congenital hypotrichosis with juvenile macular dystrophy

Summary

DOID:0110711 - congenital hypotrichosis with juvenile macular dystrophy

Disease Ontology Definition:A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.

Synonyms: Hjmd, HJMD, hypotrichosis with cone-rod dystrophy

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

: cdh3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011107 - synovial joint of pelvic girdle

MONDO:0011107 - synovial joint of pelvic girdle

MIM:

MIM:601553 - HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD

MIM:601553 - HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD

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

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

Parent(s): autosomal recessive disease (is_a), hypotrichosis (is_a), physical disorder (is_a)