Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

cone-rod dystrophy

Synonyms

cone-rod retinal dystrophy

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.

ID

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

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

GARD:10790

ICD10CM:H35.5

ORDO:1872

definition

A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.

disease has basis in

http://purl.obolibrary.org/obo/SO_0000704

has exact synonym

cone-rod retinal dystrophy

has_obo_namespace

disease_ontology

id

DOID:0050572

in_subset

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

label

cone-rod dystrophy

notation

DOID:0050572

prefLabel

cone-rod dystrophy

subClassOf

http://purl.obolibrary.org/obo/DOID_8466

http://purl.obolibrary.org/obo/DOID_0050177

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http://purl.bioontology.org/ontology/OMIM/MTHU001509 Online Mendelian Inheritance in Man LOOM