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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 phalanges of the 3rd finger
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Accession:HP:0009447 term browser browse the term
Synonyms:exact_synonym: Absent/small middle finger bone;   Absent/underdeveloped middle finger bone;   Hypoplastic middle finger phalanges;   Short middle finger phalanges;   Small middle finger phalanges
 alt_id: HP:0004156;   HP:0004158;   HP:0004164;   HP:0004165;   HP:0009449
 xref: UMLS:C4024356


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Absent middle phalanx of 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
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
Short middle phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 MIM:615072 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95600
    Phenotypic abnormality 95228
      Abnormality of limbs 3280
        Abnormality of the upper limb 2139
          Abnormality of the hand 1962
            Abnormal finger morphology 1355
              Abnormal finger phalanx morphology 773
                Abnormal 3rd finger phalanx morphology 7
                  Aplasia/Hypoplasia of the phalanges of the 3rd finger 4
                    Aplasia/Hypoplasia of the distal phalanx of the 3rd finger + 3
                    Aplasia/Hypoplasia of the middle phalanx of the 3rd finger + 2
                    Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger + 0
Path 2
Term Annotations click to browse term
  Human phenotype 95600
    Phenotypic abnormality 95228
      Abnormality of the musculoskeletal system 14135
        Abnormality of the skeletal system 10239
          Abnormal skeletal morphology 9727
            Abnormal appendicular skeleton morphology 2223
              Abnormal limb bone morphology 2045
                Abnormal digit morphology 1747
                  Abnormal finger morphology 1355
                    Abnormal finger phalanx morphology 773
                      Abnormal 3rd finger phalanx morphology 7
                        Aplasia/Hypoplasia of the phalanges of the 3rd finger 4
                          Aplasia/Hypoplasia of the distal phalanx of the 3rd finger + 3
                          Aplasia/Hypoplasia of the middle phalanx of the 3rd finger + 2
                          Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger + 0
paths to the root