Also known as congenital hypotrichosis with juvenile macular dystrophy, Hjmd, hypotrichosis with cone-rod dystrophy, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD
via PubMed
a hypotrichosis that has material basis in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).