| Term Name: | trichorhinophalangeal syndrome type III |
|---|---|
| Synonyms: | trichorhinophalangeal syndrome type 3 |
| Definition: | 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. |
| Ontology: | Human Disease [DOID:0080376] ( DOID:0080376 ) |