Trichorhinophalangeal Syndrome Type Iii
Disease ID: disease_node_20114
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| Dbxref | MIM:190351, ORDO:77258 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | trichorhinophalangeal syndrome type 3 |
| Doid Label | trichorhinophalangeal syndrome type III |
| Doid Description | A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20114 |
| Doid Id | DOID_0080376 |
| Label | Trichorhinophalangeal Syndrome Type Iii |
- 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)