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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:Abnormality of the musculature of the thigh
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Accession:HP:0001441 term browser browse the term
Synonyms:exact_synonym: Abnormal thigh muscles
 xref: UMLS:C4025783



show annotations for term's descendants           Sort by:
 
Proximal lower limb amyotrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP OMIM:158600 HPO NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G EMD emerin IAGP ORPHA:98863 HPO NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ORPHA:98863 HPO NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP OMIM:609115 HPO NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462
JBrowse link
G LMNA lamin A/C IAGP ORPHA:98853 ORPHA:98855 ORPHA:98856 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NEFL neurofilament light chain IAGP ORPHA:101085 HPO NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G REEP1 receptor accessory protein 1 IAGP ORPHA:101011 HPO NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
G SGCD sarcoglycan delta IAGP ORPHA:219 HPO NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ORPHA:98853 HPO NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ORPHA:98853 HPO NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ORPHA:98853 HPO NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:600175 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G 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 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
Quadriceps aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP OMIM:161200 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
Quadriceps muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP ORPHA:482601 HPO NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,229...104,747,325
JBrowse link
G ANO5 anoctamin 5 IAGP OMIM:613319 ORPHA:206549
DNA:duplications, nonsense mutation, missense mutation:exon:multiple
HPO
RGD
PMID:22742934 RGD:11570561 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
Rectus femoris muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 IAGP ORPHA:98905 HPO 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 14815
    Phenotypic abnormality 14812
      Abnormality of limbs 2376
        Abnormality of the lower limb 1757
          Abnormality of the musculature of the lower limbs 102
            Abnormality of the musculature of the thigh 19
              Aplasia/Hypoplasia of the musculature of the thigh + 1
              Proximal lower limb amyotrophy + 18
Path 2
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
            Abnormality of the musculature of the limbs 544
              Abnormality of the musculature of the lower limbs 102
                Abnormality of the musculature of the thigh 19
                  Aplasia/Hypoplasia of the musculature of the thigh + 1
                  Proximal lower limb amyotrophy + 18
paths to the root