trichorhinophalangeal syndrome type III

Term ID

DOID:0080376

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. https://rarediseases.info.nih.gov/diseases/7802/disease

References

• MIM:190351
• ORDO:77258

Ontology

Human Disease   ( DOID:0080376 )