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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:Absent distal phalanges
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Accession:HP:0005807 term browser browse the term
Definition:Aplasia (absence) of the distal phalanges.
Synonyms:exact_synonym: Absent outermost digital bones
 xref: UMLS:C1861339



show annotations for term's descendants           Sort by:
Absent distal phalanges term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP HPO OMIM:619339 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO OMIM:614219 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO OMIM:618658 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO OMIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO OMIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21577
    Phenotypic abnormality 21566
      Abnormality of limbs 2614
        Abnormality of the upper limb 1847
          Abnormality of the hand 1675
            Abnormal finger morphology 1305
              Abnormal finger phalanx morphology 723
                Aplasia/Hypoplasia of the phalanges of the hand 234
                  Aplasia/Hypoplasia of the distal phalanges of the hand 124
                    Absent distal phalanges 7
Path 2
Term Annotations click to browse term
  Human phenotype 21577
    Phenotypic abnormality 21566
      Abnormality of the musculoskeletal system 4459
        Abnormality of the skeletal system 3691
          Abnormal skeletal morphology 3571
            Abnormal appendicular skeleton morphology 2017
              Abnormal limb bone morphology 1886
                Abnormal digit morphology 1654
                  Abnormal finger morphology 1305
                    Abnormal finger phalanx morphology 723
                      Abnormal distal phalanx morphology of finger 174
                        Aplasia/Hypoplasia of the distal phalanges of the hand 124
                          Absent distal phalanges 7
paths to the root