Orofaciodigital Syndrome Xx
Disease ID: disease_node_19250
Connections displayed (default: 10).
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| Dbxref | MIM:620718 |
|---|---|
| Subclassof | DOID_0050737, DOID_4501 |
| Data Source | DOID |
| Doid Label | orofaciodigital syndrome XX |
| Doid Description | An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19250 |
| Doid Id | DOID_0060962 |
| Label | Orofaciodigital Syndrome Xx |
- 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)