Fraser Syndrome
Disease ID: disease_node_12538
Connections displayed (default: 10).
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| Dbxref | GARD:6465, ICD10CM:Q87.0, MESH:D058497, MIM:PS219000, ORDO:2052 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | cryptophthalmos with other malformations |
| Mesh Id | D058497 |
| Mesh Label | Fraser Syndrome |
| Mesh Subclassof | D014564, D000015, D013576, D005124 |
| Doid Label | Fraser syndrome |
| Doid Description | A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_12538 |
| Doid Id | DOID_0090001 |
| Label | Fraser Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Fraser Syndrome 3(ID:disease_node_20263) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Fraser Syndrome 1(ID:disease_node_20264) (Disease) - 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) - Incoming r'ship
SUBCLASS_OFto/from Fraser Syndrome 2(ID:disease_node_20262) (Disease)