Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

CARPAL TUNNEL SYNDROME 1

Synonyms

CTS

ID

http://purl.bioontology.org/ontology/OMIM/115430

altLabel

CTS

CTS1

CARPAL TUNNEL SYNDROME

AMYOTROPHY, THENAR, OF CARPAL ORIGIN

cui

C0007286

C5779776

Gene Locus

18q11.2-q12.1

Gene Symbol

TTR

PALB

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU071376

http://purl.bioontology.org/ontology/OMIM/MTHU071380

http://purl.bioontology.org/ontology/OMIM/MTHU071378

http://purl.bioontology.org/ontology/OMIM/MTHU071375

http://purl.bioontology.org/ontology/OMIM/MTHU071374

http://purl.bioontology.org/ontology/OMIM/MTHU071379

http://purl.bioontology.org/ontology/OMIM/MTHU071381

http://purl.bioontology.org/ontology/OMIM/MTHU071382

http://purl.bioontology.org/ontology/OMIM/MTHU071377

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

115430

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CARPAL TUNNEL SYNDROME 1

Scope Statement

Age of onset in sixth decade of life [MISCELLANEOUS]

Caused by mutation in the transthyretin gene (TTR, 176300.0033) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/NDFRT/N0000000693 NDFRT CUI
http://purl.bioontology.org/ontology/WHO/1397 WHO-ART CUI
http://purl.bioontology.org/ontology/WHOFRE/1397 WHOFRE CUI
http://purl.bioontology.org/ontology/MESH/D002349 MESH CUI
http://purl.bioontology.org/ontology/ICD10/G56.0 ICD10 CUI
http://purl.bioontology.org/ontology/AIR/DXCTS AI-RHEUM CUI
http://purl.bioontology.org/ontology/MDRGER/10007697 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/G56.0 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/G56.00 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/57406009 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/XE15g RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10007697 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/TENOSYNOVITIS COSTART CUI
http://purl.bioontology.org/ontology/CSP/2042-6577 CRISP CUI
http://purl.bioontology.org/ontology/ICPC2P/N93001 ICPC2P CUI
http://purl.bioontology.org/ontology/MSHFRE/D002349 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10007697 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-43020 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/57406009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/AIR/CTS AI-RHEUM CUI
http://purl.bioontology.org/ontology/ICD9CM/354.0 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/X75at RCD CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007286 MEDLINEPLUS CUI
http://purl.obolibrary.org/obo/MONDO_0020730 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020730 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0070466 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0070466 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0070466 NIFSTD LOOM
http://purl.obolibrary.org/obo/MONDO_0020730 DOVES LOOM
http://purl.obolibrary.org/obo/OMIM_115430 CCO LOOM
http://identifiers.org/omim/115430 REXO LOOM
http://identifiers.org/omim/115430 GEXO LOOM
http://identifiers.org/omim/115430 RETO LOOM