Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 of the distal phalanges of the hand
go back to main search page
Accession:HP:0009881 term browser browse the term
Synonyms:exact_synonym: Absent distal phalanges of the hand;   Absent outermost hand bone;   Aplasia of outermost hand bone
 xref: UMLS:C4024173



show annotations for term's descendants           Sort by:
 
Aplasia of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ORPHA:3472 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Aplasia/hypoplasia involving bones of the upper limbs 543
            Aplasia involving bones of the upper limbs 13
              Aplasia of the phalanges of the hand 13
                Aplasia of the distal phalanges of the hand 2
                  Aplasia of the distal phalanx of the 2nd finger 0
                  Aplasia of the distal phalanx of the 3rd finger 0
                  Aplasia of the distal phalanx of the 4th finger 0
                  Aplasia of the distal phalanx of the 5th finger 0
                  Aplasia of the distal phalanx of the thumb 0
Path 2
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of the musculoskeletal system 3903
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal appendicular skeleton morphology 1768
              Abnormality of limb bone morphology 1656
                Abnormal digit morphology 1456
                  Abnormality of finger 1139
                    Abnormal finger phalanx morphology 709
                      Abnormal distal phalanx morphology of finger 183
                        Aplasia/Hypoplasia of the distal phalanges of the hand 143
                          Aplasia of the distal phalanges of the hand 2
                            Aplasia of the distal phalanx of the 2nd finger 0
                            Aplasia of the distal phalanx of the 3rd finger 0
                            Aplasia of the distal phalanx of the 4th finger 0
                            Aplasia of the distal phalanx of the 5th finger 0
                            Aplasia of the distal phalanx of the thumb 0
paths to the root