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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:Rudimentary fibula
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Accession:HP:0006381 term browser browse the term
Definition:Absent or nearly absent fibula. (Does not include aplastic)
Synonyms:exact_synonym: Rudimentary to absent fibulae;   Small to absent calf bone;   Small to absent fibula
 alt_id: HP:0004986
 xref: UMLS:C1844706


show annotations for term's descendants           Sort by:
Rudimentary fibula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Rudimentary fibula ClinVar PMID:25741868 PMID:27141300 PMID:28492532 PMID:31680349 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:304120 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:249700 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the lower limb 1864
          Abnormality of the calf 317
            Abnormal fibula morphology 63
              Aplasia/Hypoplasia of the fibula 32
                Fibular hypoplasia 26
                  Rudimentary fibula 3
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal appendicular skeleton morphology 1997
              Abnormal limb bone morphology 1866
                Abnormal lower limb bone morphology 784
                  Aplasia/hypoplasia involving bones of the lower limbs 390
                    Aplasia/Hypoplasia of the fibula 32
                      Fibular hypoplasia 26
                        Rudimentary fibula 3
paths to the root