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Details
Link-It Detail - Human Phenotype - Abnormality of the musculature
Debug Stats
  • ### Total Build Time: 90 ms 43.435 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 205 bytes
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  • CONCEPT_GENES gt=86 ms Completed: 86 ms rowSize= 22.457 KB
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Human Phenotype (1)
Abnormality of the musculature HP:0003011
Definition (1)
Abnormality originating in one or more muscles, i.e., of the `set of muscles of body` (FMA:72954).
Parents (2)
img Phenotypic abnormality HP:0000118
img Abnormality of the skeletal system HP:0000924
Children (51)
img Muscle abnormality related to mitochondrial dysfunction HP:0003800
img Transient swelling of muscle induced by percussion HP:0004304
img Muscular hypotonia HP:0001252
img Muscle cramps HP:0003394
img EMG abnormality HP:0003457
img Aplasia/Hypoplasia involving the musculature HP:0001460
img Positive staining for ATPase activity at pH of 4.3 HP:0003706
img Muscle hypertrophy HP:0003712
img Increased muscle glycogen content HP:0009051
img Abnormality of the musculature of the thorax HP:0009131
img Merosin-positive biopsy HP:0003708
img Abnormality of muscle fibers HP:0004303
img Flexion contracture HP:0001371
img Decreased muscle mass HP:0003199
img Involuntary movements HP:0004305
img Muscle hyperirritability HP:0003559
img Percussion myotonia HP:0010548
img Abnormality of muscle physiology HP:0011804
img Increased muscle lipid content HP:0009058
img Muscular edema HP:0100748
img Calcinosis HP:0003761
img Functional motor problems. HP:0004302
img Muscle weakness HP:0001324
img Centrally nucleated skeletal muscle fibers HP:0003687
img Abnormality of facial musculature HP:0000301
img Myotonia HP:0002486
img Enteroviral dermatomyositis syndrome HP:0003729
img Deposits immunoreactive to beta-amyloid protein HP:0003791
img Abnormal muscle tone HP:0003808
img Firm muscles HP:0003725
img Generalized muscular appearance from birth HP:0003716
img Increased muscle fatiguability HP:0003750
img Abnormality of the abdominal wall HP:0004298
img Cerebral palsy HP:0100021
img Abnormality of muscle morphology HP:0011805
img Myositis HP:0100614
img Motor delay HP:0001270
img Tetany HP:0001281
img Autophagic vacuoles HP:0003736
img Abnormality of the musculature of the pelvis HP:0001469
img Myalgia HP:0003326
img Delayed motor milestones HP:0002130
img Muscle stiffness HP:0003552
img Amyotrophy HP:0003202
img Myopathy HP:0003198
img Rhabdomyolysis HP:0003201
img Rimmed vacuoles HP:0003805
img Muscular dystrophy HP:0003560
img Decreased caveolin-3 expression on muscle biopsy HP:0003735
img Abnormality of the musculature of the limbs HP:0009127
img Abnormality of the musculature of the neck HP:0011006
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001183img Phenotypic abnormality HP:0000118
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the skeletal system HP:0000924
Genes (1421)

Species:
human : 1421
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanOPHLC101290499Omphalocele due to duplication of 1p31.3
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanSPG43101234260spastic paraplegia 43 (autosomal recessive)
img HP RolledUp, OMIM ID: 615043
HumanUSH1K101180907Usher syndrome 1K (autosomal recessive)
img HP RolledUp, OMIM ID: 614990
HumanHMSN5101059903Hereditary motor and sensory neuropathy V
img HP RolledUp, OMIM ID: 600361
HumanDEL8Q12Q21100885787Bor-Duane hydrocephalus contiguous gene syndrome
img HP IEA, OMIM ID: 600257
HumanNMLFS100885786Nablus mask-like facial syndrome
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanSCA34100750330spinocerebellar ataxia 34
img HP TAS, OMIM ID: 133190
HumanMRXS17100739996Mental retardation, X-linked, syndromic 17
img HP RolledUp, OMIM ID: 300858
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanKONDS100653373Kondoh syndrome
HumanDEL1P32P31100532738Chromosome 1p32-p31 deletion syndrome
img HP RolledUp, OMIM ID: 613735
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanFAME3100529229Epilepsy, familial adult myoclonic, 3
img HP RolledUp, OMIM ID: 613608
HumanDUP17Q21.31100529226
img HP RolledUp, OMIM ID: 613533
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003011Abnormality of the musculature0self