congenital hypotrichosis with juvenile macular dystrophy

Term ID

DOID:0110711

Synonyms

• Hjmd
• hypotrichosis with cone-rod 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

References

• GARD:3066
• OMIM:601553

Ontology

Human Disease   ( DOID:0110711 )