OBO ID: DOID:0110008
Term Name: achromatopsia 3 Search Ontology:
Synonyms:
  • ACHM1
  • ACHM3
  • Pingelapese blindness
  • RMCH1
  • rod monochromacy 1
  • rod monochromatism 1
Definition: An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. (2)
References:
Ontology: Human Disease   (DOID:0110008)
OTHER achromatopsia 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNGB3 Achromatopsia 3 262300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None