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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Multiple enchondromatosis
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Accession:HP:0005701 term browser browse the term
Synonyms:xref: SNOMEDCT_US:268274005;   UMLS:C0014084



show annotations for term's descendants           Sort by:
Multiple enchondromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:85198 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HIF1A-AS3 HIF1A antisense RNA 3 IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar
HPO
PMID:18772396 PMID:21446021 PMID:24728327 PMID:25043048 PMID:25741868 More... ORPHA:163634 ORPHA:296 ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 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
JBrowse link
G KDM4C lysine demethylase 4C IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:25741868 NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,720,863...7,175,648
JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:7987306 PMID:8956040 PMID:9681856 PMID:10088816 PMID:17024664 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243
JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:296 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:156250 ORPHA:2499 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:7563486 PMID:7987306 PMID:8634692 PMID:8707293 PMID:8772572 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the musculoskeletal system 11666
        Abnormality of the skeletal system 10413
          Abnormal skeletal morphology 9894
            Abnormal cartilage morphology 52
              Multiple enchondromatosis 15
Path 2
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the musculoskeletal system 11666
        Abnormality of the skeletal system 10413
          Abnormal skeletal morphology 9894
            Neoplasm of the skeletal system 148
              Enchondroma 28
                Multiple enchondromatosis 15
paths to the root