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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 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 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 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 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 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 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 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16463
    Phenotypic abnormality 16461
      Abnormality of limbs 2484
        Abnormality of the upper limb 1772
          Abnormality of the hand 1612
            Abnormal finger morphology 1219
              Abnormal finger phalanx morphology 670
                Aplasia/Hypoplasia of the phalanges of the hand 228
                  Aplasia/Hypoplasia of the distal phalanges of the hand 124
                    Absent distal phalanges 7
Path 2
Term Annotations click to browse term
  Human phenotype 16463
    Phenotypic abnormality 16461
      Abnormality of the musculoskeletal system 4320
        Abnormality of the skeletal system 3490
          Abnormal skeletal morphology 3371
            Abnormal appendicular skeleton morphology 1912
              Abnormality of limb bone morphology 1783
                Abnormal digit morphology 1568
                  Abnormal finger morphology 1219
                    Abnormal finger phalanx morphology 670
                      Abnormal distal phalanx morphology of finger 169
                        Aplasia/Hypoplasia of the distal phalanges of the hand 124
                          Absent distal phalanges 7
paths to the root