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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:Digital constriction ring
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Accession:HP:0010491 term browser browse the term
Definition:A narrow segment of significantly reduced circumference of a digit.
Comment:The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit.
Synonyms:exact_synonym: Amniotic constriction rings of digits
 xref: UMLS:C4021261


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Digital constriction ring term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:1010 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G LORICRIN loricrin cornified envelope precursor protein IAGP HPO ORPHA:79395 NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of prenatal development or birth 1206
        Abnormalities of placenta or umbilical cord 128
          Abnormal placental membrane morphology 14
            Amniotic constriction ring 11
              Digital constriction ring 2
paths to the root