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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:Fatty replacement of skeletal muscle
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Accession:HP:0012548 term browser browse the term
Definition:Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
Comment:Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography.
Synonyms:exact_synonym: Skeletal muscle fatty infiltration
 xref: UMLS:C4021082



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Fatty replacement of skeletal muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP ORPHA:206549
ClinVar Annotator: match by term: Fatty replacement of skeletal muscle
HPO
ClinVar
PMID:22499103 PMID:25741868 PMID:26886200 PMID:27447704 PMID:27911336 More... NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G ANXA11 annexin A11 IAGP OMIM:619733 HPO NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572
JBrowse link
G CFL2 cofilin 2 IAGP OMIM:610687 HPO NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ORPHA:370980 HPO NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP ORPHA:34516 HPO NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439
JBrowse link
G FKRP fukutin related protein IAGP ORPHA:370980 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP ORPHA:370980 HPO NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 IAGP OMIM:255100 HPO NCBI chr 1:154,983,344...154,993,111
Ensembl chr 1:154,983,338...154,993,111
JBrowse link
G FXR1 FMR1 autosomal homolog 1 IAGP OMIM:618823 HPO NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753
JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP OMIM:618940 HPO NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ORPHA:602 HPO NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP ORPHA:52430 HPO NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP ORPHA:52430 HPO NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP OMIM:613204 HPO NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
JBrowse link
G MYH14 myosin heavy chain 14 IAGP ORPHA:397744 HPO NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
JBrowse link
G MYOT myotilin IAGP ORPHA:266
ClinVar Annotator: match by term: Fatty replacement of skeletal muscle
HPO
ClinVar
PMID:12428213 PMID:15111675 PMID:25741868 PMID:28492532 PMID:30055862 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
JBrowse link
G NEB nebulin IAGP OMIM:256030 HPO NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G PKD2L2-DT PKD2L2 divergent transcript IAGP ClinVar Annotator: match by term: Fatty replacement of skeletal muscle ClinVar PMID:12428213 PMID:15111675 PMID:25741868 PMID:28492532 PMID:30055862 NCBI chr 5:137,853,811...137,889,319 JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ORPHA:98908 HPO NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ORPHA:370980 HPO NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G POPDC3 popeye domain containing 3 IAGP OMIM:618848 HPO NCBI chr 6:105,157,900...105,180,014
Ensembl chr 6:105,157,900...105,180,014
JBrowse link
G SECISBP2 SECIS binding protein 2 IAGP ORPHA:171706 HPO NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663
JBrowse link
G VCP valosin containing protein IAGP ORPHA:329478 ORPHA:52430 HPO NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14815
    Phenotypic abnormality 14812
      Abnormality of the musculoskeletal system 4083
        Abnormality of the musculature 2920
          Abnormal skeletal muscle morphology 1852
            Fatty replacement of skeletal muscle 23
paths to the root