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DOID:14743 - trichorhinophalangeal syndrome type I
Disease Ontology 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).
Synonyms: Sugio-Kajii syndrome, Trichorhinophalangeal dysplasia type I, trichorhinophalangeal syndrome type 1, type III trichorhinophalangeal syndrome, type I trichorhinophalangeal syndrome
Xenbase Genes
:
trps1
| MONDO:0008596 - trichorhinophalangeal syndrome type I |
| MIM:190350 - TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 |
| MIM:190351 - TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)