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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:Amyoplasia
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Accession:HP:0003634 term browser browse the term
Definition:Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.
Synonyms:exact_synonym: Absent muscles since birth;   Congenital absence of muscles
 alt_id: HP:0008990
 xref: SNOMEDCT_US:205532005;   UMLS:C0432185


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Amyoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:253290 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO OMIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:253290 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:181405 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the musculoskeletal system 4447
        Abnormality of the musculature 3222
          Abnormal skeletal muscle morphology 2022
            Abnormality of muscle size 745
              Aplasia/Hypoplasia involving the skeletal musculature 51
                Aplasia of the musculature 11
                  Amyoplasia 4
paths to the root