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Pathways

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 middle phalanx of the 4th finger
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Accession:HP:0009299 term browser browse the term
Synonyms:exact_synonym: Absent/small middle ring finger bone;   Absent/underdeveloped middle ring finger bone
 xref: UMLS:C4024459



show annotations for term's descendants           Sort by:
Short middle phalanx of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:615072 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO OMIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775
JBrowse link
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21487
    Phenotypic abnormality 21477
      Abnormality of limbs 2552
        Abnormality of the upper limb 1821
          Abnormality of the hand 1657
            Abnormal finger morphology 1257
              Abnormal 4th finger morphology 25
                Abnormal 4th finger phalanx morphology 9
                  Abnormality of the middle phalanx of the 4th finger 3
                    Aplasia/Hypoplasia of the middle phalanx of the 4th finger 3
                      Absent middle phalanx of 4th finger 0
                      Short middle phalanx of the 4th finger 3
Path 2
Term Annotations click to browse term
  Human phenotype 21487
    Phenotypic abnormality 21477
      Abnormality of the musculoskeletal system 4433
        Abnormality of the skeletal system 3608
          Abnormal skeletal morphology 3483
            Abnormal appendicular skeleton morphology 1955
              Abnormal limb bone morphology 1826
                Abnormal digit morphology 1601
                  Abnormal finger morphology 1257
                    Abnormal 4th finger morphology 25
                      Abnormal 4th finger phalanx morphology 9
                        Abnormality of the middle phalanx of the 4th finger 3
                          Aplasia/Hypoplasia of the middle phalanx of the 4th finger 3
                            Absent middle phalanx of 4th finger 0
                            Short middle phalanx of the 4th finger 3
paths to the root