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Disease Ontology Browser
trichorhinophalangeal syndrome type I (DOID:14743)
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Synonyms: Sugio-Kajii syndrome; Trichorhinophalangeal dysplasia type I; type I trichorhinophalangeal syndrome; type III trichorhinophalangeal syndrome
Alt IDs: OMIM:190350, OMIM:190351, DOID:0050552, MESH:C536820, NCI:C75109, UMLS_CUI:C0432233
Definition: An autosomal dominant disease 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 (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
The Jackson Laboratory