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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:Shortening of all phalanges of fingers
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Accession:HP:0011910 term browser browse the term
Definition:Abnormal reduction in length affecting all phalanges.
Synonyms:exact_synonym: Shortening of all finger bones
 xref: UMLS:C4023133



show annotations for term's descendants           Sort by:
 
Shortening of all phalanges of fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Shortening of all finger bones ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Shortening of all finger bones ClinVar PMID:25741868 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP OMIM:114290 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Abnormality of the hand 1502
            Abnormality of finger 1139
              Abnormal finger phalanx morphology 709
                Aplasia/Hypoplasia of the phalanges of the hand 239
                  Short phalanx of finger 208
                    Shortening of all phalanges of fingers 4
Path 2
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of the musculoskeletal system 3903
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal appendicular skeleton morphology 1768
              Abnormality of limb bone morphology 1656
                Abnormal digit morphology 1456
                  Abnormality of finger 1139
                    Abnormal finger phalanx morphology 709
                      Aplasia/Hypoplasia of the phalanges of the hand 239
                        Short phalanx of finger 208
                          Shortening of all phalanges of fingers 4
paths to the root