Orofaciodigital Syndrome Ii
Disease ID: disease_node_19253
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| Dbxref | GARD:3701, MIM:252100, ORDO:2751 |
|---|---|
| Subclassof | DOID_0050737, DOID_4501 |
| Data Source | DOID |
| Synonyms | Mohr syndrome, Oral-facial-digital syndrome type 2 |
| Doid Label | orofaciodigital syndrome II |
| Doid Description | An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19253 |
| Doid Id | DOID_0060959 |
| Label | Orofaciodigital Syndrome Ii |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Orofaciodigital Syndromes(ID:disease_node_5739) (Disease)