Term Name: | trichorhinophalangeal syndrome type III |
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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 ) |