| Metadata | |
|---|---|
| ID | DOID:0080376 |
| Name | trichorhinophalangeal syndrome type III |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
trichorhinophalangeal syndrome type 3 [EXACT] |
| Parent Relationships |
is_a syndrome |