Summary Literature (0)

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 I trichorhinophalangeal syndrome, type III trichorhinophalangeal syndrome,

Xenbase Genes : trps1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008596 - trichorhinophalangeal syndrome type I

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee