trichorhinophalangeal syndrome type I

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: trps1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008596 - trichorhinophalangeal syndrome type I

MONDO:0008596 - trichorhinophalangeal syndrome type I

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)