Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0110711 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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