Nager Acrofacial Dysostosis
Disease ID: disease_node_15739
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| Dbxref | GARD:498, MIM:154400, NCI:C35795, UMLS_CUI:C1332140 |
|---|---|
| Subclassof | DOID_0060379 |
| Data Source | DOID |
| Synonyms | AFD, Nager syndrome, acrofacial dysostosis 1, Nager type, preaxial acrofacial dysostosis, preaxial manibulofacial dysostosis |
| Doid Label | Nager acrofacial dysostosis |
| Doid Description | An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_15739 |
| Doid Id | DOID_5768 |
| Label | Nager Acrofacial Dysostosis |
- Outgoing r'ship
SUBCLASS_OFto/from Acrofacial Dysostosis(ID:disease_node_15738) (Disease)