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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:Proximal lower limb amyotrophy
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Accession:HP:0008956 term browser browse the term
Definition:Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
Synonyms:exact_synonym: Amyotrophy involving the thigh;   Amyotrophy of the thigh musculature;   Proximal lower limb muscle atrophy;   Thigh muscle atrophy;   Wasting of thigh muscle
 alt_id: HP:0003748;   HP:0008974
 xref: UMLS:C1836767

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Proximal lower limb amyotrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP HPO OMIM:158600 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G H EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G H FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G H HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		JBrowse link
G H LMNA lamin A/C IAGP HPO ORPHA:98853 ORPHA:98855 ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G H NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G H REEP1 receptor accessory protein 1 IAGP HPO ORPHA:101011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G H SGCD sarcoglycan delta IAGP HPO ORPHA:219 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G H SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G H SMN2 survival of motor neuron 2, centromeric IAGP HPO OMIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G H SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G H SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G H SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G H TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G H TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G H TTN titin IAGP ClinVar Annotator: match by term: Proximal lower limb amyotrophy ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G H TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Proximal lower limb amyotrophy ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G H VMA21 vacuolar ATPase assembly factor VMA21 IAGP HPO OMIM:310440 NCBI chr  X:151,396,595...151,409,364
Ensembl chr  X:151,396,515...151,409,364 		JBrowse link
Quadriceps muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G H ANO5 anoctamin 5 IAGP DNA:duplications, nonsense mutation, missense mutation:exon:multiple HPO
RGD		 PMID:22742934 OMIM:611307 OMIM:613319 ORPHA:206549, RGD:11570561 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G H SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:271150 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G H SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO OMIM:620285 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
Rectus femoris muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H RYR1 ryanodine receptor 1 IAGP HPO ORPHA:424107 ORPHA:597 ORPHA:98905 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of limbs 2607
        Abnormality of the lower limb 1881
          Abnormality of the musculature of the lower limbs 111
            Abnormality thigh musculature morphology 23
              Proximal lower limb amyotrophy 22
                Quadriceps muscle atrophy + 5
Path 2
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of the musculoskeletal system 4446
        Abnormality of the musculature 3223
          Abnormal skeletal muscle morphology 2023
            Abnormality of the musculature of the limbs 656
              Abnormality of the musculature of the lower limbs 111
                Abnormality thigh musculature morphology 23
                  Proximal lower limb amyotrophy 22
                    Quadriceps muscle atrophy + 5
paths to the root