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DO Term : achromatopsia 3 [DOID:0110008] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.

synonyms:
GARD:9650,
RMCH1,
ACHM3,
262300,
rod monochromatism 1,
ACHM1,
Pingelapese blindness,
rod monochromacy 1,
OMIM:262300,
MESH:C536129

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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