Visualize Submit Comment

Metadata
ID	DOID:0110711
Name	congenital hypotrichosis with juvenile macular dystrophy
Definition	A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. https://www.ncbi.nlm.nih.gov/pubmed/11544476
Xrefs	GARD:3066 OMIM:601553
Subsets	DO_rare_slim
Synonyms	Hjmd [EXACT] hypotrichosis with cone-rod dystrophy [EXACT]
Parent Relationships	is_a hypotrichosis is_a physical disorder is_a autosomal recessive disease