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Disease Ontology Browser
trichorhinophalangeal syndrome type III (DOID:0080376)
Alliance: disease page
Synonyms: trichorhinophalangeal syndrome type 3
Alt IDs: OMIM:190351, ORDO:77258
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory