONDO:0971007 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659904 neuroocular syndrome 1 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
+MONDO:0971047 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:659387 PRC-2 complex-related overgrowth spectrum PRC-2 complex-related overgrowth spectrum
+MONDO:0971049 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:659626 single isolated optic neuritis Single isolated optic neuritis
+MONDO:0971050 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:659634 relapsing isolated optic neuritis Relapsing isolated optic neuritis
+MONDO:0971056 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659744 ocular surface squamous neoplasia Ocular surface squamous neoplasia
+MONDO:0971058 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:659759 verruga peruana Verruga peruana
+MONDO:0971062 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:660012 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
+MONDO:0971063 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98808 autosomal dominant dopa-responsive dystonia Autosomal dominant dopa-responsive dystonia
+MONDO:0971064 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:660021 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
+MONDO:0971066 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:661412 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
+MONDO:0971068 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion Phelan-McDermid syndrome due to 22q13.3 deletion
+MONDO:0971069 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation Phelan-McDermid syndrome due to SHANK3 mutation
+MONDO:0971077 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662229 episodic memory defect leukoencephalopathy Episodic memory defect leukoencephalopathy
+MONDO:0971080 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662255 Grisel syndrome Grisel syndrome
+MONDO:0971091 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:662934 acute megakaryoblastic leukemia in adult Acute megakaryoblastic leukemia in adult
+MONDO:0971092 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664372 soft and hard cleft palate Soft and hard cleft palate
+MONDO:0971093 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664377 MGP-related spondyloepiphyseal dysplasia MGP-related spondyloepiphyseal dysplasia
+MONDO:0971094 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:664401 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
+MONDO:0971095 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:664404 6q25.1 microdeletion syndrome 6q25.1 microdeletion syndrome
+MONDO:0971103 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664787 Nicolau syndrome Nicolau syndrome
+MONDO:0971105 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664912 neonatal renal venous thrombosis Neonatal renal venous thrombosis
+MONDO:0971107 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:665044 common arterial trunk with aortic dominance Common arterial trunk with aortic dominance
+MONDO:0971108 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:665058 common arterial trunk with pulmonary dominance and interrupted aortic arch Common arterial trunk with pulmonary dominance and interrupted aortic arch
+MONDO:0971111 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:667678 intraoral basal cell carcinoma Intraoral basal cell carcinoma
+MONDO:0971115 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:673470 benign vascular tumor Benign vascular tumor
+MONDO:0971116 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:673473 borderline vascular tumor Borderline vascular tumor
+MONDO:0971118 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:673585 pilocytic astrocytoma with histological features of anaplasia Pilocytic astrocytoma with histological features of anaplasia
+MONDO:0971119 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:674499 proteoglycan-related bone disorder Proteoglycan-related bone disorder
+MONDO:0971123 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674924 isolated retinal racemose hemangioma Isolated retinal racemose hemangioma
+MONDO:0971124 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674930 perifoveal exudative vascular anomalous complex Perifoveal exudative vascular anomalous complex
+MONDO:0971125 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674935 torpedo maculopathy Torpedo Maculopathy
+MONDO:0971126 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674943 isolated angioid streaks Isolated angioid streaks
+MONDO:0971127 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674947 diffuse unilateral subacute neuroretinitis Diffuse unilateral subacute neuroretinitis
+MONDO:0971128 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674953 multiple evanescent white dot syndrome Multiple evanescent white dot syndrome
+MONDO:0971129 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674958 stellate multiform amelanotic choroidopathy Stellate multiform amelanotic choroidopathy
+MONDO:0971130 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674965 choroidal osteoma Choroidal osteoma
+MONDO:0971131 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674968 bilateral diffuse uveal melanocytic proliferation disease Bilateral diffuse uveal melanocytic proliferation disease
+MONDO:0971133 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675380 isolated segmental infantile hemangioma Isolated segmental infantile hemangioma
+MONDO:0971137 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675775 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
+MONDO:0971138 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675782 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
+MONDO:0971140 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675822 well-differentiated papillary mesothelial tumour of the pleura Well-differentiated papillary mesothelial tumour of the pleura
+MONDO:0971141 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:675833 localized pleural mesothelioma Localized pleural mesothelioma
+MONDO:0971142 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:675837 diffused pleural mesothelioma Diffused pleural mesothelioma
+MONDO:0971143 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:675841 pleural mesothelioma in situ Pleural mesothelioma in situ
+MONDO:0971145 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:676036 peritoneal mesothelioma in situ Peritoneal mesothelioma in situ
+MONDO:0971154 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:659698 hepatic cutaneous porphyria Hepatic cutaneous porphyria
MONDO:1040032 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:611223 EN1-related dorsoventral syndrome EN1-related dorsoventral syndrome
MONDO:1040033 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:370980 congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy without intellectual disability
MONDO:8000006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:51636 WHIM syndrome 1 WHIM syndrome
diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl
index fd76b8aa8..7dd63e2ae 100644
--- a/src/ontology/imports/omo_import.owl
+++ b/src/ontology/imports/omo_import.owl
@@ -7,9 +7,9 @@ Prefix(rdfs:=)
Ontology(
-
+
Annotation( )
-Annotation(owl:versionInfo "2024-08-13")
+Annotation(owl:versionInfo "2024-09-06")
Declaration(Class())
Declaration(Class())
diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl
index c1bf9f57c..4fb095fa9 100644
--- a/src/ontology/imports/ro_import.owl
+++ b/src/ontology/imports/ro_import.owl
@@ -7,9 +7,9 @@ Prefix(rdfs:=)
Ontology(
-
+
Annotation( )
-Annotation(owl:versionInfo "2024-08-13")
+Annotation(owl:versionInfo "2024-09-06")
Declaration(Class())
Declaration(Class())
diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md
index 7268fbc60..a61958abf 100644
--- a/src/ontology/lexmatch/README.md
+++ b/src/ontology/lexmatch/README.md
@@ -4,53 +4,52 @@
* split-mapping-set: Unmapped mappings broken down by predicate_id
## Summary of mappings:
* Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 50
- * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 36
+ * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 18
* Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 33
* Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 33
- * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 2375
- * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1973
+ * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 2376
+ * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1974
* Number of mappings in [`unmapped_icd10cm_mondo`](mondo-only/unmapped_icd10cm_mondo.tsv): 3
* Number of mappings in [`unmapped_icd10cm_mondo_exact`](mondo-only/unmapped_icd10cm_mondo.tsv): 3
- * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1651
- * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 909
+ * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1649
+ * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 907
* Number of mappings in [`unmapped_icd10who_mondo`](mondo-only/unmapped_icd10who_mondo.tsv): 2
* Number of mappings in [`unmapped_icd10who_mondo_exact`](mondo-only/unmapped_icd10who_mondo.tsv): 2
- * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 5837
- * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 5837
+ * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 5833
+ * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 5826
* Number of mappings in [`unmapped_icd11foundation_mondo`](mondo-only/unmapped_icd11foundation_mondo.tsv): 42
* Number of mappings in [`unmapped_icd11foundation_mondo_exact`](mondo-only/unmapped_icd11foundation_mondo.tsv): 42
- * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 114
+ * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 116
* Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 46
* Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 15
* Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 15
* Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 1
* Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 1
- * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 118
- * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 118
- * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 3
- * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 3
- * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 868
- * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 868
+ * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 116
+ * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 116
+ * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 1
+ * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 1
+ * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 867
+ * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 867
## mondo_XXXXmatch_ontology
- * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 461
- * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2376
- * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6229
- * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 112
- * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 869
- * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 114
- * Number of mappings in [`mondo_broadmatch_orphanet`](split-mapping-set/mondo_broadmatch_orphanet.tsv): 2
- * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 127
+ * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 4
+ * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 111
+ * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 20
+ * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 866
* Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75
+ * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 129
* Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 11
+ * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328
+ * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221
+ * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1649
+ * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 60
+ * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6224
+ * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 462
+ * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2377
+ * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 112
+ * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 238
* Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 2
* Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 81
- * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 268
- * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 4
- * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6083
* Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1706
+ * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6079
* Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163
- * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221
- * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1651
- * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328
- * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 60
- * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 113
diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv
index f2e1f5711..770002592 100644
--- a/src/ontology/lexmatch/all_exact.robot.tsv
+++ b/src/ontology/lexmatch/all_exact.robot.tsv
@@ -402,6 +402,13 @@ MONDO:0850301 MONDO:equivalentTo ICD10CM:L12 pemphigoid Pemphigoid semapv:Lexica
MONDO:0859565 MONDO:equivalentTo ICD10CM:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect
MONDO:0956980 MONDO:equivalentTo ICD10CM:G21.4 vascular parkinsonism Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism
MONDO:0958083 MONDO:equivalentTo ICD10CM:Q89.4 conjoined twins Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins
+MONDO:0971058 MONDO:equivalentTo icd11.foundation:1480386521 verruga peruana Verruga peruana semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verruga peruana
+MONDO:0971063 MONDO:equivalentTo icd11.foundation:1143673207 autosomal dominant dopa-responsive dystonia Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant dopa-responsive dystonia
+MONDO:0971107 MONDO:equivalentTo icd11.foundation:551770382 common arterial trunk with aortic dominance Common arterial trunk with aortic dominance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with aortic dominance
+MONDO:0971108 MONDO:equivalentTo icd11.foundation:97579611 common arterial trunk with pulmonary dominance and interrupted aortic arch Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch
+MONDO:0971127 MONDO:equivalentTo icd11.foundation:1362820694 diffuse unilateral subacute neuroretinitis Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis
+MONDO:0971128 MONDO:equivalentTo icd11.foundation:1817745681 multiple evanescent white dot syndrome Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome
+MONDO:1050000 MONDO:equivalentTo icd11.foundation:1245506993 sycosis barbae Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae
MONDO:0003222 MONDO:equivalentTo NCIT:C4661 central nervous system melanocytic neoplasm Central Nervous System Melanocytic Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system melanocytic neoplasm
MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma
MONDO:0015301 MONDO:equivalentTo NCIT:C199391 primary cutaneous amyloidosis Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis
@@ -469,21 +476,41 @@ MONDO:0958300 MONDO:equivalentTo NCIT:C178461 round cell sarcoma with EWSR1-PATZ
MONDO:0958301 MONDO:equivalentTo NCIT:C178462 round cell sarcoma with FUS-NFATC2 gene fusion Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion
MONDO:0958302 MONDO:equivalentTo NCIT:C37210 TFEB-rearranged renal cell carcinoma TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma
MONDO:0958303 MONDO:equivalentTo NCIT:C189242 childhood renal cell carcinoma with MiT translocations Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations
+MONDO:0971056 MONDO:equivalentTo NCIT:C176043 ocular surface squamous neoplasia Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia
+MONDO:0971143 MONDO:equivalentTo NCIT:C183134 pleural mesothelioma in situ Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ
MONDO:1040026 MONDO:equivalentTo NCIT:C3813 metastatic malignant neoplasm in the brain Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain
MONDO:0005641 MONDO:equivalentTo DOID:2934 aleutian mink disease aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder
MONDO:0005676 MONDO:equivalentTo DOID:5154 borna disease borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder
MONDO:0007744 MONDO:equivalentTo DOID:0111368 cholesterol-ester transfer protein deficiency cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency
-MONDO:0008265 MONDO:equivalentTo DOID:0060980 polycystic liver disease 1 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:174050
-MONDO:0011731 MONDO:equivalentTo DOID:0070563 glucose-galactose malabsorption glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c562602
-MONDO:0011731 MONDO:equivalentTo DOID:0070563 glucose-galactose malabsorption glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:606824
-MONDO:0014860 MONDO:equivalentTo DOID:0060975 polycystic liver disease 2 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617004
-MONDO:0020748 MONDO:equivalentTo DOID:0060983 sitosterolemia 2 sitosterolemia 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618666
-MONDO:0030374 MONDO:equivalentTo DOID:0060973 WHIM syndrome 2 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619407
-MONDO:0044327 MONDO:equivalentTo DOID:0060977 polycystic liver disease 4 with or without kidney cysts polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617875
-MONDO:0054743 MONDO:equivalentTo DOID:0060976 polycystic liver disease 3 with or without kidney cysts polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617874
-MONDO:0800029 MONDO:equivalentTo DOID:0060971 interstitial lung disease 2 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:178500
-MONDO:0859329 MONDO:equivalentTo DOID:0060981 mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620153
-MONDO:0859346 MONDO:equivalentTo DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620189
+MONDO:0030716 MONDO:equivalentTo DOID:0070565 spermatogenic failure 66 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619799
+MONDO:0030718 MONDO:equivalentTo DOID:0070566 spermatogenic failure 67 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619803
+MONDO:0030721 MONDO:equivalentTo DOID:0070567 spermatogenic failure 68 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619805
+MONDO:0030732 MONDO:equivalentTo DOID:0070568 spermatogenic failure 69 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619826
+MONDO:0030733 MONDO:equivalentTo DOID:0070569 spermatogenic failure 70 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619828
+MONDO:0030787 MONDO:equivalentTo DOID:0070570 spermatogenic failure 71 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619831
+MONDO:0030809 MONDO:equivalentTo DOID:0070571 spermatogenic failure 72 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619867
+MONDO:0030818 MONDO:equivalentTo DOID:0070572 spermatogenic failure 73 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619878
+MONDO:0030972 MONDO:equivalentTo DOID:0070573 spermatogenic failure 74 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619937
+MONDO:0030984 MONDO:equivalentTo DOID:0070574 spermatogenic failure 75 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619949
+MONDO:0031077 MONDO:equivalentTo DOID:0070575 spermatogenic failure 76 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620084
+MONDO:0031083 MONDO:equivalentTo DOID:0070576 spermatogenic failure 77 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620103
+MONDO:0859338 MONDO:equivalentTo DOID:0070577 spermatogenic failure 78 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620170
+MONDO:0859352 MONDO:equivalentTo DOID:0070578 spermatogenic failure 79 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620196
+MONDO:0859364 MONDO:equivalentTo DOID:0070579 spermatogenic failure 80 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620222
+MONDO:0859522 MONDO:equivalentTo DOID:0070580 spermatogenic failure 81 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620277
+MONDO:0957249 MONDO:equivalentTo DOID:0070581 spermatogenic failure 82 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620353
+MONDO:0957250 MONDO:equivalentTo DOID:0070582 spermatogenic failure 83 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620354
+MONDO:0957301 MONDO:equivalentTo DOID:0070583 spermatogenic failure 84 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620409
+MONDO:0957584 MONDO:equivalentTo DOID:0070584 spermatogenic failure 85 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620490
+MONDO:0957593 MONDO:equivalentTo DOID:0070585 spermatogenic failure 86 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620499
+MONDO:0957594 MONDO:equivalentTo DOID:0070586 spermatogenic failure 87 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620500
+MONDO:0957821 MONDO:equivalentTo DOID:0070587 spermatogenic failure 88 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620547
+MONDO:0958206 MONDO:equivalentTo DOID:0070588 spermatogenic failure 89 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620705
+MONDO:0958242 MONDO:equivalentTo DOID:0070589 spermatogenic failure 90 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620744
+MONDO:0970952 MONDO:equivalentTo DOID:0070590 spermatogenic failure 91 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620838
+MONDO:0970999 MONDO:equivalentTo DOID:0070591 spermatogenic failure 92 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620848
+MONDO:0971000 MONDO:equivalentTo DOID:0070592 spermatogenic failure 93 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620849
+MONDO:0971002 MONDO:equivalentTo DOID:0070593 spermatogenic failure 94 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620850
MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty
MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata
MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis
diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv
index 1408168c6..24fe46593 100644
--- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv
+++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv
@@ -22,7 +22,6 @@ MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis OMIM:16
MONDO:0008415 obsolete Scholte syndrome OMIM:181515 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5
MONDO:0008548 obsolete theophylline Biotransformation OMIM:187650 MONDO:equivalentTo theophylline biotransformation semapv:UnspecifiedMatching 0.5
MONDO:0008625 obsolete urate-binding globulin, decrease 1N OMIM:191530 MONDO:equivalentTo urate-binding globulin, decrease 1n semapv:UnspecifiedMatching 0.5
-MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type OMIM:244850 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5
MONDO:0009535 obsolete lymphedema, congenital recessive OMIM:247440 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5
MONDO:0009553 obsolete Plasmodium falciparum blood infection level OMIM:248310 MONDO:equivalentTo plasmodium falciparum blood infection level semapv:UnspecifiedMatching 0.5
MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5
@@ -43,7 +42,6 @@ MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:Uns
MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5
MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 OMIM:605429 MONDO:equivalentTo deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching 0.5
MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching 0.5
-MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 OMIM:607683 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5
MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C OMIM:607801 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5
MONDO:0012140 obsolete pulmonary function OMIM:608852 MONDO:equivalentTo pulmonary function semapv:UnspecifiedMatching 0.5
MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related OMIM:608902 MONDO:equivalentTo drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching 0.5
diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv
index 059b428e8..587a8b1df 100644
--- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv
+++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv
@@ -823,7 +823,6 @@ MONDO:0035013 obsolete genetic primary orthostatic disorder Orphanet:521232 MOND
MONDO:0035014 obsolete primary orthostatic disorder Orphanet:521236 MONDO:equivalentTo Primary orthostatic disorder semapv:UnspecifiedMatching 0.5
MONDO:0035037 obsolete rare genetic disorder of the visual organs Orphanet:522504 MONDO:equivalentTo Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5
MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin Orphanet:522580 MONDO:equivalentTo Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5
-MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome Orphanet:530313 MONDO:equivalentTo PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching 0.5
MONDO:0035274 obsolete anomaly of the coronary ostia Orphanet:542822 MONDO:equivalentTo Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5
MONDO:0035328 obsolete rare disorder due to poisoning Orphanet:556508 MONDO:equivalentTo Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5
MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation Orphanet:565779 MONDO:equivalentTo Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv
deleted file mode 100644
index 08c0b0fcd..000000000
--- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv
+++ /dev/null
@@ -1,3 +0,0 @@
-subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0006173 conjunctival squamous cell carcinoma skos:broadMatch Orphanet:659744 Ocular surface squamous neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym ocular surface squamous neoplasia LEXMATCH
-MONDO:0006173 conjunctival squamous cell carcinoma skos:broadMatch Orphanet:659744 Ocular surface squamous neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label ocular surface squamous neoplasia LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv
index afeba413d..3eee73b4b 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv
@@ -1,12 +1,4 @@
subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:606777 LEXMATCH
-MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:606777 LEXMATCH
-MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:606777 LEXMATCH
-MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:606777 LEXMATCH
-MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:606777 LEXMATCH
-MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005198 LEXMATCH
-MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d005198 LEXMATCH
-MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d005198 LEXMATCH
MONDO:0001516 spinal muscular atrophy skos:closeMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:7674 LEXMATCH
MONDO:0004037 retinal edema skos:closeMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010211 LEXMATCH
MONDO:0005641 aleutian mink disease skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH
@@ -30,37 +22,8 @@ MONDO:0006879 optic papillitis skos:closeMatch DOID:146 papilledema semapv:Lexic
MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 LEXMATCH
MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101800 LEXMATCH
MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:101800 LEXMATCH
-MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 LEXMATCH
-MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:144200 LEXMATCH
-MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144200 LEXMATCH
-MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:144200 LEXMATCH
-MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:144200 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:3098 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536157 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148730 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:3098 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c536157 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:148730 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal palmoplantar and gingival hyperkeratosis syndrome LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536157 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148730 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:148730 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:148730 LEXMATCH
MONDO:0008227 peripheral dysostosis skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:2015 LEXMATCH
-MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 LEXMATCH
-MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:174050 LEXMATCH
-MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174050 LEXMATCH
-MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:174050 LEXMATCH
-MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:174050 LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:2268 LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227810 LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:2268 LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:227810 LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder xi LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis, fanconi type LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227810 LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:227810 LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:227810 LEXMATCH
+MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasExactSynonym oio:hasRelatedSynonym dysequilibrium syndrome LEXMATCH
MONDO:0009727 atelosteogenesis type II skos:closeMatch DOID:14687 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q77.5 LEXMATCH
MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:4552 LEXMATCH
MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 LEXMATCH
@@ -71,198 +34,205 @@ MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeM
MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 LEXMATCH
MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276950 LEXMATCH
MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:276950 LEXMATCH
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5186 LEXMATCH
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 LEXMATCH
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:5186 LEXMATCH
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:600962 LEXMATCH
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600962 LEXMATCH
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:600962 LEXMATCH
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:600962 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536830 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c536830 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transporter type 1 deficiency syndrome LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucose transporter type 1 deficiency syndrome LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536830 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9265 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606777 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:9265 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:606777 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606777 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606777 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:606777 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:6521 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562602 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606824 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:6521 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c562602 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:606824 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosaccharide malabsorption LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c562602 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606824 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606824 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:606824 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567656 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610185 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c567656 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610185 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 2 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567656 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610185 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610185 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610185 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566472 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610475 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c566472 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610475 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566472 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610475 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610475 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610475 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566469 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610489 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c566469 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610489 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566469 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610489 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610489 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610489 LEXMATCH
-MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder xi LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567690 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613227 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c567690 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:613227 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567690 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613227 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613227 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:613227 LEXMATCH
-MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614190 LEXMATCH
-MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614190 LEXMATCH
-MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614190 LEXMATCH
-MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614190 LEXMATCH
-MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614190 LEXMATCH
MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 LEXMATCH
MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614613 LEXMATCH
MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614613 LEXMATCH
-MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615268 LEXMATCH
-MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615268 LEXMATCH
-MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 4 LEXMATCH
-MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615268 LEXMATCH
-MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615268 LEXMATCH
-MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615268 LEXMATCH
-MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615598 LEXMATCH
-MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615598 LEXMATCH
-MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615598 LEXMATCH
-MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615598 LEXMATCH
-MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615598 LEXMATCH
-MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615830 LEXMATCH
-MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615830 LEXMATCH
-MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13 duplication syndrome LEXMATCH
-MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615830 LEXMATCH
-MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615830 LEXMATCH
-MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615830 LEXMATCH
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616099 LEXMATCH
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616099 LEXMATCH
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and woolly hair LEXMATCH
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and woolly hair LEXMATCH
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616099 LEXMATCH
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616099 LEXMATCH
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616099 LEXMATCH
-MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 LEXMATCH
-MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617004 LEXMATCH
-MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic liver disorder type 2 with or without kidney cysts LEXMATCH
-MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617004 LEXMATCH
-MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617004 LEXMATCH
-MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617004 LEXMATCH
MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 LEXMATCH
MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d005693 LEXMATCH
MONDO:0018638 pseudohypoaldosteronism skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 LEXMATCH
MONDO:0018638 pseudohypoaldosteronism skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d011546 LEXMATCH
MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 LEXMATCH
MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d004476 LEXMATCH
-MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618666 LEXMATCH
-MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618666 LEXMATCH
-MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618666 LEXMATCH
-MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618666 LEXMATCH
-MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618666 LEXMATCH
MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180860 LEXMATCH
MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:180860 LEXMATCH
MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180860 LEXMATCH
MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:180860 LEXMATCH
MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:180860 LEXMATCH
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224050 LEXMATCH
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:224050 LEXMATCH
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 1 LEXMATCH
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 LEXMATCH
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia, vldlr-associated LEXMATCH
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224050 LEXMATCH
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:224050 LEXMATCH
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:224050 LEXMATCH
-MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619407 LEXMATCH
-MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619407 LEXMATCH
-MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619407 LEXMATCH
-MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619407 LEXMATCH
-MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619407 LEXMATCH
-MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618529 LEXMATCH
-MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618529 LEXMATCH
-MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618529 LEXMATCH
-MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618529 LEXMATCH
-MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618529 LEXMATCH
-MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617784 LEXMATCH
-MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617784 LEXMATCH
-MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617784 LEXMATCH
-MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617784 LEXMATCH
-MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617784 LEXMATCH
-MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617875 LEXMATCH
-MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617875 LEXMATCH
-MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617875 LEXMATCH
-MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617875 LEXMATCH
-MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617875 LEXMATCH
-MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617874 LEXMATCH
-MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617874 LEXMATCH
-MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617874 LEXMATCH
-MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617874 LEXMATCH
-MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617874 LEXMATCH
-MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617883 LEXMATCH
-MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617883 LEXMATCH
-MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617883 LEXMATCH
-MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617883 LEXMATCH
-MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617883 LEXMATCH
-MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 LEXMATCH
-MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:178500 LEXMATCH
-MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178500 LEXMATCH
-MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:178500 LEXMATCH
-MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:178500 LEXMATCH
+MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym dysequilibrium syndrome LEXMATCH
+MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301077 LEXMATCH
+MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301077 LEXMATCH
+MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301077 LEXMATCH
+MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301077 LEXMATCH
+MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301077 LEXMATCH
+MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619799 LEXMATCH
+MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619799 LEXMATCH
+MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619799 LEXMATCH
+MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619799 LEXMATCH
+MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619799 LEXMATCH
+MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619803 LEXMATCH
+MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619803 LEXMATCH
+MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619803 LEXMATCH
+MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619803 LEXMATCH
+MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619803 LEXMATCH
+MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619805 LEXMATCH
+MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619805 LEXMATCH
+MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619805 LEXMATCH
+MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619805 LEXMATCH
+MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619805 LEXMATCH
+MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619826 LEXMATCH
+MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619826 LEXMATCH
+MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619826 LEXMATCH
+MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619826 LEXMATCH
+MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619826 LEXMATCH
+MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619828 LEXMATCH
+MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619828 LEXMATCH
+MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619828 LEXMATCH
+MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619828 LEXMATCH
+MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619828 LEXMATCH
+MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619831 LEXMATCH
+MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619831 LEXMATCH
+MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619831 LEXMATCH
+MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619831 LEXMATCH
+MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619831 LEXMATCH
+MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619867 LEXMATCH
+MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619867 LEXMATCH
+MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619867 LEXMATCH
+MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619867 LEXMATCH
+MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619867 LEXMATCH
+MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619878 LEXMATCH
+MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619878 LEXMATCH
+MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619878 LEXMATCH
+MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619878 LEXMATCH
+MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619878 LEXMATCH
+MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619937 LEXMATCH
+MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619937 LEXMATCH
+MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619937 LEXMATCH
+MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619937 LEXMATCH
+MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619937 LEXMATCH
+MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619949 LEXMATCH
+MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619949 LEXMATCH
+MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619949 LEXMATCH
+MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619949 LEXMATCH
+MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619949 LEXMATCH
+MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620084 LEXMATCH
+MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620084 LEXMATCH
+MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620084 LEXMATCH
+MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620084 LEXMATCH
+MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620084 LEXMATCH
+MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620103 LEXMATCH
+MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620103 LEXMATCH
+MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620103 LEXMATCH
+MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620103 LEXMATCH
+MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620103 LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8609 LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:j84.112 LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref icd10cm:j84.112 LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d054990 LEXMATCH
MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 LEXMATCH
MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:243150 LEXMATCH
MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243150 LEXMATCH
MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:243150 LEXMATCH
MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:243150 LEXMATCH
-MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620152 LEXMATCH
-MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620152 LEXMATCH
-MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620152 LEXMATCH
-MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620152 LEXMATCH
-MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620152 LEXMATCH
-MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620153 LEXMATCH
-MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620153 LEXMATCH
-MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620153 LEXMATCH
-MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620153 LEXMATCH
-MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620153 LEXMATCH
-MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620189 LEXMATCH
-MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620189 LEXMATCH
-MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620189 LEXMATCH
-MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620189 LEXMATCH
-MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620189 LEXMATCH
-MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620411 LEXMATCH
-MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620411 LEXMATCH
-MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620411 LEXMATCH
-MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620411 LEXMATCH
-MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620411 LEXMATCH
+MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620170 LEXMATCH
+MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620170 LEXMATCH
+MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620170 LEXMATCH
+MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620170 LEXMATCH
+MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620170 LEXMATCH
+MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620196 LEXMATCH
+MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620196 LEXMATCH
+MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620196 LEXMATCH
+MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620196 LEXMATCH
+MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620196 LEXMATCH
+MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620222 LEXMATCH
+MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620222 LEXMATCH
+MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620222 LEXMATCH
+MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620222 LEXMATCH
+MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620222 LEXMATCH
+MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301099 LEXMATCH
+MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301099 LEXMATCH
+MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301099 LEXMATCH
+MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301099 LEXMATCH
+MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301099 LEXMATCH
+MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301101 LEXMATCH
+MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301101 LEXMATCH
+MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301101 LEXMATCH
+MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301101 LEXMATCH
+MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301101 LEXMATCH
+MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620277 LEXMATCH
+MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620277 LEXMATCH
+MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620277 LEXMATCH
+MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620277 LEXMATCH
+MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620277 LEXMATCH
+MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301106 LEXMATCH
+MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301106 LEXMATCH
+MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301106 LEXMATCH
+MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301106 LEXMATCH
+MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301106 LEXMATCH
+MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620353 LEXMATCH
+MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620353 LEXMATCH
+MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620353 LEXMATCH
+MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620353 LEXMATCH
+MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620353 LEXMATCH
+MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620354 LEXMATCH
+MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620354 LEXMATCH
+MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620354 LEXMATCH
+MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620354 LEXMATCH
+MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620354 LEXMATCH
+MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620409 LEXMATCH
+MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620409 LEXMATCH
+MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620409 LEXMATCH
+MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620409 LEXMATCH
+MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620409 LEXMATCH
MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001890 LEXMATCH
MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d001890 LEXMATCH
MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d001890 LEXMATCH
MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch skos:exactMatch mesh:d001890 LEXMATCH
+MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620490 LEXMATCH
+MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620490 LEXMATCH
+MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620490 LEXMATCH
+MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620490 LEXMATCH
+MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620490 LEXMATCH
+MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620499 LEXMATCH
+MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620499 LEXMATCH
+MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620499 LEXMATCH
+MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620499 LEXMATCH
+MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620499 LEXMATCH
+MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620500 LEXMATCH
+MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620500 LEXMATCH
+MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620500 LEXMATCH
+MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620500 LEXMATCH
+MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620500 LEXMATCH
+MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620547 LEXMATCH
+MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620547 LEXMATCH
+MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620547 LEXMATCH
+MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620547 LEXMATCH
+MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620547 LEXMATCH
+MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620705 LEXMATCH
+MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620705 LEXMATCH
+MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620705 LEXMATCH
+MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620705 LEXMATCH
+MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620705 LEXMATCH
+MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620744 LEXMATCH
+MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620744 LEXMATCH
+MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620744 LEXMATCH
+MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620744 LEXMATCH
+MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620744 LEXMATCH
+MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301119 LEXMATCH
+MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301119 LEXMATCH
+MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301119 LEXMATCH
+MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301119 LEXMATCH
+MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301119 LEXMATCH
+MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620838 LEXMATCH
+MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620838 LEXMATCH
+MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620838 LEXMATCH
+MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620838 LEXMATCH
+MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620838 LEXMATCH
+MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620848 LEXMATCH
+MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620848 LEXMATCH
+MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620848 LEXMATCH
+MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620848 LEXMATCH
+MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620848 LEXMATCH
+MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620849 LEXMATCH
+MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620849 LEXMATCH
+MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620849 LEXMATCH
+MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620849 LEXMATCH
+MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620849 LEXMATCH
+MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620850 LEXMATCH
+MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620850 LEXMATCH
+MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620850 LEXMATCH
+MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620850 LEXMATCH
+MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620850 LEXMATCH
MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH
MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d000453 LEXMATCH
MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d000453 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv
index 745f2af15..bd46957ea 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv
@@ -667,7 +667,6 @@ MONDO:0001722 central pterygium skos:closeMatch ICD10CM:H11.02 Central pterygium
MONDO:0001730 urethral syndrome skos:closeMatch ICD10CM:N34.3 Urethral syndrome, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:13498 LEXMATCH
MONDO:0001730 urethral syndrome skos:closeMatch ICD10CM:N34.3 Urethral syndrome, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:13498 LEXMATCH
MONDO:0001734 tuberous sclerosis skos:closeMatch ICD10CM:Q85.1 Tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:13515 LEXMATCH
-MONDO:0001734 tuberous sclerosis skos:closeMatch ICD10CM:Q85.1 Tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bournevilles disorder LEXMATCH
MONDO:0001734 tuberous sclerosis skos:closeMatch ICD10CM:Q85.1 Tuberous sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:13515 LEXMATCH
MONDO:0001741 hyperparathyroidism skos:closeMatch ICD10CM:E21.3 Hyperparathyroidism, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:13543 LEXMATCH
MONDO:0001741 hyperparathyroidism skos:closeMatch ICD10CM:E21.3 Hyperparathyroidism, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:13543 LEXMATCH
@@ -1361,8 +1360,6 @@ MONDO:0004584 maple bark strippers' lung skos:closeMatch ICD10CM:J67.6 Maple-bar
MONDO:0004584 maple bark strippers' lung skos:closeMatch ICD10CM:J67.6 Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8484 LEXMATCH
MONDO:0004585 polyhydramnios skos:closeMatch ICD10CM:O40 Polyhydramnios semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:8488 LEXMATCH
MONDO:0004585 polyhydramnios skos:closeMatch ICD10CM:O40 Polyhydramnios semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8488 LEXMATCH
-MONDO:0004587 hereditary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:8498 LEXMATCH
-MONDO:0004587 hereditary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8498 LEXMATCH
MONDO:0004592 impetigo skos:closeMatch ICD10CM:L01.0 Impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:8504 LEXMATCH
MONDO:0004592 impetigo skos:closeMatch ICD10CM:L01.0 Impetigo semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8504 LEXMATCH
MONDO:0004596 cor pulmonale skos:closeMatch ICD10CM:I27 Other pulmonary heart diseases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary heart disorders LEXMATCH
@@ -2691,9 +2688,7 @@ MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch ICD10C
MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060730 LEXMATCH
MONDO:0007493 torsion dystonia 4 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090041 LEXMATCH
MONDO:0007493 torsion dystonia 4 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090041 LEXMATCH
-MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060963 LEXMATCH
MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090043 LEXMATCH
-MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060963 LEXMATCH
MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090043 LEXMATCH
MONDO:0007496 dystonia 12 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090056 LEXMATCH
MONDO:0007496 dystonia 12 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090056 LEXMATCH
@@ -4088,8 +4083,6 @@ MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch ICD10CM:G60.0
MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110158 LEXMATCH
MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110150 LEXMATCH
MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110150 LEXMATCH
-MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch ICD10CM:H90.3 Sensorineural hearing loss, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110578 LEXMATCH
-MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch ICD10CM:H90.3 Sensorineural hearing loss, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110578 LEXMATCH
MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110165 LEXMATCH
MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110165 LEXMATCH
MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch ICD10CM:G11.1 Early-onset cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060794 LEXMATCH
@@ -5342,7 +5335,9 @@ MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:closeMatc
MONDO:0016285 papillary carcinoma of the cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016285 LEXMATCH
MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016289 LEXMATCH
MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0050534 LEXMATCH
+MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:8498 LEXMATCH
MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0050534 LEXMATCH
+MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8498 LEXMATCH
MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:closeMatch ICD10CM:Q04.2 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016299 LEXMATCH
MONDO:0016344 hydranencephaly skos:closeMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:4626 LEXMATCH
MONDO:0016344 hydranencephaly skos:closeMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:4626 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv
index 683c6c824..d9480a3e5 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv
@@ -155,11 +155,12 @@ MONDO:0003189 middle ear adenocarcinoma skos:closeMatch icd11.foundation:4403761
MONDO:0003308 pleural mesothelioma skos:closeMatch icd11.foundation:291292488 Benign neoplasm of mesothelial tissue of pleura semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign pleural mesothelioma LEXMATCH
MONDO:0003319 scrotum neoplasm skos:closeMatch icd11.foundation:5747278 Malignant neoplasms of scrotum semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumour of scrotum LEXMATCH
MONDO:0003406 sleep-wake disorder skos:closeMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorders of the sleep-wake schedule LEXMATCH
-MONDO:0003406 sleep-wake disorder skos:closeMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disturbed nyctohemeral rhythm LEXMATCH
MONDO:0003406 sleep-wake disorder skos:closeMatch icd11.foundation:274880002 Sleep-wake disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep disorders LEXMATCH
MONDO:0003441 dystonic disorder skos:closeMatch icd11.foundation:1257505996 Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia disorder LEXMATCH
MONDO:0003444 intrahepatic bile duct adenoma skos:closeMatch icd11.foundation:1405884091 Intrahepatic bile duct adenoma of liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenoma of intrahepatic bile duct LEXMATCH
MONDO:0003504 anal canal neuroendocrine neoplasm skos:closeMatch icd11.foundation:1961674648 Anal endocrine tumour semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anal neuroendocrine tumour LEXMATCH
+MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch icd11.foundation:1609550585 Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroendocrine tumour of rectum LEXMATCH
+MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch icd11.foundation:1609550585 Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumour of rectum LEXMATCH
MONDO:0003725 breast adenosis skos:closeMatch icd11.foundation:2137984191 Microglandular adenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microglandular adenosis LEXMATCH
MONDO:0003725 breast adenosis skos:closeMatch icd11.foundation:2137984191 Microglandular adenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microglandular adenosis LEXMATCH
MONDO:0003767 mitral valve disorder skos:closeMatch icd11.foundation:1659232486 Mitral valve disease, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rheumatic disorder of mitral valve LEXMATCH
@@ -396,8 +397,6 @@ MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch icd11
MONDO:0007488 Lewy body dementia skos:closeMatch icd11.foundation:2091156678 Lewy body disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder LEXMATCH
MONDO:0007493 torsion dystonia 4 skos:closeMatch icd11.foundation:1494639843 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary dystonia, dyt4 type LEXMATCH
MONDO:0007493 torsion dystonia 4 skos:closeMatch icd11.foundation:1494639843 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt4 type LEXMATCH
-MONDO:0007495 dystonia 5 skos:closeMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant dopa-responsive dystonia LEXMATCH
-MONDO:0007495 dystonia 5 skos:closeMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia LEXMATCH
MONDO:0007496 dystonia 12 skos:closeMatch icd11.foundation:878904788 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rapid-onset dystonia-parkinsonism LEXMATCH
MONDO:0007496 dystonia 12 skos:closeMatch icd11.foundation:878904788 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rapid-onset dystonia-parkinsonism LEXMATCH
MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch icd11.foundation:1973837258 Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome type 2 LEXMATCH
@@ -932,7 +931,8 @@ MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch icd11.foun
MONDO:0011628 propionic acidemia skos:closeMatch icd11.foundation:1618541953 Propionic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency LEXMATCH
MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch icd11.foundation:2074400987 Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder type 2c LEXMATCH
MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch icd11.foundation:2074400987 Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder type 2c LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH
+MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym 22q13 deletion LEXMATCH
+MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label 22q13 deletion LEXMATCH
MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch icd11.foundation:1750464584 Dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant intermediate charcot-marie-tooth disorder type b LEXMATCH
MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch icd11.foundation:1970894933 Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder type 2f LEXMATCH
MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch icd11.foundation:1970894933 Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder type 2f LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv
index e8ac282ba..b1485921e 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv
@@ -1,115 +1,21 @@
subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:closeMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043410 LEXMATCH
MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:closeMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0043410 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300986 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300986 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:300986 LEXMATCH
-MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601775 LEXMATCH
-MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601775 LEXMATCH
-MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:601775 LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q13.3 deletion syndrome LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606232 LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606232 LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606232 LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606232 LEXMATCH
-MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 LEXMATCH
-MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613443 LEXMATCH
-MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613443 LEXMATCH
MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 LEXMATCH
MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613443 LEXMATCH
MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613443 LEXMATCH
-MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614980 LEXMATCH
-MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614980 LEXMATCH
-MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614980 LEXMATCH
-MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614980 LEXMATCH
-MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614980 LEXMATCH
-MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614980 LEXMATCH
-MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615314 LEXMATCH
-MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615314 LEXMATCH
-MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615314 LEXMATCH
-MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616602 LEXMATCH
-MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616602 LEXMATCH
-MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616602 LEXMATCH
-MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617164 LEXMATCH
-MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617164 LEXMATCH
-MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617164 LEXMATCH
MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:673574 Reactive angioendotheliomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reactive angioendotheliomatosis LEXMATCH
MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:673574 Reactive angioendotheliomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reactive angioendotheliomatosis LEXMATCH
MONDO:0023650 littoral cell angioma of the spleen skos:closeMatch Orphanet:673538 Littoral cell hemangioma of the spleen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym littoral cell angioma LEXMATCH
-MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617404 LEXMATCH
-MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617404 LEXMATCH
-MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617404 LEXMATCH
-MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301078 LEXMATCH
-MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301078 LEXMATCH
-MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301078 LEXMATCH
-MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619698 LEXMATCH
-MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619698 LEXMATCH
-MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619698 LEXMATCH
MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619126 LEXMATCH
MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619126 LEXMATCH
MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619126 LEXMATCH
-MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618577 LEXMATCH
-MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618577 LEXMATCH
-MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618577 LEXMATCH
-MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618622 LEXMATCH
-MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618622 LEXMATCH
-MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618622 LEXMATCH
-MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 LEXMATCH
-MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618752 LEXMATCH
-MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618752 LEXMATCH
-MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618806 LEXMATCH
-MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618806 LEXMATCH
-MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618806 LEXMATCH
-MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618828 LEXMATCH
-MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618828 LEXMATCH
-MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618828 LEXMATCH
-MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618829 LEXMATCH
-MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618829 LEXMATCH
-MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618829 LEXMATCH
-MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618092 LEXMATCH
-MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618092 LEXMATCH
-MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618092 LEXMATCH
MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620475 LEXMATCH
MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620475 LEXMATCH
MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620475 LEXMATCH
-MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 LEXMATCH
-MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616744 LEXMATCH
-MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616744 LEXMATCH
-MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619616 LEXMATCH
-MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619616 LEXMATCH
-MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619616 LEXMATCH
-MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619911 LEXMATCH
-MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619911 LEXMATCH
-MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619911 LEXMATCH
-MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619911 LEXMATCH
-MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619911 LEXMATCH
-MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619911 LEXMATCH
-MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619975 LEXMATCH
-MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619975 LEXMATCH
-MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619975 LEXMATCH
-MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620073 LEXMATCH
-MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620073 LEXMATCH
-MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620073 LEXMATCH
-MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620141 LEXMATCH
-MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620141 LEXMATCH
-MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620141 LEXMATCH
-MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620174 LEXMATCH
-MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620174 LEXMATCH
-MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620174 LEXMATCH
MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620282 LEXMATCH
MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620282 LEXMATCH
MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620282 LEXMATCH
-MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620603 LEXMATCH
-MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620603 LEXMATCH
-MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620603 LEXMATCH
-MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620746 LEXMATCH
-MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620746 LEXMATCH
-MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620746 LEXMATCH
-MONDO:0971007 neuroocular syndrome 1 skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619539 LEXMATCH
-MONDO:0971007 neuroocular syndrome 1 skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619539 LEXMATCH
-MONDO:0971007 neuroocular syndrome 1 skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619539 LEXMATCH
MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615559 LEXMATCH
MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615559 LEXMATCH
MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615559 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv
index 52fe98934..28a1174f5 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv
@@ -1,12 +1,10 @@
subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:606777 LEXMATCH
MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch DOID:0060314 persistent generalized lymphadenopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0000834 obsolete bone deterioration disease skos:exactMatch DOID:0080007 bone deterioration disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0000839 obsolete congenital abnormality skos:exactMatch DOID:0080015 physical disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 skos:exactMatch DOID:0080069 Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d005198 LEXMATCH
MONDO:0001254 obsolete peripheral scars of retina skos:exactMatch DOID:11283 peripheral scars of retina semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0001324 obsolete hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch DOID:12223 specific bursitis often of occupational origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
@@ -26,57 +24,59 @@ MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 senso
MONDO:0005641 aleutian mink disease skos:exactMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder LEXMATCH
MONDO:0005676 borna disease skos:exactMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder LEXMATCH
MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid gland spindle cell tumor with thymus-like differentiation LEXMATCH
MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papilledema LEXMATCH
MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema LEXMATCH
MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111368 cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency LEXMATCH
-MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:144200 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536157 LEXMATCH
-MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:148730 LEXMATCH
-MONDO:0008265 polycystic liver disease 1 skos:exactMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174050 LEXMATCH
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:227810 LEXMATCH
+MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dialysis dysequilibrium syndrome LEXMATCH
MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy LEXMATCH
MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:264350 LEXMATCH
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:600962 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536830 LEXMATCH
-MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:606777 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:exactMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c562602 LEXMATCH
-MONDO:0011731 glucose-galactose malabsorption skos:exactMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:606824 LEXMATCH
MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567656 LEXMATCH
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610185 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566472 LEXMATCH
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610475 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566469 LEXMATCH
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610489 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567690 LEXMATCH
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613227 LEXMATCH
-MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614190 LEXMATCH
-MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:exactMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615268 LEXMATCH
-MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615598 LEXMATCH
-MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615830 LEXMATCH
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616099 LEXMATCH
-MONDO:0014860 polycystic liver disease 2 skos:exactMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617004 LEXMATCH
MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020748 sitosterolemia 2 skos:exactMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618666 LEXMATCH
MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 LEXMATCH
MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:exactMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:224050 LEXMATCH
MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0030374 WHIM syndrome 2 skos:exactMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619407 LEXMATCH
-MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:exactMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618529 LEXMATCH
-MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617784 LEXMATCH
-MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617875 LEXMATCH
-MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617874 LEXMATCH
-MONDO:0054748 Fanconi anemia, complementation group S skos:exactMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617883 LEXMATCH
+MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301077 LEXMATCH
+MONDO:0030716 spermatogenic failure 66 skos:exactMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619799 LEXMATCH
+MONDO:0030718 spermatogenic failure 67 skos:exactMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619803 LEXMATCH
+MONDO:0030721 spermatogenic failure 68 skos:exactMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619805 LEXMATCH
+MONDO:0030732 spermatogenic failure 69 skos:exactMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619826 LEXMATCH
+MONDO:0030733 spermatogenic failure 70 skos:exactMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619828 LEXMATCH
+MONDO:0030787 spermatogenic failure 71 skos:exactMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619831 LEXMATCH
+MONDO:0030809 spermatogenic failure 72 skos:exactMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619867 LEXMATCH
+MONDO:0030818 spermatogenic failure 73 skos:exactMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619878 LEXMATCH
+MONDO:0030972 spermatogenic failure 74 skos:exactMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619937 LEXMATCH
+MONDO:0030984 spermatogenic failure 75 skos:exactMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619949 LEXMATCH
+MONDO:0031077 spermatogenic failure 76 skos:exactMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620084 LEXMATCH
+MONDO:0031083 spermatogenic failure 77 skos:exactMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620103 LEXMATCH
MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:178500 LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic fibrosing alveolitis LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic pulmonary dysplasia LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis, familial LEXMATCH
+MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary fibrosis LEXMATCH
MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150 LEXMATCH
-MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620152 LEXMATCH
-MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620153 LEXMATCH
-MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620189 LEXMATCH
-MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620411 LEXMATCH
+MONDO:0859338 spermatogenic failure 78 skos:exactMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620170 LEXMATCH
+MONDO:0859352 spermatogenic failure 79 skos:exactMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620196 LEXMATCH
+MONDO:0859364 spermatogenic failure 80 skos:exactMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620222 LEXMATCH
+MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301099 LEXMATCH
+MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301101 LEXMATCH
+MONDO:0859522 spermatogenic failure 81 skos:exactMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620277 LEXMATCH
+MONDO:0957202 spermatogenic failure, X-linked, 7 skos:exactMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301106 LEXMATCH
+MONDO:0957249 spermatogenic failure 82 skos:exactMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620353 LEXMATCH
+MONDO:0957250 spermatogenic failure 83 skos:exactMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620354 LEXMATCH
+MONDO:0957301 spermatogenic failure 84 skos:exactMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620409 LEXMATCH
+MONDO:0957584 spermatogenic failure 85 skos:exactMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620490 LEXMATCH
+MONDO:0957593 spermatogenic failure 86 skos:exactMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620499 LEXMATCH
+MONDO:0957594 spermatogenic failure 87 skos:exactMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620500 LEXMATCH
+MONDO:0957821 spermatogenic failure 88 skos:exactMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620547 LEXMATCH
+MONDO:0958206 spermatogenic failure 89 skos:exactMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620705 LEXMATCH
+MONDO:0958242 spermatogenic failure 90 skos:exactMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620744 LEXMATCH
+MONDO:0970943 spermatogenic failure, x-linked, 8 skos:exactMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301119 LEXMATCH
+MONDO:0970952 spermatogenic failure 91 skos:exactMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620838 LEXMATCH
+MONDO:0970999 spermatogenic failure 92 skos:exactMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620848 LEXMATCH
+MONDO:0971000 spermatogenic failure 93 skos:exactMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620849 LEXMATCH
+MONDO:0971002 spermatogenic failure 94 skos:exactMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620850 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv
index f89718347..28a701340 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv
@@ -640,8 +640,6 @@ MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:I09.0 Rheumatic myoc
MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:M05.3 Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis LEXMATCH
MONDO:0004584 maple bark strippers' lung skos:exactMatch ICD10CM:J67.6 Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale LEXMATCH
MONDO:0004585 polyhydramnios skos:exactMatch ICD10CM:O40 Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios LEXMATCH
-MONDO:0004587 hereditary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness LEXMATCH
-MONDO:0004587 hereditary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH
MONDO:0004592 impetigo skos:exactMatch ICD10CM:L01.0 Impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label impetigo LEXMATCH
MONDO:0004600 monocytic leukemia skos:exactMatch ICD10CM:C93 Monocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monocytic leukemia LEXMATCH
MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch ICD10CM:C81.4 Lymphocyte-rich Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma LEXMATCH
@@ -1675,6 +1673,8 @@ MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch ICD10CM:G47.411 Narc
MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch ICD10CM:G80.0 Spastic quadriplegic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic quadriplegic cerebral palsy LEXMATCH
MONDO:0016242 hemoglobin C disease skos:exactMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-c disorder LEXMATCH
MONDO:0016243 hemoglobin E disease skos:exactMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-e disorder LEXMATCH
+MONDO:0016293 congenital stationary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness LEXMATCH
+MONDO:0016293 congenital stationary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH
MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch ICD10CM:Q20.5 Discordant atrioventricular connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ventricular inversion LEXMATCH
MONDO:0016344 hydranencephaly skos:exactMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydranencephaly LEXMATCH
MONDO:0016344 hydranencephaly skos:exactMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydranencephaly LEXMATCH
@@ -2375,3 +2375,4 @@ MONDO:0859598 erythroleukemia skos:exactMatch ICD10CM:C94.0 Acute erythroid leuk
MONDO:0956962 benign teratoma skos:exactMatch ICD10CM:D28 Benign neoplasm of other and unspecified female genital organs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign teratoma LEXMATCH
MONDO:0956980 vascular parkinsonism skos:exactMatch ICD10CM:G21.4 Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism LEXMATCH
MONDO:0958083 conjoined twins skos:exactMatch ICD10CM:Q89.4 Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins LEXMATCH
+MONDO:0971058 verruga peruana skos:exactMatch ICD10CM:A44.1 Cutaneous and mucocutaneous bartonellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verruga peruana LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv
index 344051eab..270b63553 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv
@@ -1554,8 +1554,6 @@ MONDO:0024303 external hirudiniasis skos:exactMatch ICD10WHO:B88.3 External hiru
MONDO:0024304 ichthyosis vulgaris skos:exactMatch ICD10WHO:Q80.0 Ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris LEXMATCH
MONDO:0024333 sciatica skos:exactMatch ICD10WHO:M54.3 Sciatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sciatica LEXMATCH
MONDO:0024349 pityriasis alba skos:exactMatch ICD10WHO:L30.5 Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba LEXMATCH
-MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch ICD10WHO:G47.2 Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of the sleep-wake schedule LEXMATCH
-MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch ICD10WHO:G47.2 Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of the sleep-wake schedule LEXMATCH
MONDO:0024376 sleep disorder, initiating and maintaining sleep skos:exactMatch ICD10WHO:G47.0 Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of initiating and maintaining sleep LEXMATCH
MONDO:0024376 sleep disorder, initiating and maintaining sleep skos:exactMatch ICD10WHO:G47.0 Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of initiating and maintaining sleep LEXMATCH
MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch ICD10WHO:D68.0 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von willebrand disorder LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv
index 5cf351826..6feef6685 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv
@@ -1350,8 +1350,6 @@ MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch icd11.foundation
MONDO:0003628 pulmonary valve disorder skos:exactMatch icd11.foundation:1146446025 Pulmonary valve disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve disorder LEXMATCH
MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch icd11.foundation:1624575808 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenocarcinoma of pancreas LEXMATCH
MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch icd11.foundation:1624575808 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous cystadenocarcinoma of pancreas LEXMATCH
-MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1609550585 Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumour of rectum LEXMATCH
-MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1609550585 Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumour of rectum LEXMATCH
MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1619951900 Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine neoplasm LEXMATCH
MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1619951900 Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rectal neuroendocrine neoplasm LEXMATCH
MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch icd11.foundation:1167478749 Neuroendocrine tumour of oesophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumour of oesophagus LEXMATCH
@@ -1572,8 +1570,6 @@ MONDO:0004582 rheumatic myocarditis skos:exactMatch icd11.foundation:573695921 A
MONDO:0004582 rheumatic myocarditis skos:exactMatch icd11.foundation:573695921 Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis LEXMATCH
MONDO:0004584 maple bark strippers' lung skos:exactMatch icd11.foundation:824050477 Maple bark stripper lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale LEXMATCH
MONDO:0004586 rheumatoid lung disease skos:exactMatch icd11.foundation:2000006803 Respiratory disorders in rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rheumatoid lung disorder LEXMATCH
-MONDO:0004587 hereditary night blindness skos:exactMatch icd11.foundation:984060688 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness LEXMATCH
-MONDO:0004587 hereditary night blindness skos:exactMatch icd11.foundation:984060688 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH
MONDO:0004591 impetigo herpetiformis skos:exactMatch icd11.foundation:1405116325 Generalised pustular psoriasis of pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym impetigo herpetiformis LEXMATCH
MONDO:0004593 Bartholin duct cyst skos:exactMatch icd11.foundation:1632013194 Cyst of Bartholin gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bartholin duct cyst LEXMATCH
MONDO:0004594 puerperal pulmonary embolism skos:exactMatch icd11.foundation:1983458616 Obstetric blood-clot pulmonary embolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym puerperal pulmonary embolism LEXMATCH
@@ -2907,9 +2903,6 @@ MONDO:0007488 Lewy body dementia skos:exactMatch icd11.foundation:2091156678 Lew
MONDO:0007488 Lewy body dementia skos:exactMatch icd11.foundation:2091156678 Lewy body disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lewy body disorder LEXMATCH
MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch icd11.foundation:253658963 Early onset torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early onset torsion dystonia LEXMATCH
MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch icd11.foundation:253658963 Early onset torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early onset torsion dystonia LEXMATCH
-MONDO:0007495 dystonia 5 skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant segawa syndrome LEXMATCH
-MONDO:0007495 dystonia 5 skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyt5a LEXMATCH
-MONDO:0007495 dystonia 5 skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary progressive dystonia with marked diurnal fluctuation LEXMATCH
MONDO:0007510 Clouston syndrome skos:exactMatch icd11.foundation:1811429982 Hidrotic ectodermal dysplasia, Clouston type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clouston syndrome LEXMATCH
MONDO:0007510 Clouston syndrome skos:exactMatch icd11.foundation:1811429982 Hidrotic ectodermal dysplasia, Clouston type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym clouston syndrome LEXMATCH
MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch icd11.foundation:24232012 Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 3 LEXMATCH
@@ -4158,9 +4151,7 @@ MONDO:0011631 hemochromatosis type 4 skos:exactMatch icd11.foundation:1541297428
MONDO:0011638 neuroferritinopathy skos:exactMatch icd11.foundation:55060925 Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult basal ganglia disorder LEXMATCH
MONDO:0011638 neuroferritinopathy skos:exactMatch icd11.foundation:55060925 Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ferritin-related neurodegeneration LEXMATCH
MONDO:0011638 neuroferritinopathy skos:exactMatch icd11.foundation:55060925 Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ferritinopathy LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 22q13 deletion LEXMATCH
MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH
-MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q13 deletion LEXMATCH
MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH
MONDO:0011662 pathological gambling skos:exactMatch icd11.foundation:1041487064 Gambling disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym compulsive gambling LEXMATCH
MONDO:0011662 pathological gambling skos:exactMatch icd11.foundation:1041487064 Gambling disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pathological gambling LEXMATCH
@@ -4618,7 +4609,6 @@ MONDO:0015053 hereditary angioedema type 1 skos:exactMatch icd11.foundation:1918
MONDO:0015054 hereditary angioedema type 2 skos:exactMatch icd11.foundation:2078615244 Hereditary angioedema type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angioneurotic oedema type 2 LEXMATCH
MONDO:0015059 progressive non-fluent aphasia skos:exactMatch icd11.foundation:2073597518 Frontotemporal dementia, non-fluent or agrammatic variant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive non-fluent aphasia LEXMATCH
MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch icd11.foundation:123604718 Neuroendocrine tumour of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duodenal neuroendocrine tumour LEXMATCH
-MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:exactMatch icd11.foundation:1619951900 Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumour LEXMATCH
MONDO:0015069 neuroendocrine tumor of the anal canal skos:exactMatch icd11.foundation:1961674648 Anal endocrine tumour semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anal neuroendocrine tumour LEXMATCH
MONDO:0015087 autosomal dominant complex spastic paraplegia skos:exactMatch icd11.foundation:873077851 Autosomal dominant complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant complex hereditary spastic paraplegia LEXMATCH
MONDO:0015087 autosomal dominant complex spastic paraplegia skos:exactMatch icd11.foundation:873077851 Autosomal dominant complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant complex hereditary spastic paraplegia LEXMATCH
@@ -4834,6 +4824,8 @@ MONDO:0016259 carcinosarcoma of the corpus uteri skos:exactMatch icd11.foundatio
MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch icd11.foundation:1872567422 Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leiomyosarcoma of uterus LEXMATCH
MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch icd11.foundation:1872567422 Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine leiomyosarcoma LEXMATCH
MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch icd11.foundation:1872567422 Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leiomyosarcoma of uterus LEXMATCH
+MONDO:0016293 congenital stationary night blindness skos:exactMatch icd11.foundation:984060688 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness LEXMATCH
+MONDO:0016293 congenital stationary night blindness skos:exactMatch icd11.foundation:984060688 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH
MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch icd11.foundation:453750085 Classic pantothenate kinase associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 1, classic form LEXMATCH
MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch icd11.foundation:267298136 Atypical pantothenate kinase associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 1, atypical form LEXMATCH
MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch icd11.foundation:1561374771 Mucopolysaccharidosis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hunter syndrome type a LEXMATCH
@@ -5755,8 +5747,6 @@ MONDO:0022697 athetoid cerebral palsy skos:exactMatch icd11.foundation:812740125
MONDO:0022697 athetoid cerebral palsy skos:exactMatch icd11.foundation:812740125 Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskinetic cerebral palsy LEXMATCH
MONDO:0022697 athetoid cerebral palsy skos:exactMatch icd11.foundation:812740125 Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym athetoid cerebral palsy LEXMATCH
MONDO:0022790 cleft tongue skos:exactMatch icd11.foundation:340312243 Bifid tongue semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft tongue LEXMATCH
-MONDO:0023122 familial prostate carcinoma skos:exactMatch icd11.foundation:1593240346 Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial prostate cancer LEXMATCH
-MONDO:0023122 familial prostate carcinoma skos:exactMatch icd11.foundation:1593240346 Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial prostate cancer LEXMATCH
MONDO:0023286 graphite pneumoconiosis skos:exactMatch icd11.foundation:1776868524 Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graphite fibrosis of lung LEXMATCH
MONDO:0023286 graphite pneumoconiosis skos:exactMatch icd11.foundation:1776868524 Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graphite pneumoconiosis LEXMATCH
MONDO:0023286 graphite pneumoconiosis skos:exactMatch icd11.foundation:1776868524 Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graphite fibrosis of lung LEXMATCH
@@ -5789,7 +5779,6 @@ MONDO:0024331 colorectal carcinoma skos:exactMatch icd11.foundation:773139368 Ad
MONDO:0024332 perennial allergic rhinitis skos:exactMatch icd11.foundation:1240368805 Nonseasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonseasonal allergic rhinitis LEXMATCH
MONDO:0024332 perennial allergic rhinitis skos:exactMatch icd11.foundation:1240368805 Nonseasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonseasonal allergic rhinitis LEXMATCH
MONDO:0024354 cytomegalovirus pneumonia skos:exactMatch icd11.foundation:308444412 Pneumonia due to Cytomegalovirus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cytomegaloviral pneumonia LEXMATCH
-MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of the sleep-wake schedule LEXMATCH
MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type skos:exactMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delayed sleep phase syndrome LEXMATCH
MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type skos:exactMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym irregular sleep-wake pattern LEXMATCH
MONDO:0024381 circadian rhythm sleep disorder, jet lag type skos:exactMatch icd11.foundation:1461346778 Jet lag semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jet lag LEXMATCH
@@ -6077,7 +6066,14 @@ MONDO:0850225 autoimmune cholangitis skos:exactMatch icd11.foundation:421189700
MONDO:0859565 atrioventricular septal defect skos:exactMatch icd11.foundation:1069974993 Common atrioventricular junction with atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect LEXMATCH
MONDO:0957426 autosomal recessive hyper-IgE syndrome skos:exactMatch icd11.foundation:1909398175 Autosomal recessive hyperimmunoglobulin E syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive hyper-ige syndrome LEXMATCH
MONDO:0957462 primary pulmonary tuberculosis skos:exactMatch icd11.foundation:60063379 Primary respiratory tuberculosis without mention of bacteriological or histological confirmation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary pulmonary tuberculosis LEXMATCH
+MONDO:0971058 verruga peruana skos:exactMatch icd11.foundation:1480386521 Verruga peruana semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verruga peruana LEXMATCH
+MONDO:0971063 autosomal dominant dopa-responsive dystonia skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant dopa-responsive dystonia LEXMATCH
+MONDO:0971107 common arterial trunk with aortic dominance skos:exactMatch icd11.foundation:551770382 Common arterial trunk with aortic dominance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with aortic dominance LEXMATCH
+MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch skos:exactMatch icd11.foundation:97579611 Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch LEXMATCH
+MONDO:0971127 diffuse unilateral subacute neuroretinitis skos:exactMatch icd11.foundation:1362820694 Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis LEXMATCH
+MONDO:0971128 multiple evanescent white dot syndrome skos:exactMatch icd11.foundation:1817745681 Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome LEXMATCH
MONDO:1040027 hypermobility spectrum disorder skos:exactMatch icd11.foundation:24232012 Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign joint hypermobility syndrome LEXMATCH
+MONDO:1050000 sycosis barbae skos:exactMatch icd11.foundation:1245506993 Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae LEXMATCH
MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonic testicular regression syndrome LEXMATCH
MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular regression syndrome LEXMATCH
MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vanishing testes syndrome LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv
index b91d25304..9e71cc0b0 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv
@@ -125,4 +125,6 @@ MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion skos:exactMatch NC
MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion skos:exactMatch NCIT:C178462 Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion LEXMATCH
MONDO:0958302 TFEB-rearranged renal cell carcinoma skos:exactMatch NCIT:C37210 TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma LEXMATCH
MONDO:0958303 childhood renal cell carcinoma with MiT translocations skos:exactMatch NCIT:C189242 Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations LEXMATCH
+MONDO:0971056 ocular surface squamous neoplasia skos:exactMatch NCIT:C176043 Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia LEXMATCH
+MONDO:0971143 pleural mesothelioma in situ skos:exactMatch NCIT:C183134 Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ LEXMATCH
MONDO:1040026 metastatic malignant neoplasm in the brain skos:exactMatch NCIT:C3813 Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv
index ee7ba0fa4..7e092deee 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv
@@ -19,7 +19,6 @@ MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:ex
MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch OMIM:244850 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
@@ -40,7 +39,6 @@ MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:Unspec
MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv
index 9d29cc989..8007fe9f1 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv
@@ -1,870 +1,867 @@
-subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0009902 cutaneous porphyria skos:exactMatch Orphanet:659681 Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythropoietic porphyria LEXMATCH
-MONDO:0009902 cutaneous porphyria skos:exactMatch Orphanet:659681 Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythropoietic porphyria LEXMATCH
-MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary and pleural cavity tumors semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017397 obsolete constitutional dyserythropoietic anemia skos:exactMatch Orphanet:293830 Constitutional dyserythropoietic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Non-syndromic intercalary limb defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017429 obsolete joint formation defects skos:exactMatch Orphanet:294949 Non-syndromic joint formation defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non-syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018036 obsolete immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 Syndome with combined immunodeficiency due to thymic defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Rare vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020054 obsolete partial autosomal monosomy skos:exactMatch Orphanet:98142 Partial autosomal deletion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Rare genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Non-syndromic longitudinal limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Non-syndromic terminal transverse limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
-MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+subject_id subject_label predicate_id object_id object_label mapping_justification confidence comment
+MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary and pleural cavity tumors semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017397 obsolete constitutional dyserythropoietic anemia skos:exactMatch Orphanet:293830 Constitutional dyserythropoietic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Non-syndromic intercalary limb defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017429 obsolete joint formation defects skos:exactMatch Orphanet:294949 Non-syndromic joint formation defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non-syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018036 obsolete immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 Syndome with combined immunodeficiency due to thymic defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Rare vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020054 obsolete partial autosomal monosomy skos:exactMatch Orphanet:98142 Partial autosomal deletion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Rare genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Non-syndromic longitudinal limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Non-syndromic terminal transverse limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
+MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv
index f01d990ac..656e51d9f 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv
@@ -460,3 +460,4 @@ MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose i
MONDO:0100428 progressive bulbar palsy of childhood skos:narrowMatch ICD10CM:G12.1 Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym progressive bulbar palsy of childhood LEXMATCH
MONDO:0100428 progressive bulbar palsy of childhood skos:narrowMatch ICD10CM:G12.1 Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym progressive bulbar palsy of childhood LEXMATCH
MONDO:0850301 pemphigoid skos:narrowMatch ICD10CM:L12.8 Other pemphigoid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigoid LEXMATCH
+MONDO:1050000 sycosis barbae skos:narrowMatch ICD10CM:L73.8 Other specified follicular disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sycosis barbae LEXMATCH
diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv
index 3260545e7..2b3a32877 100644
--- a/src/ontology/lexmatch/unmapped_doid_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv
@@ -1,37 +1,19 @@
subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string
ID A oboInOwl:hasDbXref >A oboInOwl:source
-MONDO:0000188 GLUT1 deficiency syndrome DOID:0070560 MONDO:equivalentTo glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:606777
-MONDO:0001083 Fanconi renotubular syndrome DOID:0070562 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d005198
-MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation DOID:0081461 MONDO:equivalentTo thyroid gland spindle epithelial tumor with thymus-like elements semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid gland spindle cell tumor with thymus-like differentiation
MONDO:0006879 optic papillitis DOID:146 MONDO:equivalentTo papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papilledema
MONDO:0006879 optic papillitis DOID:146 MONDO:equivalentTo papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema
-MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 DOID:0070552 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:144200
-MONDO:0007860 focal palmoplantar and gingival keratoderma DOID:0070553 MONDO:equivalentTo focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536157
-MONDO:0007860 focal palmoplantar and gingival keratoderma DOID:0070553 MONDO:equivalentTo focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:148730
-MONDO:0009216 glycogen storage disease due to GLUT2 deficiency DOID:0070562 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:227810
+MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium DOID:0070564 MONDO:equivalentTo dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dialysis dysequilibrium syndrome
MONDO:0009669 spinal muscular atrophy, type 1 DOID:0060160 MONDO:equivalentTo childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy
MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive DOID:0060854 MONDO:equivalentTo autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:264350
-MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma DOID:0070550 MONDO:equivalentTo KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:600962
-MONDO:0011724 encephalopathy due to GLUT1 deficiency DOID:0070560 MONDO:equivalentTo glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536830
-MONDO:0011724 encephalopathy due to GLUT1 deficiency DOID:0070561 MONDO:equivalentTo glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:606777
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 DOID:0070557 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567656
-MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 DOID:0070557 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610185
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 DOID:0070547 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566472
-MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 DOID:0070547 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610475
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 DOID:0070546 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566469
-MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 DOID:0070546 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610489
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 DOID:0070558 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567690
-MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 DOID:0070558 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613227
-MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 DOID:0070548 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614190
-MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 DOID:0070559 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615268
-MONDO:0014272 palmoplantar keratoderma, Nagashima type DOID:0070555 MONDO:equivalentTo Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615598
-MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 DOID:0070549 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615830
-MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome DOID:0070554 MONDO:equivalentTo palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616099
MONDO:0020796 Silver-Russell syndrome 1 DOID:14681 MONDO:equivalentTo Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860
-MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 DOID:0070556 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:224050
-MONDO:0032800 robinow syndrome, autosomal recessive 2 DOID:0060974 MONDO:equivalentTo autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618529
-MONDO:0044325 Fanconi anemia, complementation group W DOID:0060978 MONDO:equivalentTo Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617784
-MONDO:0054748 Fanconi anemia, complementation group S DOID:0060979 MONDO:equivalentTo Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617883
+MONDO:0024773 spermatogenic failure, X-linked, 4 DOID:0070595 MONDO:equivalentTo X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301077
+MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic fibrosing alveolitis
+MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic pulmonary dysplasia
+MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis
+MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis, familial
+MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary fibrosis
MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 DOID:14671 MONDO:equivalentTo multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150
-MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy DOID:0060972 MONDO:equivalentTo renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620152
-MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 DOID:0070551 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620411
+MONDO:0859477 spermatogenic failure, X-linked, 5 DOID:0070596 MONDO:equivalentTo X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301099
+MONDO:0859478 spermatogenic failure, X-linked, 6 DOID:0070597 MONDO:equivalentTo X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301101
+MONDO:0957202 spermatogenic failure, X-linked, 7 DOID:0070598 MONDO:equivalentTo X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301106
+MONDO:0970943 spermatogenic failure, x-linked, 8 DOID:0070599 MONDO:equivalentTo X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301119
diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv
index 8e200daba..674d9b748 100644
--- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv
+++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv
@@ -3,14 +3,32 @@ ID A oboInOwl:hasDbXref >A oboInOwl:source
MONDO:0005641 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder
MONDO:0005676 borna disease DOID:5154 MONDO:equivalentTo borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder
MONDO:0007744 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency
-MONDO:0008265 polycystic liver disease 1 DOID:0060980 MONDO:equivalentTo polycystic liver disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174050
-MONDO:0011731 glucose-galactose malabsorption DOID:0070563 MONDO:equivalentTo glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c562602
-MONDO:0011731 glucose-galactose malabsorption DOID:0070563 MONDO:equivalentTo glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:606824
-MONDO:0014860 polycystic liver disease 2 DOID:0060975 MONDO:equivalentTo polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617004
-MONDO:0020748 sitosterolemia 2 DOID:0060983 MONDO:equivalentTo sitosterolemia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618666
-MONDO:0030374 WHIM syndrome 2 DOID:0060973 MONDO:equivalentTo WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619407
-MONDO:0044327 polycystic liver disease 4 with or without kidney cysts DOID:0060977 MONDO:equivalentTo polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617875
-MONDO:0054743 polycystic liver disease 3 with or without kidney cysts DOID:0060976 MONDO:equivalentTo polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617874
-MONDO:0800029 interstitial lung disease 2 DOID:0060971 MONDO:equivalentTo interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:178500
-MONDO:0859329 mosaic variegated aneuploidy syndrome 4 DOID:0060981 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620153
-MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition DOID:0060982 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620189
+MONDO:0030716 spermatogenic failure 66 DOID:0070565 MONDO:equivalentTo spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619799
+MONDO:0030718 spermatogenic failure 67 DOID:0070566 MONDO:equivalentTo spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619803
+MONDO:0030721 spermatogenic failure 68 DOID:0070567 MONDO:equivalentTo spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619805
+MONDO:0030732 spermatogenic failure 69 DOID:0070568 MONDO:equivalentTo spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619826
+MONDO:0030733 spermatogenic failure 70 DOID:0070569 MONDO:equivalentTo spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619828
+MONDO:0030787 spermatogenic failure 71 DOID:0070570 MONDO:equivalentTo spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619831
+MONDO:0030809 spermatogenic failure 72 DOID:0070571 MONDO:equivalentTo spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619867
+MONDO:0030818 spermatogenic failure 73 DOID:0070572 MONDO:equivalentTo spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619878
+MONDO:0030972 spermatogenic failure 74 DOID:0070573 MONDO:equivalentTo spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619937
+MONDO:0030984 spermatogenic failure 75 DOID:0070574 MONDO:equivalentTo spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619949
+MONDO:0031077 spermatogenic failure 76 DOID:0070575 MONDO:equivalentTo spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620084
+MONDO:0031083 spermatogenic failure 77 DOID:0070576 MONDO:equivalentTo spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620103
+MONDO:0859338 spermatogenic failure 78 DOID:0070577 MONDO:equivalentTo spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620170
+MONDO:0859352 spermatogenic failure 79 DOID:0070578 MONDO:equivalentTo spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620196
+MONDO:0859364 spermatogenic failure 80 DOID:0070579 MONDO:equivalentTo spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620222
+MONDO:0859522 spermatogenic failure 81 DOID:0070580 MONDO:equivalentTo spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620277
+MONDO:0957249 spermatogenic failure 82 DOID:0070581 MONDO:equivalentTo spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620353
+MONDO:0957250 spermatogenic failure 83 DOID:0070582 MONDO:equivalentTo spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620354
+MONDO:0957301 spermatogenic failure 84 DOID:0070583 MONDO:equivalentTo spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620409
+MONDO:0957584 spermatogenic failure 85 DOID:0070584 MONDO:equivalentTo spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620490
+MONDO:0957593 spermatogenic failure 86 DOID:0070585 MONDO:equivalentTo spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620499
+MONDO:0957594 spermatogenic failure 87 DOID:0070586 MONDO:equivalentTo spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620500
+MONDO:0957821 spermatogenic failure 88 DOID:0070587 MONDO:equivalentTo spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620547
+MONDO:0958206 spermatogenic failure 89 DOID:0070588 MONDO:equivalentTo spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620705
+MONDO:0958242 spermatogenic failure 90 DOID:0070589 MONDO:equivalentTo spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620744
+MONDO:0970952 spermatogenic failure 91 DOID:0070590 MONDO:equivalentTo spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620838
+MONDO:0970999 spermatogenic failure 92 DOID:0070591 MONDO:equivalentTo spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620848
+MONDO:0971000 spermatogenic failure 93 DOID:0070592 MONDO:equivalentTo spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620849
+MONDO:0971002 spermatogenic failure 94 DOID:0070593 MONDO:equivalentTo spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620850
diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv
index 66f4883f5..2cd32ceae 100644
--- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv
@@ -522,8 +522,6 @@ MONDO:0004582 rheumatic myocarditis ICD10CM:I01.2 MONDO:equivalentTo Acute rheum
MONDO:0004582 rheumatic myocarditis ICD10CM:I01.2 MONDO:equivalentTo Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis
MONDO:0004582 rheumatic myocarditis ICD10CM:M05.3 MONDO:equivalentTo Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis
MONDO:0004584 maple bark strippers' lung ICD10CM:J67.6 MONDO:equivalentTo Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale
-MONDO:0004587 hereditary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness
-MONDO:0004587 hereditary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness
MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance ICD10CM:C81.4 MONDO:equivalentTo Lymphocyte-rich Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma
MONDO:0004608 oropharynx cancer ICD10CM:C10.2 MONDO:equivalentTo Malignant neoplasm of lateral wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of lateral wall of oropharynx
MONDO:0004608 oropharynx cancer ICD10CM:C10.2 MONDO:equivalentTo Malignant neoplasm of lateral wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lateral wall of oropharynx
@@ -1420,6 +1418,8 @@ MONDO:0016158 narcolepsy-cataplexy syndrome ICD10CM:G47.411 MONDO:equivalentTo N
MONDO:0016158 narcolepsy-cataplexy syndrome ICD10CM:G47.411 MONDO:equivalentTo Narcolepsy with cataplexy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy with cataplexy
MONDO:0016242 hemoglobin C disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-c disorder
MONDO:0016243 hemoglobin E disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-e disorder
+MONDO:0016293 congenital stationary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness
+MONDO:0016293 congenital stationary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness
MONDO:0016301 congenitally corrected transposition of the great arteries ICD10CM:Q20.5 MONDO:equivalentTo Discordant atrioventricular connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ventricular inversion
MONDO:0016344 hydranencephaly ICD10CM:Q04.3 MONDO:equivalentTo Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydranencephaly
MONDO:0016344 hydranencephaly ICD10CM:Q04.3 MONDO:equivalentTo Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydranencephaly
@@ -1972,3 +1972,4 @@ MONDO:0858950 traumatic brain injury ICD10CM:S06 MONDO:equivalentTo Intracranial
MONDO:0859006 proximal femoral focal deficiency ICD10CM:Q72.4 MONDO:equivalentTo Longitudinal reduction defect of femur semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proximal femoral focal deficiency
MONDO:0859598 erythroleukemia ICD10CM:C94.0 MONDO:equivalentTo Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia
MONDO:0956962 benign teratoma ICD10CM:D28 MONDO:equivalentTo Benign neoplasm of other and unspecified female genital organs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign teratoma
+MONDO:0971058 verruga peruana ICD10CM:A44.1 MONDO:equivalentTo Cutaneous and mucocutaneous bartonellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verruga peruana
diff --git a/src/ontology/lexmatch/unmapped_icd10who_lex.tsv b/src/ontology/lexmatch/unmapped_icd10who_lex.tsv
index 78e7f1c86..9e33052b4 100644
--- a/src/ontology/lexmatch/unmapped_icd10who_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_icd10who_lex.tsv
@@ -860,8 +860,6 @@ MONDO:0022697 athetoid cerebral palsy ICD10WHO:G80.3 MONDO:equivalentTo Dyskinet
MONDO:0022697 athetoid cerebral palsy ICD10WHO:G80.3 MONDO:equivalentTo Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskinetic cerebral palsy
MONDO:0023483 infectious myositis ICD10WHO:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infective myositis
MONDO:0023483 infectious myositis ICD10WHO:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infective myositis
-MONDO:0024361 circadian rhythm sleep disorder ICD10WHO:G47.2 MONDO:equivalentTo Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of the sleep-wake schedule
-MONDO:0024361 circadian rhythm sleep disorder ICD10WHO:G47.2 MONDO:equivalentTo Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of the sleep-wake schedule
MONDO:0024376 sleep disorder, initiating and maintaining sleep ICD10WHO:G47.0 MONDO:equivalentTo Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of initiating and maintaining sleep
MONDO:0024376 sleep disorder, initiating and maintaining sleep ICD10WHO:G47.0 MONDO:equivalentTo Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of initiating and maintaining sleep
MONDO:0024574 von Willebrand disease (hereditary or acquired) ICD10WHO:D68.0 MONDO:equivalentTo Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von willebrand disorder
diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv
index e55fc99b6..b660472a5 100644
--- a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv
@@ -1300,8 +1300,6 @@ MONDO:0003627 rheumatic pulmonary valve disease icd11.foundation:1146446025 MOND
MONDO:0003628 pulmonary valve disorder icd11.foundation:1146446025 MONDO:equivalentTo Pulmonary valve disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve disorder
MONDO:0003630 pancreatic serous cystadenocarcinoma icd11.foundation:1624575808 MONDO:equivalentTo Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenocarcinoma of pancreas
MONDO:0003630 pancreatic serous cystadenocarcinoma icd11.foundation:1624575808 MONDO:equivalentTo Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous cystadenocarcinoma of pancreas
-MONDO:0003646 rectum neuroendocrine neoplasm icd11.foundation:1609550585 MONDO:equivalentTo Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumour of rectum
-MONDO:0003646 rectum neuroendocrine neoplasm icd11.foundation:1609550585 MONDO:equivalentTo Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumour of rectum
MONDO:0003646 rectum neuroendocrine neoplasm icd11.foundation:1619951900 MONDO:equivalentTo Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine neoplasm
MONDO:0003646 rectum neuroendocrine neoplasm icd11.foundation:1619951900 MONDO:equivalentTo Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rectal neuroendocrine neoplasm
MONDO:0003649 esophageal neuroendocrine tumor icd11.foundation:1167478749 MONDO:equivalentTo Neuroendocrine tumour of oesophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumour of oesophagus
@@ -1511,8 +1509,6 @@ MONDO:0004582 rheumatic myocarditis icd11.foundation:573695921 MONDO:equivalentT
MONDO:0004582 rheumatic myocarditis icd11.foundation:573695921 MONDO:equivalentTo Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis
MONDO:0004584 maple bark strippers' lung icd11.foundation:824050477 MONDO:equivalentTo Maple bark stripper lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale
MONDO:0004586 rheumatoid lung disease icd11.foundation:2000006803 MONDO:equivalentTo Respiratory disorders in rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rheumatoid lung disorder
-MONDO:0004587 hereditary night blindness icd11.foundation:984060688 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness
-MONDO:0004587 hereditary night blindness icd11.foundation:984060688 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness
MONDO:0004591 impetigo herpetiformis icd11.foundation:1405116325 MONDO:equivalentTo Generalised pustular psoriasis of pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym impetigo herpetiformis
MONDO:0004593 Bartholin duct cyst icd11.foundation:1632013194 MONDO:equivalentTo Cyst of Bartholin gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bartholin duct cyst
MONDO:0004594 puerperal pulmonary embolism icd11.foundation:1983458616 MONDO:equivalentTo Obstetric blood-clot pulmonary embolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym puerperal pulmonary embolism
@@ -2810,9 +2806,6 @@ MONDO:0007488 Lewy body dementia icd11.foundation:2091156678 MONDO:equivalentTo
MONDO:0007488 Lewy body dementia icd11.foundation:2091156678 MONDO:equivalentTo Lewy body disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lewy body disorder
MONDO:0007492 early-onset generalized limb-onset dystonia icd11.foundation:253658963 MONDO:equivalentTo Early onset torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early onset torsion dystonia
MONDO:0007492 early-onset generalized limb-onset dystonia icd11.foundation:253658963 MONDO:equivalentTo Early onset torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early onset torsion dystonia
-MONDO:0007495 dystonia 5 icd11.foundation:1143673207 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant segawa syndrome
-MONDO:0007495 dystonia 5 icd11.foundation:1143673207 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyt5a
-MONDO:0007495 dystonia 5 icd11.foundation:1143673207 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary progressive dystonia with marked diurnal fluctuation
MONDO:0007510 Clouston syndrome icd11.foundation:1811429982 MONDO:equivalentTo Hidrotic ectodermal dysplasia, Clouston type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clouston syndrome
MONDO:0007510 Clouston syndrome icd11.foundation:1811429982 MONDO:equivalentTo Hidrotic ectodermal dysplasia, Clouston type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym clouston syndrome
MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type icd11.foundation:24232012 MONDO:equivalentTo Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 3
@@ -4013,9 +4006,7 @@ MONDO:0011631 hemochromatosis type 4 icd11.foundation:1541297428 MONDO:equivalen
MONDO:0011638 neuroferritinopathy icd11.foundation:55060925 MONDO:equivalentTo Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult basal ganglia disorder
MONDO:0011638 neuroferritinopathy icd11.foundation:55060925 MONDO:equivalentTo Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ferritin-related neurodegeneration
MONDO:0011638 neuroferritinopathy icd11.foundation:55060925 MONDO:equivalentTo Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ferritinopathy
-MONDO:0011652 Phelan-McDermid syndrome icd11.foundation:1667492731 MONDO:equivalentTo 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 22q13 deletion
MONDO:0011652 Phelan-McDermid syndrome icd11.foundation:1667492731 MONDO:equivalentTo 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phelan-mcdermid syndrome
-MONDO:0011652 Phelan-McDermid syndrome icd11.foundation:1667492731 MONDO:equivalentTo 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q13 deletion
MONDO:0011652 Phelan-McDermid syndrome icd11.foundation:1667492731 MONDO:equivalentTo 22q13 deletion semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phelan-mcdermid syndrome
MONDO:0011662 pathological gambling icd11.foundation:1041487064 MONDO:equivalentTo Gambling disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym compulsive gambling
MONDO:0011662 pathological gambling icd11.foundation:1041487064 MONDO:equivalentTo Gambling disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pathological gambling
@@ -4440,7 +4431,6 @@ MONDO:0015053 hereditary angioedema type 1 icd11.foundation:1918767567 MONDO:equ
MONDO:0015054 hereditary angioedema type 2 icd11.foundation:2078615244 MONDO:equivalentTo Hereditary angioedema type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angioneurotic oedema type 2
MONDO:0015059 progressive non-fluent aphasia icd11.foundation:2073597518 MONDO:equivalentTo Frontotemporal dementia, non-fluent or agrammatic variant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive non-fluent aphasia
MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade icd11.foundation:123604718 MONDO:equivalentTo Neuroendocrine tumour of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duodenal neuroendocrine tumour
-MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade icd11.foundation:1619951900 MONDO:equivalentTo Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumour
MONDO:0015069 neuroendocrine tumor of the anal canal icd11.foundation:1961674648 MONDO:equivalentTo Anal endocrine tumour semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anal neuroendocrine tumour
MONDO:0015087 autosomal dominant complex spastic paraplegia icd11.foundation:873077851 MONDO:equivalentTo Autosomal dominant complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant complex hereditary spastic paraplegia
MONDO:0015087 autosomal dominant complex spastic paraplegia icd11.foundation:873077851 MONDO:equivalentTo Autosomal dominant complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant complex hereditary spastic paraplegia
@@ -4647,6 +4637,8 @@ MONDO:0016259 carcinosarcoma of the corpus uteri icd11.foundation:1711927798 MON
MONDO:0016262 leiomyosarcoma of the corpus uteri icd11.foundation:1872567422 MONDO:equivalentTo Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leiomyosarcoma of uterus
MONDO:0016262 leiomyosarcoma of the corpus uteri icd11.foundation:1872567422 MONDO:equivalentTo Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine leiomyosarcoma
MONDO:0016262 leiomyosarcoma of the corpus uteri icd11.foundation:1872567422 MONDO:equivalentTo Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leiomyosarcoma of uterus
+MONDO:0016293 congenital stationary night blindness icd11.foundation:984060688 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness
+MONDO:0016293 congenital stationary night blindness icd11.foundation:984060688 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness
MONDO:0016304 classic pantothenate kinase-associated neurodegeneration icd11.foundation:453750085 MONDO:equivalentTo Classic pantothenate kinase associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 1, classic form
MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration icd11.foundation:267298136 MONDO:equivalentTo Atypical pantothenate kinase associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 1, atypical form
MONDO:0016315 mucopolysaccharidosis type 2, severe form icd11.foundation:1561374771 MONDO:equivalentTo Mucopolysaccharidosis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hunter syndrome type a
@@ -5527,8 +5519,6 @@ MONDO:0022697 athetoid cerebral palsy icd11.foundation:812740125 MONDO:equivalen
MONDO:0022697 athetoid cerebral palsy icd11.foundation:812740125 MONDO:equivalentTo Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskinetic cerebral palsy
MONDO:0022697 athetoid cerebral palsy icd11.foundation:812740125 MONDO:equivalentTo Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym athetoid cerebral palsy
MONDO:0022790 cleft tongue icd11.foundation:340312243 MONDO:equivalentTo Bifid tongue semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft tongue
-MONDO:0023122 familial prostate carcinoma icd11.foundation:1593240346 MONDO:equivalentTo Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial prostate cancer
-MONDO:0023122 familial prostate carcinoma icd11.foundation:1593240346 MONDO:equivalentTo Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial prostate cancer
MONDO:0023286 graphite pneumoconiosis icd11.foundation:1776868524 MONDO:equivalentTo Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graphite fibrosis of lung
MONDO:0023286 graphite pneumoconiosis icd11.foundation:1776868524 MONDO:equivalentTo Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graphite pneumoconiosis
MONDO:0023286 graphite pneumoconiosis icd11.foundation:1776868524 MONDO:equivalentTo Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graphite fibrosis of lung
@@ -5561,7 +5551,6 @@ MONDO:0024331 colorectal carcinoma icd11.foundation:773139368 MONDO:equivalentTo
MONDO:0024332 perennial allergic rhinitis icd11.foundation:1240368805 MONDO:equivalentTo Nonseasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonseasonal allergic rhinitis
MONDO:0024332 perennial allergic rhinitis icd11.foundation:1240368805 MONDO:equivalentTo Nonseasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonseasonal allergic rhinitis
MONDO:0024354 cytomegalovirus pneumonia icd11.foundation:308444412 MONDO:equivalentTo Pneumonia due to Cytomegalovirus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cytomegaloviral pneumonia
-MONDO:0024361 circadian rhythm sleep disorder icd11.foundation:1359329403 MONDO:equivalentTo Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of the sleep-wake schedule
MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type icd11.foundation:1359329403 MONDO:equivalentTo Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delayed sleep phase syndrome
MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type icd11.foundation:1359329403 MONDO:equivalentTo Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym irregular sleep-wake pattern
MONDO:0024381 circadian rhythm sleep disorder, jet lag type icd11.foundation:1461346778 MONDO:equivalentTo Jet lag semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jet lag
diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv
index 67c255c14..a82ef0d76 100644
--- a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv
+++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv
@@ -1,2 +1,9 @@
subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string
ID A oboInOwl:hasDbXref >A oboInOwl:source
+MONDO:0971058 verruga peruana icd11.foundation:1480386521 MONDO:equivalentTo Verruga peruana semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verruga peruana
+MONDO:0971063 autosomal dominant dopa-responsive dystonia icd11.foundation:1143673207 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant dopa-responsive dystonia
+MONDO:0971107 common arterial trunk with aortic dominance icd11.foundation:551770382 MONDO:equivalentTo Common arterial trunk with aortic dominance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with aortic dominance
+MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch icd11.foundation:97579611 MONDO:equivalentTo Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch
+MONDO:0971127 diffuse unilateral subacute neuroretinitis icd11.foundation:1362820694 MONDO:equivalentTo Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis
+MONDO:0971128 multiple evanescent white dot syndrome icd11.foundation:1817745681 MONDO:equivalentTo Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome
+MONDO:1050000 sycosis barbae icd11.foundation:1245506993 MONDO:equivalentTo Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae
diff --git a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv
index 4959e1fe2..379566778 100644
--- a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv
+++ b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv
@@ -67,4 +67,6 @@ MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion NCIT:C178461 MONDO
MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion NCIT:C178462 MONDO:equivalentTo Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion
MONDO:0958302 TFEB-rearranged renal cell carcinoma NCIT:C37210 MONDO:equivalentTo TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma
MONDO:0958303 childhood renal cell carcinoma with MiT translocations NCIT:C189242 MONDO:equivalentTo Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations
+MONDO:0971056 ocular surface squamous neoplasia NCIT:C176043 MONDO:equivalentTo Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia
+MONDO:0971143 pleural mesothelioma in situ NCIT:C183134 MONDO:equivalentTo Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ
MONDO:1040026 metastatic malignant neoplasm in the brain NCIT:C3813 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain
diff --git a/src/ontology/lexmatch/unmapped_ordo_lex.tsv b/src/ontology/lexmatch/unmapped_ordo_lex.tsv
index 2373157b0..67c255c14 100644
--- a/src/ontology/lexmatch/unmapped_ordo_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_ordo_lex.tsv
@@ -1,4 +1,2 @@
subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string
ID A oboInOwl:hasDbXref >A oboInOwl:source
-MONDO:0009902 cutaneous porphyria Orphanet:659681 MONDO:equivalentTo Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythropoietic porphyria
-MONDO:0009902 cutaneous porphyria Orphanet:659681 MONDO:equivalentTo Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythropoietic porphyria
diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json
index 371fbd850..4ec413a2b 100644
--- a/src/ontology/metadata/doid-metrics.json
+++ b/src/ontology/metadata/doid-metrics.json
@@ -4,10 +4,10 @@
"abox_axiom_count_incl": 0,
"annotation_property_count": 27,
"annotation_property_count_incl": 27,
- "axiom_count": 129102,
- "axiom_count_incl": 129102,
- "class_count": 13160,
- "class_count_incl": 13160,
+ "axiom_count": 129444,
+ "axiom_count_incl": 129444,
+ "class_count": 13204,
+ "class_count_incl": 13204,
"dataproperty_count": 0,
"dataproperty_count_incl": 0,
"datatypes_count": 2,
@@ -20,13 +20,13 @@
"expressivity_incl": "C",
"individual_count": 0,
"individual_count_incl": 0,
- "logical_axiom_count": 16223,
- "logical_axiom_count_incl": 16223,
+ "logical_axiom_count": 16297,
+ "logical_axiom_count_incl": 16297,
"obj_property_count": 0,
"obj_property_count_incl": 0,
"ontology_anno_count": 11,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/doid.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/doid.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
@@ -37,13 +37,13 @@
"rdfs": false,
"rule_count": 0,
"rule_count_incl": 0,
- "signature_entity_count": 13189,
- "signature_entity_count_incl": 13189,
+ "signature_entity_count": 13233,
+ "signature_entity_count_incl": 13233,
"syntax": "RDF/XML Syntax",
- "tbox_axiom_count": 16223,
- "tbox_axiom_count_incl": 16223,
- "tboxrbox_axiom_count": 16223,
- "tboxrbox_axiom_count_incl": 16223,
+ "tbox_axiom_count": 16297,
+ "tbox_axiom_count_incl": 16297,
+ "tboxrbox_axiom_count": 16297,
+ "tboxrbox_axiom_count_incl": 16297,
"axiom_types": [
"AnnotationAssertion",
"SubAnnotationPropertyOf",
@@ -67,24 +67,24 @@
"valid_imports": [],
"valid_imports_incl": [],
"axiom_type_count": {
- "AnnotationAssertion": 99692,
+ "AnnotationAssertion": 99916,
"SubAnnotationPropertyOf": 1,
"DisjointClasses": 26,
- "Declaration": 13186,
- "SubClassOf": 16197
+ "Declaration": 13230,
+ "SubClassOf": 16271
},
"axiom_type_count_incl": {
- "AnnotationAssertion": 99692,
+ "AnnotationAssertion": 99916,
"SubAnnotationPropertyOf": 1,
"DisjointClasses": 26,
- "Declaration": 13186,
- "SubClassOf": 16197
+ "Declaration": 13230,
+ "SubClassOf": 16271
},
"class_expression_count": {
- "Class": 45766
+ "Class": 45958
},
"class_expression_count_incl": {
- "Class": 45766
+ "Class": 45958
},
"curie_map": {
"oboInOwl": "http://www.geneontology.org/formats/oboInOwl#",
@@ -110,44 +110,44 @@
"dc": "http://purl.org/dc/terms/"
},
"namespace_axiom_count": {
- "oboInOwl": 70326,
- "owl": 2485,
- "DOID": 44220,
- "HP": 118,
- "skos": 6086,
+ "oboInOwl": 70396,
+ "owl": 2489,
+ "DOID": 44400,
+ "HP": 114,
+ "skos": 6153,
"CL": 62,
- "rdfs": 19828,
+ "rdfs": 19907,
"FOODON": 24,
"NCBITaxon": 322,
"TRANS": 13,
"SYMP": 306,
"dc11": 2,
- "rdf": 61,
- "IAO": 2227,
+ "rdf": 60,
+ "IAO": 2230,
"CHEBI": 90,
- "UBERON": 394,
+ "UBERON": 410,
"SO": 17,
"obo": 192,
"GENO": 10,
"dc": 1
},
"namespace_axiom_count_incl": {
- "oboInOwl": 70326,
- "owl": 2485,
- "DOID": 44220,
- "HP": 118,
- "skos": 6086,
+ "oboInOwl": 70396,
+ "owl": 2489,
+ "DOID": 44400,
+ "HP": 114,
+ "skos": 6153,
"CL": 62,
- "rdfs": 19828,
+ "rdfs": 19907,
"FOODON": 24,
"NCBITaxon": 322,
"TRANS": 13,
"SYMP": 306,
"dc11": 2,
- "rdf": 61,
- "IAO": 2227,
+ "rdf": 60,
+ "IAO": 2230,
"CHEBI": 90,
- "UBERON": 394,
+ "UBERON": 410,
"SO": 17,
"obo": 192,
"GENO": 10,
@@ -156,8 +156,8 @@
"namespace_entity_count": {
"oboInOwl": 12,
"owl": 2,
- "DOID": 11614,
- "HP": 118,
+ "DOID": 11646,
+ "HP": 114,
"xsd": 1,
"CL": 62,
"skos": 5,
@@ -170,7 +170,7 @@
"rdf": 1,
"CHEBI": 90,
"IAO": 2,
- "UBERON": 394,
+ "UBERON": 410,
"SO": 17,
"obo": 191,
"GENO": 10,
@@ -179,8 +179,8 @@
"namespace_entity_count_incl": {
"oboInOwl": 12,
"owl": 2,
- "DOID": 11614,
- "HP": 118,
+ "DOID": 11646,
+ "HP": 114,
"xsd": 1,
"CL": 62,
"skos": 5,
@@ -193,7 +193,7 @@
"rdf": 1,
"CHEBI": 90,
"IAO": 2,
- "UBERON": 394,
+ "UBERON": 410,
"SO": 17,
"obo": 191,
"GENO": 10,
diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json
index 048d3005e..55d282cc8 100644
--- a/src/ontology/metadata/gard-metrics.json
+++ b/src/ontology/metadata/gard-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 1,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/gard.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/gard.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json
index 3612cc5b8..ef3be2a2d 100644
--- a/src/ontology/metadata/icd10cm-metrics.json
+++ b/src/ontology/metadata/icd10cm-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 5,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd10cm.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10cm.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json
index ba61956ba..ee1012c41 100644
--- a/src/ontology/metadata/icd10who-metrics.json
+++ b/src/ontology/metadata/icd10who-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 5,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd10who.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10who.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json
index 6c99149a9..1d61ea44d 100644
--- a/src/ontology/metadata/icd11foundation-metrics.json
+++ b/src/ontology/metadata/icd11foundation-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 5,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd11foundation.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd11foundation.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json
index 43ea86b94..322a9f3e5 100644
--- a/src/ontology/metadata/ncit-metrics.json
+++ b/src/ontology/metadata/ncit-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 7,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/ncit.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ncit.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": false,
diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json
index c99fdca6b..8e6ec7724 100644
--- a/src/ontology/metadata/omim-metrics.json
+++ b/src/ontology/metadata/omim-metrics.json
@@ -4,10 +4,10 @@
"abox_axiom_count_incl": 0,
"annotation_property_count": 19,
"annotation_property_count_incl": 19,
- "axiom_count": 347317,
- "axiom_count_incl": 347317,
- "class_count": 19534,
- "class_count_incl": 19534,
+ "axiom_count": 354395,
+ "axiom_count_incl": 354395,
+ "class_count": 22954,
+ "class_count_incl": 22954,
"dataproperty_count": 0,
"dataproperty_count_incl": 0,
"datatypes_count": 2,
@@ -20,13 +20,13 @@
"expressivity_incl": "E",
"individual_count": 0,
"individual_count_incl": 0,
- "logical_axiom_count": 22779,
- "logical_axiom_count_incl": 22779,
+ "logical_axiom_count": 26211,
+ "logical_axiom_count_incl": 26211,
"obj_property_count": 7,
"obj_property_count_incl": 7,
"ontology_anno_count": 1,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/omim.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/omim.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
@@ -37,13 +37,13 @@
"rdfs": false,
"rule_count": 0,
"rule_count_incl": 0,
- "signature_entity_count": 19562,
- "signature_entity_count_incl": 19562,
+ "signature_entity_count": 22982,
+ "signature_entity_count_incl": 22982,
"syntax": "RDF/XML Syntax",
- "tbox_axiom_count": 22779,
- "tbox_axiom_count_incl": 22779,
- "tboxrbox_axiom_count": 22779,
- "tboxrbox_axiom_count_incl": 22779,
+ "tbox_axiom_count": 26211,
+ "tbox_axiom_count_incl": 26211,
+ "tboxrbox_axiom_count": 26211,
+ "tboxrbox_axiom_count_incl": 26211,
"axiom_types": [
"AnnotationAssertion",
"SubAnnotationPropertyOf",
@@ -65,24 +65,24 @@
"valid_imports": [],
"valid_imports_incl": [],
"axiom_type_count": {
- "AnnotationAssertion": 304981,
+ "AnnotationAssertion": 305207,
"SubAnnotationPropertyOf": 1,
- "Declaration": 19556,
- "SubClassOf": 22779
+ "Declaration": 22976,
+ "SubClassOf": 26211
},
"axiom_type_count_incl": {
- "AnnotationAssertion": 304981,
+ "AnnotationAssertion": 305207,
"SubAnnotationPropertyOf": 1,
- "Declaration": 19556,
- "SubClassOf": 22779
+ "Declaration": 22976,
+ "SubClassOf": 26211
},
"class_expression_count": {
- "Class": 65082,
- "ObjectSomeValuesFrom": 17831
+ "Class": 75366,
+ "ObjectSomeValuesFrom": 21258
},
"class_expression_count_incl": {
- "Class": 65082,
- "ObjectSomeValuesFrom": 17831
+ "Class": 75366,
+ "ObjectSomeValuesFrom": 21258
},
"curie_map": {
"oboInOwl": "http://www.geneontology.org/formats/oboInOwl#",
@@ -99,35 +99,35 @@
"obo": "http://purl.obolibrary.org/obo/"
},
"namespace_axiom_count": {
- "prefix_unknown": 87969,
- "oboInOwl": 90086,
- "MONDO": 19091,
- "rdf": 21030,
+ "prefix_unknown": 98248,
+ "oboInOwl": 90181,
+ "MONDO": 19114,
+ "rdf": 21040,
"owl": 1366,
"IAO": 55207,
- "skos": 81178,
- "rdfs": 40131,
- "biolink": 36962,
- "CHR": 7580,
- "RO": 17838,
+ "skos": 81231,
+ "rdfs": 40169,
+ "biolink": 36999,
+ "CHR": 7585,
+ "RO": 21265,
"obo": 2345
},
"namespace_axiom_count_incl": {
- "prefix_unknown": 87969,
- "oboInOwl": 90086,
- "MONDO": 19091,
- "rdf": 21030,
+ "prefix_unknown": 98248,
+ "oboInOwl": 90181,
+ "MONDO": 19114,
+ "rdf": 21040,
"owl": 1366,
"IAO": 55207,
- "skos": 81178,
- "rdfs": 40131,
- "biolink": 36962,
- "CHR": 7580,
- "RO": 17838,
+ "skos": 81231,
+ "rdfs": 40169,
+ "biolink": 36999,
+ "CHR": 7585,
+ "RO": 21265,
"obo": 2345
},
"namespace_entity_count": {
- "prefix_unknown": 18092,
+ "prefix_unknown": 21512,
"oboInOwl": 4,
"owl": 2,
"xsd": 1,
@@ -142,7 +142,7 @@
"obo": 2
},
"namespace_entity_count_incl": {
- "prefix_unknown": 18092,
+ "prefix_unknown": 21512,
"oboInOwl": 4,
"owl": 2,
"xsd": 1,
diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json
index 65ba08619..5e8eb27f5 100644
--- a/src/ontology/metadata/ordo-metrics.json
+++ b/src/ontology/metadata/ordo-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 4,
"ontology_anno_count": 12,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/ordo.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ordo.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv
index 858b48ec8..d41d794e5 100644
--- a/src/ontology/reports/component_signature-doid.tsv
+++ b/src/ontology/reports/component_signature-doid.tsv
@@ -893,7 +893,6 @@
-
@@ -1746,7 +1745,6 @@
-
@@ -2315,6 +2313,42 @@
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
@@ -3419,7 +3453,6 @@
-
@@ -4416,7 +4449,6 @@
-
@@ -11834,7 +11866,6 @@
-
@@ -11848,7 +11879,6 @@
-
@@ -11900,14 +11930,12 @@
-
-
@@ -12822,7 +12850,11 @@
+
+
+
+
@@ -12836,6 +12868,7 @@
+