Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

retinitis pigmentosa 13

Synonyms

RP13

Definitions

A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3.

ID

http://purl.obolibrary.org/obo/DOID_0110403

database_cross_reference

OMIM:600059

MESH:C564008

ICD10CM:H35.5

definition

A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3.

has exact synonym

RP13

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0110403

label

retinitis pigmentosa 13

notation

DOID:0110403

prefLabel

retinitis pigmentosa 13

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_0010806 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/600059 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C564008 Medical Subject Headings / 医学主题词表 LOOM