loading...| Preferred Name |
Weyers acrofacial dysostosis |
|
| Synonyms |
acrofacial dysostosis, Weyers type |
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| Definitions |
An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111571 |
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| database_cross_reference |
UMLS_CUI:C0457013 OMIM:193530 SNOMEDCT_US_2023_03_01:277807007 MESH:C536695 GARD:497 ORDO:952 |
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| has exact synonym |
acrofacial dysostosis, Weyers type WAD Weyers acrodental dysostosis Curry-Hall syndrome |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111571 |
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| in_subset | ||
| label |
Weyers acrofacial dysostosis |
|
| notation |
DOID:0111571 |
|
| prefLabel |
Weyers acrofacial dysostosis |
|
| textual definition |
An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. |
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| subClassOf |