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congenital hypotrichosis with juvenile macular dystrophy
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease hypotrichosis physical disorder
External Links
- Disease Ontology
- DOID:0110711
- Mondo Disease Ontology
- OMIM
- GARD
