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Details
Link-It Detail - Human Phenotype - Abnormality of the musculature of the limbs
Debug Stats
  • ### Total Build Time: 36 ms 32.364 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 218 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 789 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.826 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 3.972 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 24.401 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.037 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the musculature of the limbs HP:0009127
Parents (2)
img Abnormality of limb bone morphology HP:0002813
img Abnormality of the musculature HP:0003011
Children (5)
img Abnormality of the musculature of the lower limbs HP:0001437
img Amyotrophy involving the extremities HP:0003671
img Generalized weakness of limb muscles HP:0009028
img Abnormality of the musculature of the upper limbs HP:0001446
img Aplasia/Hypoplasia involving the musculature of the extremities HP:0009128
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of limb bone morphology HP:0002813
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of limb bone morphology HP:0002813
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 (114)

Species:
human : 114
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanHMSN5101059903Hereditary motor and sensory neuropathy V
img HP RolledUp, OMIM ID: 600361
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanSPG38100049707spastic paraplegia 38 (autosomal dominant, Silver syndrome)
img HP RolledUp, OMIM ID: 612335
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanCMT2H619496Charcot-Marie-Tooth disease, axonal, type 2H
img HP RolledUp, OMIM ID: 607731
HumanLOC619409619409muscular dystrophy, congenital, merosin-positive
img HP RolledUp, OMIM ID: 609456
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
HumanCMTDI2387574Charcot-Marie-Tooth disease, dominant intermediate 2
img HP RolledUp, OMIM ID: 606483
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 613319
img HP RolledUp, OMIM ID: 611307
HumanFGD4121512FYVE, RhoGEF and PH domain containing 4
img HP RolledUp, OMIM ID: 609311
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211530
HumanSLC39A1391252solute carrier family 39 (zinc transporter), member 13
img HP RolledUp, OMIM ID: 612350
HumanLRSAM190678leucine rich repeat and sterile alpha motif containing 1
img HP RolledUp, OMIM ID: 614436
HumanSBF281846SET binding factor 2
img HP RolledUp, OMIM ID: 604563
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
img HP RolledUp, OMIM ID: 604360
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
img HP RolledUp, OMIM ID: 601596
HumanFA2H79152fatty acid 2-hydroxylase
img HP RolledUp, OMIM ID: 612319
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 607155
img HP RolledUp, OMIM ID: 606612
HumanINF264423inverted formin, FH2 and WH2 domain containing
img HP RolledUp, OMIM ID: 614455
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 181405
img HP RolledUp, OMIM ID: 606071
img HP RolledUp, OMIM ID: 600175
HumanPRX57716periaxin
img HP RolledUp, OMIM ID: 145900
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
img HP RolledUp, OMIM ID: 205100
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0009127Abnormality of the musculature of the limbs0self