Preferred Name

RETINITIS PIGMENTOSA 4

Synonyms

RP4

ID

http://purl.bioontology.org/ontology/OMIM/613731

altLabel

RP4

RETINITIS PIGMENTOSA, RHODOPSIN-RELATED

cui

C3151001

Gene Locus

3q21-q24

Gene Symbol

OPN2

RHO

RP4

CSNBAD1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU034562

http://purl.bioontology.org/ontology/OMIM/MTHU034565

http://purl.bioontology.org/ontology/OMIM/MTHU034563

http://purl.bioontology.org/ontology/OMIM/MTHU034561

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU000322

http://purl.bioontology.org/ontology/OMIM/MTHU034564

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

613731

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

RETINITIS PIGMENTOSA 4

Scope Statement

Mild asymmetric regional disease (e.g. 180380.0029) [MISCELLANEOUS]

Onset in first decade (e.g. 180380.0028) [MISCELLANEOUS]

Caused by mutation in the rhodopsin gene (RHO, 180380.0001) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0013395 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0110372 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C566706 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C566706 Medical Subject Headings / 医学主题词表 LOOM