Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

retinitis pigmentosa 41

Synonyms

RP41

Definitions

A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15.

ID

http://purl.obolibrary.org/obo/DOID_0110376

database_cross_reference

OMIM:612095

MESH:C567422

ICD10CM:H35.5

definition

A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15.

has exact synonym

RP41

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0110376

label

retinitis pigmentosa 41

notation

DOID:0110376

prefLabel

retinitis pigmentosa 41

subClassOf

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

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

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http://purl.bioontology.org/ontology/MESH/C567422 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0012796 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/612095 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM