Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

GLIOMA SUSCEPTIBILITY 1

Synonyms

GLIOBLASTOMA MULTIFORME

ID

http://purl.bioontology.org/ontology/OMIM/137800

altLabel

GLIOBLASTOMA MULTIFORME

EPENDYMOMA

GLM1

OLIGODENDROGLIOMA

GLM

GBM

ASTROCYTOMA

SUBEPENDYMOMA

GLIOMA OF BRAIN, FAMILIAL

cui

C0206725

C1621958

C0028945

C0014474

C0004114

C2750850

C1842010

Gene Locus

17p13.1

Gene Symbol

BCC7

BMFS5

P53

TP53

LFS1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036792

http://purl.bioontology.org/ontology/OMIM/MTHU036793

http://purl.bioontology.org/ontology/OMIM/MTHU036795

http://purl.bioontology.org/ontology/OMIM/MTHU036794

http://purl.bioontology.org/ontology/OMIM/MTHU036791

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

131445

600139

notation

137800

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

GLIOMA SUSCEPTIBILITY 1

Scope Statement

Susceptibility conferred by mutation in the tumor protein p53 gene (TP53, 191170.0042) [MOLECULAR BASIS]

Gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) [MISCELLANEOUS]

tui

T033

T191

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D018315 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10018337 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10030286 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10014967 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10003571 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C564230 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003777 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/M-93831 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/4553004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/4553004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D018315 MESH CUI
http://purl.bioontology.org/ontology/MESH/D005909 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10018337 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/1163375002 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D005909 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/XM0B6 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10018337 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/2012-6410 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1163375002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/393563007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/393563007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/M-94403 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10030286 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/1156974002 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10030286 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D009837 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D009837 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/443936004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/Xa998 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/443936004 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/2012-6589 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1156974002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/M-94503 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/443643007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/M-93913 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D004806 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1186904005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001117 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/2012-5783 CRISP CUI
http://purl.bioontology.org/ontology/RCD/Xa994 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10014967 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/443643007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10014967 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D004806 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/1186904005 SCTSPA CUI
http://purl.bioontology.org/ontology/WHO/1777 WHO-ART CUI
http://purl.bioontology.org/ontology/MESH/D001254 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000501 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/2012-6768 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10003571 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10003571 MDRFRE CUI
http://purl.bioontology.org/ontology/WHOFRE/1777 WHOFRE CUI
http://purl.bioontology.org/ontology/RCD/Xa995 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D001254 MSHFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/N74001 ICPC2P CUI
http://purl.bioontology.org/ontology/SCTSPA/1157043006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/M-94003 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1157043006 SNOMEDCT CUI
http://purl.obolibrary.org/obo/MONDO_0024498 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0024498 EFO LOOM
http://purl.obolibrary.org/obo/MIM_137800 DOID LOOM
http://purl.obolibrary.org/obo/OMIM_137800 HHEAR LOOM
http://purl.obolibrary.org/obo/OMIM_137800 NIFSTD LOOM
http://purl.obolibrary.org/obo/MONDO_0024498 DOVES LOOM