Crouzon Syndrome-Acanthosis Nigricans Syndrome
Disease ID: disease_node_19032
Connections displayed (default: 10).
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| Dbxref | MIM:612247, ORDO:93262 |
|---|---|
| Subclassof | DOID_0050736, DOID_225, DOID_0080001 |
| Data Source | DOID |
| Synonyms | CAN, Crouzon-dermoskeletal syndrome, Crouzonodermoskeletal syndrome |
| Disease Has Location | UBERON_0004766 |
| Doid Label | Crouzon syndrome-acanthosis nigricans syndrome |
| Doid Description | A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19032 |
| Doid Id | DOID_0111161 |
| Label | Crouzon Syndrome-Acanthosis Nigricans Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Bone Diseases(ID:disease_node_1637) (Disease)