Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

RETINOBLASTOMA
Synonyms

RB1

RB
ID

http://purl.bioontology.org/ontology/OMIM/180200
altLabel

RB1

RB
cui

C0035335
Gene Locus

13q14.1-q14.2
Gene Symbol

RB1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU009657

http://purl.bioontology.org/ontology/OMIM/MTHU018216

http://purl.bioontology.org/ontology/OMIM/MTHU007429

http://purl.bioontology.org/ontology/OMIM/MTHU015817

http://purl.bioontology.org/ontology/OMIM/MTHU015815

http://purl.bioontology.org/ontology/OMIM/MTHU053351

http://purl.bioontology.org/ontology/OMIM/MTHU015822

http://purl.bioontology.org/ontology/OMIM/MTHU015821

http://purl.bioontology.org/ontology/OMIM/MTHU009582

http://purl.bioontology.org/ontology/OMIM/MTHU008966

http://purl.bioontology.org/ontology/OMIM/MTHU034783

http://purl.bioontology.org/ontology/OMIM/MTHU015816
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

180200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

RETINOBLASTOMA
Scope Statement

Incidence 1 in 15,000-28,000 births [MISCELLANEOUS]

Approximately 40% of cases are inherited or new germline mutations [MISCELLANEOUS]

Caused by mutation in the RB1 gene (RB1, 614041.0001) [MOLECULAR BASIS]

Approximately 60% of cases are due to somatic mutations and are unilateral [MISCELLANEOUS]
tui

T191
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10038918 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/370967009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/M-95103 SNMI CUI
http://purl.bioontology.org/ontology/RCD/XaBB5 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10038916 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/370967009 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10038918 MDRGER CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035335 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MESH/D012175 MESH CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043733 PDQ CUI
http://purl.bioontology.org/ontology/WHOFRE/1682 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10038918 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/2018-3452 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/19906005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10038916 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002615 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X00eS RCD CUI
http://purl.bioontology.org/ontology/WHO/1682 WHO-ART CUI
http://purl.bioontology.org/ontology/MSHFRE/D012175 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/19906005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10038916 MDRGER CUI
http://purl.bioontology.org/ontology/ICPC2P/F74006 ICPC2P CUI
http://purl.bioontology.org/ontology/LNC/LA16305-7 LOINC CUI
http://localhost/plosthes.2017-1#10052 PLOSTHES LOOM
http://nanbyodata.jp/ontology/NANDO_2200042 NANDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/370967009 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.580.625.600.725 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C7541 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10038916 MEDDRA LOOM
http://radlex.org/RID/RID4472 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10813 OCHV LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035335 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/HP_0009919 HP LOOM
http://purl.obolibrary.org/obo/HP_0009919 UPHENO LOOM
http://purl.bioontology.org/ontology/MESH/D012175 MESH LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12635 BIRNLEX LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000043733 PDQ LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2420 IFAR LOOM
http://www.co-ode.org/ontologies/galen#Retinoblastoma GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.470.670.725 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_122 HRDO LOOM
http://purl.bioontology.org/ontology/CSP/2018-3452 CRISP LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19906005 SNOMEDCT LOOM
http://www.radlex.org/RID/RID4472 RADLEX LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00051 OCIMIDO LOOM
http://purl.obolibrary.org/obo/OMIT_0013095 OMIT LOOM
http://purl.bioontology.org/ontology/RCD/X00eS RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 DOVES LOOM
http://purl.obolibrary.org/obo/MPATH_378 MPATH LOOM
http://purl.obolibrary.org/obo/MPATH_378 UPHENO LOOM
http://purl.obolibrary.org/obo/MPATH_378 ZP LOOM
http://purl.bioontology.org/ontology/WHO/1682 WHO-ART LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7541 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D012175 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Retinoblastoma PEDTERM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0035335 OCHV LOOM
rgo:08014 GAMUTS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12635 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12635 NIFSTD LOOM
http://purl.bioontology.org/ontology/ICPC2P/F74006 ICPC2P LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_768 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085679 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.364.818.760 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_790 ORDO LOOM
http://purl.bioontology.org/ontology/LNC/LA16305-7 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.465.625.600.725 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_768 CLO LOOM
http://purl.obolibrary.org/obo/DOID_768 DTO LOOM
http://purl.obolibrary.org/obo/DOID_768 DOID LOOM
http://purl.obolibrary.org/obo/DOID_768 BAO LOOM
http://purl.obolibrary.org/obo/DOID_768 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_768 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_768 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_768 FNS-H LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_50730 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Retinoblastoma CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.319.475.760 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.768.717.760 RH-MESH LOOM