Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Jump to:
loading...
Preferred Name

RETINITIS PIGMENTOSA 30
Synonyms

RP30

MACULAR DEGENERATION
ID

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

RP30

MACULAR DEGENERATION
cui

C1842816

C0024437
Gene Locus

17q25
Gene Symbol

FSCN2

RFSN

RP30
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 mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564310 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10025414 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10038876 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10025409 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10012148 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10025409 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10012148 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10025400 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10038876 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LP75053-6 LOINC CUI
http://purl.bioontology.org/ontology/WHO/1148 WHO-ART CUI
http://purl.bioontology.org/ontology/LNC/MTHU020821 LOINC CUI
http://purl.bioontology.org/ontology/CST/RETINAL%20DIS COSTART CUI
http://purl.bioontology.org/ontology/MESH/D008268 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10025409 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10038876 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA16307-3 LOINC CUI
http://purl.bioontology.org/ontology/WHOFRE/1148 WHOFRE CUI
http://purl.bioontology.org/ontology/CSP/4003-0034 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10012148 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10025400 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/422338006 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/Xa9BN RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D008268 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/422338006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10025414 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/F84001 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10025414 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10025400 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0011935 MONDO LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_1_1_26 HAMIDEHSGH LOOM
http://purl.obolibrary.org/obo/DOID_0110406 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0110406 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0110406 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0110406 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0110406 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0110406 FNS-H LOOM
http://identifiers.org/omim/607921 REXO LOOM
http://identifiers.org/omim/607921 GEXO LOOM
http://identifiers.org/omim/607921 RETO LOOM
http://purl.bioontology.org/ontology/MESH/C564310 MESH LOOM
http://purl.obolibrary.org/obo/OMIM_607921 CCO LOOM
http://purl.obolibrary.org/obo/MONDO_0011935 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564310 RH-MESH LOOM