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trichorhinophalangeal syndrome type III
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0080376
- Mondo Disease Ontology
- ORDO
- OMIM
