Preferred Name

cone-rod dystrophy 3

Synonyms

CORD3

Definitions

A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.

ID

http://purl.obolibrary.org/obo/DOID_0111013

database_cross_reference

MESH:C565827

OMIM:604116

GARD:10653

definition

A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.

has exact synonym

CORD3

has_obo_namespace

disease_ontology

id

DOID:0111013

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

cone-rod dystrophy 3

notation

DOID:0111013

prefLabel

cone-rod dystrophy 3

subClassOf

http://purl.obolibrary.org/obo/DOID_0050572

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