Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

retinitis pigmentosa 4

Synonyms

RP4

Definitions

A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.

ID

http://purl.obolibrary.org/obo/DOID_0110372

database_cross_reference

ICD10CM:H35.5

MESH:C566706

OMIM:613731

definition

A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.

has exact synonym

RP4

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0110372

label

retinitis pigmentosa 4

notation

DOID:0110372

prefLabel

retinitis pigmentosa 4

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_10584

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/613731 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/C566706 Medical Subject Headings LOOM