Term: | Multiple enchondromatosis |
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Accession: | HP:0005701
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browse the term
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Synonyms: | xref: | SNOMEDCT_US:268274005; UMLS:C0014084 |
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:85198 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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HIF1A |
hypoxia inducible factor 1 subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Multiple enchondromatosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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HIF1A-AS3 |
HIF1A antisense RNA 3 |
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IAGP |
ClinVar Annotator: match by term: Multiple enchondromatosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
ClinVar Annotator: match by term: Multiple enchondromatosis |
ClinVar HPO |
PMID:18772396 PMID:21446021 PMID:24728327 PMID:25043048 PMID:25741868 PMID:27993330 PMID:30231226 PMID:36201590 More...
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ORPHA:163634 ORPHA:296 ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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IAGP |
ClinVar Annotator: match by term: Multiple enchondromatosis |
ClinVar HPO |
PMID:18414213 PMID:25741868 PMID:28492532 |
ORPHA:163634 ORPHA:296 |
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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KDM4C |
lysine demethylase 4C |
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IAGP |
ClinVar Annotator: match by term: Multiple enchondromatosis |
ClinVar |
PMID:25741868 |
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NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,720,863...7,175,648
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LOC107303340 |
3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region |
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IAGP |
ClinVar Annotator: match by term: Multiple enchondromatosis |
ClinVar |
PMID:7987306 PMID:8956040 PMID:9681856 PMID:10088816 PMID:17024664 PMID:19408298 PMID:20151405 PMID:21715564 PMID:24969085 PMID:25637381 PMID:25741868 PMID:28492532 PMID:36480544 More...
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NCBI chr 3:10,142,339...10,160,352
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MAD1L1 |
mitotic arrest deficient 1 like 1 |
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IAGP |
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HPO |
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MIM:620189 |
NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243
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POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
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POLR1D |
RNA polymerase I and III subunit D |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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PTH1R |
parathyroid hormone 1 receptor |
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IAGP |
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HPO |
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ORPHA:296 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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MIM:156250 ORPHA:2499 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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VHL |
von Hippel-Lindau tumor suppressor |
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IAGP |
ClinVar Annotator: match by term: Multiple enchondromatosis |
ClinVar |
PMID:7563486 PMID:7987306 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9681856 PMID:9829911 PMID:9829912 PMID:10088816 PMID:10567493 PMID:10612827 PMID:10761708 PMID:11106358 PMID:11257211 PMID:11739384 PMID:12202531 PMID:12414898 PMID:15300849 PMID:17024664 PMID:19228690 PMID:19408298 PMID:19574279 PMID:19906784 PMID:20151405 PMID:20447124 PMID:21715564 PMID:22234250 PMID:23990664 PMID:23990666 PMID:24033266 PMID:24055113 PMID:24969085 PMID:25637381 PMID:25741868 PMID:26211615 PMID:27527340 PMID:28492532 PMID:28503092 PMID:29790589 PMID:30877234 PMID:36480544 More...
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NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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Term paths to the root
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