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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 skeletal anomalies
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Accession:HP:0005775 term browser browse the term
Synonyms:xref: UMLS:C4025138


show annotations for term's descendants           Sort by:
Multiple skeletal anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP DNA:missense mutation:cds:p.G74D RGD PMID:18985159 RGD:11553861 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO MIM:255995 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		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
            Skeletal dysplasia 234
              Multiple skeletal anomalies 5
paths to the root