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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 5th finger
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Accession:HP:0009239 term browser browse the term
Synonyms:exact_synonym: Absent/small outermost bone of little finger;   Absent/small outermost bone of pinkie finger;   Absent/small outermost bone of pinky finger;   Absent/underdeveloped outermost bone of pinky finger
 xref: UMLS:C4024507


show annotations for term's descendants           Sort by:
Short distal phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
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 ERI1 exoribonuclease 1 IAGP HPO MIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:180860 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO MIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:180860 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO MIM:614608 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		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 5th finger morphology 547
                Abnormal 5th finger phalanx morphology 60
                  Abnormality of the distal phalanx of the 5th finger 36
                    Aplasia/Hypoplasia of the distal phalanx of the 5th finger 7
                      Aplasia of the distal phalanx of the 5th finger 0
                      Short distal phalanx of the 5th finger 7
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 5th finger morphology 547
                      Abnormal 5th finger phalanx morphology 60
                        Abnormality of the distal phalanx of the 5th finger 36
                          Aplasia/Hypoplasia of the distal phalanx of the 5th finger 7
                            Aplasia of the distal phalanx of the 5th finger 0
                            Short distal phalanx of the 5th finger 7
paths to the root