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Details
Link-It Detail - Human Phenotype - Abnormality of muscle physiology
Debug Stats
  • ### Total Build Time: 57 ms 24.547 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 207 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 200 bytes
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  • CONCEPT_GENES gt=57 ms Completed: 57 ms rowSize= 16.570 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of muscle physiology HP:0011804
Definition (1)
A functional abnormality of a skeletal muscle.
Parents (1)
img Abnormality of the musculature HP:0003011
Children (12)
img Muscle cramps HP:0003394
img EMG abnormality HP:0003457
img Involuntary movements HP:0004305
img Muscle hyperirritability HP:0003559
img Functional motor problems. HP:0004302
img Muscle weakness HP:0001324
img Myotonia HP:0002486
img Abnormal muscle tone HP:0003808
img Increased muscle fatiguability HP:0003750
img Tetany HP:0001281
img Myalgia HP:0003326
img Muscle stiffness HP:0003552
Ancestral Roots
RootRoot Plus OneDepthParent
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 (1076)

Species:
human : 1076
Page Size
Current 25
  Page 1 of 44
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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
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
HumanDUPXQ27.3Q28100874533
HumanCATMANS100862706Catel-Manzke syndrome
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanDEL17Q11.2100852404
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanSCA34100750330spinocerebellar ataxia 34
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL3PTERP251006533853p- syndrome
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanFAME3100529229Epilepsy, familial adult myoclonic, 3
HumanDUP17Q21.31100529226
HumanDER22T11-22100529146
HumanDEL4Q21100528026Chromosome 4q21 deletion syndrome
HumanDEL16P12.1P11.2100526742
HumanOCLN100506658occludin
HumanDEL14Q11Q22100505392Chromosome 14q11-q22 deletion syndrome
img HP RolledUp, OMIM ID: 613457
HumanDEL6Q24Q25100505391Chromosome 6q25-q25 deletion syndrome
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
HumanAMMEC100499260Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011804Abnormality of muscle physiology0self