Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

retinitis pigmentosa 71

Synonyms

RP71

Definitions

A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23.

ID

http://purl.obolibrary.org/obo/DOID_0110363

database_cross_reference

OMIM:616394

ICD10CM:H35.5

definition

A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23.

has exact synonym

RP71

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0110363

label

retinitis pigmentosa 71

notation

DOID:0110363

prefLabel

retinitis pigmentosa 71

subClassOf

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

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

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http://purl.obolibrary.org/obo/MONDO_0014618 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0014618 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/616394 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM