Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

TELOMERASE RNA COMPONENT

Synonyms

TELOMERASE RNA CANDIDATE 3

ID

http://purl.bioontology.org/ontology/OMIM/602322

altLabel

TELOMERASE RNA CANDIDATE 3

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1

PULMONARY FIBROSIS, TELOMERE-RELATED, 2

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2

BONE MARROW FAILURE, TELOMERE-RELATED, 2

TR

TERC

TRC3

PULMONARY FIBROSIS AND BONE MARROW FAILURE, TELOMERE-RELATED, 2

cui

C4016783

C4016784

C1366448

C4016785

C3553622

C1851970

Gene Locus

3q21-q28

Gene Symbol

DKCA1

TERC

PFBMFT2

TR

TRC3

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602322.0002

http://purl.bioontology.org/ontology/OMIM/602322.0010

http://purl.bioontology.org/ontology/OMIM/602322.0003

http://purl.bioontology.org/ontology/OMIM/602322.0004

http://purl.bioontology.org/ontology/OMIM/602322.0008

http://purl.bioontology.org/ontology/OMIM/602322.0009

http://purl.bioontology.org/ontology/OMIM/602322.0001

http://purl.bioontology.org/ontology/OMIM/602322.0011

http://purl.bioontology.org/ontology/OMIM/602322.0012

http://purl.bioontology.org/ontology/OMIM/602322.0006

http://purl.bioontology.org/ontology/OMIM/602322.0013

http://purl.bioontology.org/ontology/OMIM/602322.0005

http://purl.bioontology.org/ontology/OMIM/602322.0007

MIMTYPEMEANING

Gene with known sequence

notation

602322

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TELOMERASE RNA COMPONENT

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2097 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C565079 Medical Subject Headings CUI