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Preferred Name

CHONDROSARCOMA
ID

http://purl.bioontology.org/ontology/OMIM/215300
cui

C0008479
Gene Locus

8q24.11-q24.13
Gene Symbol

EXT1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU067557
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

215300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CHONDROSARCOMA
Scope Statement

Caused by somatic mutation in the exostosin glycosyltransferase 1 gene (EXT1, 608177.0005) [MOLECULAR BASIS]
tui

T191
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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2946 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/D002813 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D002813 Medical Subject Headings / 医学主题词表 LOOM
http://www.orpha.net/ORDO/Orphanet_55880 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/NCIT_C2946 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.obolibrary.org/obo/DOID_3371 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_3371 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/HP_0006765 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008977 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MPATH_392 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://www.ebi.ac.uk/efo/EFO_0000333 Experimental Factor Ontology / 实验性因素本体 LOOM