| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
HJMD [EXACT] hypotrichosis with cone-rod dystrophy [EXACT] |
| Parent Relationships |
is_a hypotrichosis is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
existence starts during some Young adult onset has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |