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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:Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
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Accession:HP:0009421 term browser browse the term
Synonyms:exact_synonym: Absent/small outermost middle finger bone;   Absent/underdeveloped outermost middle finger bone
 xref: UMLS:C4024374


show annotations for term's descendants           Sort by:
Aplasia of the distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Short distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79445 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of limbs 3280
        Abnormality of the upper limb 2139
          Abnormality of the hand 1962
            Abnormal finger morphology 1355
              Abnormal 3rd finger morphology 27
                Abnormal 3rd finger phalanx morphology 7
                  Abnormality of the distal phalanx of the 3rd finger 5
                    Aplasia/Hypoplasia of the distal phalanx of the 3rd finger 3
                      Aplasia of the distal phalanx of the 3rd finger 1
                      Short distal phalanx of the 3rd finger 2
Path 2
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the musculoskeletal system 14128
        Abnormality of the skeletal system 10240
          Abnormal skeletal morphology 9728
            Abnormal appendicular skeleton morphology 2223
              Abnormal limb bone morphology 2045
                Abnormal digit morphology 1747
                  Abnormal finger morphology 1355
                    Abnormal 3rd finger morphology 27
                      Abnormal 3rd finger phalanx morphology 7
                        Abnormality of the distal phalanx of the 3rd finger 5
                          Aplasia/Hypoplasia of the distal phalanx of the 3rd finger 3
                            Aplasia of the distal phalanx of the 3rd finger 1
                            Short distal phalanx of the 3rd finger 2
paths to the root