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Metadata
ID DOID:0080376
Name trichorhinophalangeal syndrome type III
Definition An autosomal dominant disease 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

OMIM:190351

Synonyms

trichorhinophalangeal syndrome type 3 [EXACT]

Parent Relationships

is_a autosomal dominant disease

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