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 )

Relationships
is a type of: autosomal dominant disease syndrome