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Details
Link-It Detail - Human Phenotype - Abnormality of the musculature of the pelvis
Debug Stats
  • ### Total Build Time: 23 ms 18.739 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 219 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 798 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.133 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 3.989 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 11.441 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.038 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the musculature of the pelvis HP:0001469
Parents (2)
img Abnormality of pelvic girdle bone morphology HP:0002644
img Abnormality of the musculature HP:0003011
Children (3)
img Abnormality of the hip-girdle musculature HP:0001445
img Abnormality of the gluteal musculature HP:0001443
img Aplasia/Hypoplasia of the musculature of the pelvis HP:0001471
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of pelvic girdle bone morphology HP:0002644
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of pelvic girdle bone morphology HP:0002644
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the musculature HP:0003011
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the musculature HP:0003011
Genes (14)

Species:
human : 14
SpeciesGeneGeneIdGene NameEvidence
HumanLGMD1G553991limb girdle muscular dystrophy 1G (autosomal dominant)
img HP RolledUp, OMIM ID: 609115
HumanLGMD1F404679limb girdle muscular dystrophy 1F (autosomal dominant)
img HP RolledUp, OMIM ID: 608423
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 611307
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 607155
HumanSMCHD123347structural maintenance of chromosomes flexible hinge domain containing 1
img HP RolledUp, OMIM ID: 158901
HumanTRIM3222954tripartite motif containing 32
img HP RolledUp, OMIM ID: 254110
HumanDNAJB610049DnaJ (Hsp40) homolog, subfamily B, member 6
img HP RolledUp, OMIM ID: 603511
HumanMYOT9499myotilin
img HP RolledUp, OMIM ID: 159000
HumanLGMD1D9186limb girdle muscular dystrophy 1D (autosomal dominant)
img HP RolledUp, OMIM ID: 603511
HumanVCP7415valosin containing protein
img HP RolledUp, OMIM ID: 167320
HumanSGCB6443sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
img HP RolledUp, OMIM ID: 604286
HumanPGM15236phosphoglucomutase 1
img HP RolledUp, OMIM ID: 612934
HumanLMNA4000lamin A/C
img HP RolledUp, OMIM ID: 159001
HumanFSHMD1B2490facioscapulohumeral muscular dystrophy 1B
img HP RolledUp, OMIM ID: 158901
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001469Abnormality of the musculature of the pelvis0self