Disease #01711 (chondrosarcoma (chondrosarcoma), OMIM:215300)

Official abbreviation chondrosarcoma
Name chondrosarcoma
OMIM ID 215300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 6
Associated with 2 genes EXT1, EXT2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00118015 - {PMID10441575:Bovée, 1999} - - - - - - - - - chondrosarcoma - EXT1 EXT1 1 1 Ivy Jennes
00118087 - {PMID8981950:Hecht, 1997} This deletion was found in chondrosarcoma DNA, but not in constututional DNA. It's a somatic mutation. Patient had no MO) - - - - - - - - chondrosarcoma - EXT1 EXT1 1 1 Ivy Jennes
00118190 - {PMID10441575:Bovée, 1999} Demonstrated an obvious EXT phenotype and had a family history of knee operations. - - - - - - - - chondrosarcoma - EXT1 EXT1 1 1 Ivy Jennes
00118891 - {PMID15796962:Tsuchiya, 2005} - - - - - - - - - chondrosarcoma - EXT2 EXT2 1 1 Ivy Jennes
00118935 - {PMID15796962:Tsuchiya, 2005} - - - - - - - - - chondrosarcoma - EXT2 EXT2 1 1 Ivy Jennes
00332373 Fam1 PubMed: Tong 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - chondrosarcoma see paper; ... EXT1, EXT2 EXT1 1 1 Johan den Dunnen
00332374 Fam2 PubMed: Tong 2021 3-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents F;M - China - - - - - chondrosarcoma see paper; ... EXT1, EXT2 - 1 5 Johan den Dunnen
00332375 Fam3 PubMed: Tong 2021 2-generation family, affected father/son, unaffected heterozygous carrier parents M - China - - - - - chondrosarcoma see paper; ... EXT1, EXT2 EXT1 1 2 Johan den Dunnen
00332376 Fam4 PubMed: Tong 2021 2-generation family, affected mother/son, unaffected heterozygous carrier parents F;M - China - - - - - chondrosarcoma see paper; ... EXT1, EXT2 EXT1, EXT2 2 2 Johan den Dunnen
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