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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 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 MIM: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 MIM: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 MIM: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 73835
    Phenotypic abnormality 73530
      Abnormality of limbs 3147
        Abnormality of the upper limb 2085
          Abnormality of the hand 1911
            Abnormal finger morphology 1353
              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 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormality of the skeletal system 8608
          Abnormal skeletal morphology 8024
            Abnormal appendicular skeleton morphology 2150
              Abnormal limb bone morphology 1982
                Abnormal digit morphology 1703
                  Abnormal finger morphology 1353
                    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