Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

PAPILLOMA OF CHOROID PLEXUS
Synonyms

CHOROID PLEXUS CARCINOMA

CPP

CPC

CHOROID PLEXUS PAPILLOMA

ID

http://purl.bioontology.org/ontology/OMIM/260500

altLabel

CHOROID PLEXUS CARCINOMA

CPP

CPC

CHOROID PLEXUS PAPILLOMA

cui

C0431109

C0205770

Gene Locus

17p13.1

Gene Symbol

BCC7

BMFS5

P53

TP53

LFS1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU049088

http://purl.bioontology.org/ontology/OMIM/MTHU049090

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU007182

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU036348

http://purl.bioontology.org/ontology/OMIM/MTHU043108

http://purl.bioontology.org/ontology/OMIM/MTHU002455

http://purl.bioontology.org/ontology/OMIM/MTHU049089

http://purl.bioontology.org/ontology/OMIM/MTHU000242

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

260500

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PAPILLOMA OF CHOROID PLEXUS

Scope Statement

Caused by mutation in the tumor protein p53 gene (TP53, 191170.0036) [MOLECULAR BASIS]

tui

T191

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/88252006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/1156641000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10067478 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10002225 MDRGER CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043274 PDQ CUI
http://purl.bioontology.org/ontology/SCTSPA/1156471001 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10067478 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10067478 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10002225 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/88252006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10002225 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C562943 MESH CUI
http://purl.bioontology.org/ontology/RCD/Xa993 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1156471001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/M-93903 SNMI CUI
http://purl.bioontology.org/ontology/RCD/Xa992 RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004097 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10008777 MDRGER CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043274 PDQ CUI
http://purl.bioontology.org/ontology/MESH/D020288 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10008777 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1156641000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D020288 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/M-93900 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10008777 MEDDRA CUI
http://www.limics.org/hrdo/rdfns#pat_id_2550 HRDO LOOM
http://identifiers.org/omim/260500 REXO LOOM
http://identifiers.org/omim/260500 GEXO LOOM
http://identifiers.org/omim/260500 RETO LOOM
http://www.orpha.net/ORDO/Orphanet_2807 ORDO LOOM