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Disease Ontology Browser
trichorhinophalangeal syndrome type I (DOID:14743)
Alliance: disease page
Synonyms: Trichorhinophalangeal dysplasia type I; trichorhinophalangeal syndrome type 1; type I trichorhinophalangeal syndrome
Alt IDs: OMIM:190350, DOID:0050552, MESH:C536820, NCI:C75109, ORDO:77258, UMLS_CUI:C0432233
Definition: A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).

Disease References using Mouse Models (2)
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