Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

EXOSTOSIN GLYCOSYLTRANSFERASE 1
Synonyms

EXT1
ID

http://purl.bioontology.org/ontology/OMIM/608177
altLabel

EXT1

EXOSTOSES, MULTIPLE, TYPE I

CHONDROSARCOMA

CHONDROSARCOMA, SOMATIC

EXOSTOSIN 1

EXT
cui

C0008479

C0015306

C0694878

C4017146
Gene Locus

8q24.11-q24.13
Gene Symbol

EXT1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/608177.0013

http://purl.bioontology.org/ontology/OMIM/608177.0011

http://purl.bioontology.org/ontology/OMIM/608177.0010

http://purl.bioontology.org/ontology/OMIM/608177.0012

http://purl.bioontology.org/ontology/OMIM/608177.0001

http://purl.bioontology.org/ontology/OMIM/608177.0007

http://purl.bioontology.org/ontology/OMIM/608177.0003

http://purl.bioontology.org/ontology/OMIM/608177.0009

http://purl.bioontology.org/ontology/OMIM/608177.0006

http://purl.bioontology.org/ontology/OMIM/608177.0005

http://purl.bioontology.org/ontology/OMIM/608177.0008

http://purl.bioontology.org/ontology/OMIM/608177.0004

http://purl.bioontology.org/ontology/OMIM/608177.0002
MIMTYPEMEANING

Gene with known sequence
notation

608177
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

EXOSTOSIN GLYCOSYLTRANSFERASE 1
tui

T033

T019

T191

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10008726 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LP34985-9 LOINC CUI
http://purl.bioontology.org/ontology/MSHFRE/D002813 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10008734 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10008737 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10008734 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10008726 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/443520009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10008737 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/1163016002 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10008734 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10008726 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1163016002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/M-92203 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10008737 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/443520009 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000770 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/XaB9x RCD CUI
http://purl.bioontology.org/ontology/MESH/D002813 MESH CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000039486 PDQ CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001175 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10069148 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/254044004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254044004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D005097 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-01033 SNMI CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000725379 PDQ CUI
http://purl.bioontology.org/ontology/ICD10CM/Q78.6 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/PG48. RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-00D02 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10069148 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/Q78.6 ICD10 CUI
http://purl.bioontology.org/ontology/MSHFRE/D005097 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/1849-1975 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10069148 MEDDRA CUI
http://www.orpha.net/ORDO/Orphanet_121645 ORDO LOOM