Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

retinitis pigmentosa 18

Synonyms

RP18

RP 18

retinitis pigmentosa type 18

retinitis pigmentosa 18

retinitis pigmentosa caused by mutation in PRPF3

PRPF3 retinitis pigmentosa

Definitions

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0011075

database_cross_reference

GARD:0010392

OMIM:601414

DOID:0110356

MESH:C563320

ICD10CM:H35.5

UMLS:C1832378

definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.

exactMatch

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

https://omim.org/entry/601414

http://identifiers.org/mesh/C563320

http://linkedlifedata.com/resource/umls/id/C1832378

has_exact_synonym

RP18

retinitis pigmentosa type 18

retinitis pigmentosa 18

retinitis pigmentosa caused by mutation in PRPF3

PRPF3 retinitis pigmentosa

has_related_synonym

RP 18

id

MONDO:0011075

in_subset

http://purl.obolibrary.org/obo/mondo#gard_rare

label

retinitis pigmentosa 18

notation

MONDO:0011075

prefLabel

retinitis pigmentosa 18

seeAlso

https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18

treeView

http://purl.obolibrary.org/obo/MONDO_0019200

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019200

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http://purl.obolibrary.org/obo/DOID_0110356 Human Disease Ontology / 人类疾病本体 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