Cerebellofaciodental Syndrome
Disease ID: disease_node_20271
Connections displayed (default: 10).
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| Dbxref | MIM:616202, ORDO:444072 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | cerebellar-facial-dental syndrome |
| Doid Label | cerebellofaciodental syndrome |
| Doid Description | A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20271 |
| Doid Id | DOID_0080898 |
| Label | Cerebellofaciodental Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)