Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

RETINITIS PIGMENTOSA 30
Synonyms

RP30
ID

http://purl.bioontology.org/ontology/OMIM/607921
altLabel

RP30

MACULAR DEGENERATION
cui

C1842816

C0024437
Gene Locus

17q25
Gene Symbol

RFSN

RP30

FSCN2
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

607921
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

RETINITIS PIGMENTOSA 30
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/MTHU020821 Logical Observation Identifier Names and Codes CUI
http://purl.obolibrary.org/obo/DOID_0110406 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C564310 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564310 Medical Subject Headings LOOM