Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

retinitis pigmentosa 18

Synonyms

RP18

Definitions

A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21.

ID

http://purl.obolibrary.org/obo/DOID_0110356

database_cross_reference

ICD10CM:H35.5

MESH:C563320

OMIM:601414

definition

A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21.

has exact synonym

RP18

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0110356

label

retinitis pigmentosa 18

notation

DOID:0110356

prefLabel

retinitis pigmentosa 18

subClassOf

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

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

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http://purl.obolibrary.org/obo/MONDO_0011075 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/601414 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C563320 Medical Subject Headings / 医学主题词表 LOOM