Orofaciodigital Syndrome Xiv
Disease ID: disease_node_19254
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:13655, MIM:615948, ORDO:434179 |
|---|---|
| Subclassof | DOID_0050737, DOID_4501 |
| Data Source | DOID |
| Doid Label | orofaciodigital syndrome XIV |
| Doid Description | An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19254 |
| Doid Id | DOID_0060958 |
| Label | Orofaciodigital Syndrome Xiv |
- Outgoing r'ship
SUBCLASS_OFto/from Orofaciodigital Syndromes(ID:disease_node_5739) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)