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Summary Literature (0)
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 : cdh3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011107 - congenital hypotrichosis with juvenile macular dystrophy


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)