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Details
Link-It Detail - Human Phenotype - Abnormality of muscle morphology
Debug Stats
  • ### Total Build Time: 51 ms 29.699 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 207 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
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  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 451 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 4.845 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.098 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=40 ms Completed: 40 ms rowSize= 20.943 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.026 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of muscle morphology HP:0011805
Parents (1)
img Abnormality of the musculature HP:0003011
Children (15)
img Calcinosis HP:0003761
img Firm muscles HP:0003725
img Generalized muscular appearance from birth HP:0003716
img Myositis HP:0100614
img Amyotrophy HP:0003202
img Myopathy HP:0003198
img Rhabdomyolysis HP:0003201
img Muscular dystrophy HP:0003560
img Aplasia/Hypoplasia involving the musculature HP:0001460
img Muscle hypertrophy HP:0003712
img Abnormality of muscle fibers HP:0004303
img Flexion contracture HP:0001371
img Decreased muscle mass HP:0003199
img Intramuscular hematoma HP:0012233
img Muscular edema HP:0100748
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 (714)

Species:
human : 714
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanSPG43101234260spastic paraplegia 43 (autosomal recessive)
img HP RolledUp, OMIM ID: 615043
HumanHMSN5101059903Hereditary motor and sensory neuropathy V
HumanNMLFS100885786Nablus mask-like facial syndrome
HumanCATMANS100862706Catel-Manzke syndrome
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanKONDS100653373Kondoh syndrome
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDEL6Q24Q25100505391Chromosome 6q25-q25 deletion syndrome
img HP RolledUp, OMIM ID: 612863
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanCAMPD1100381210Camptodactyly 1
img HP RolledUp, OMIM ID: 114200
HumanSPG45100322879spastic paraplegia 45 (autosomal recessive)
img HP RolledUp, OMIM ID: 613162
HumanDEL2P16.1-P15100240740
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDUP1Q21100217371Chromosome 1q21.1 duplication syndrome
img HP RolledUp, OMIM ID: 612475
HumanIH100188864Hemihypertrophy
img HP RolledUp, OMIM ID: 235000
HumanDUP3Q29100188862chromosome 3q29 microduplication syndrome
img HP RolledUp, OMIM ID: 611936
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanMRT5100188831mental retardation, non-syndromic, autosomal recessive, 5
img HP RolledUp, OMIM ID: 611091
HumanCFTDX100188765Myopathy, congenital, with fiber-type disproportion, X-linked
img HP RolledUp, OMIM ID: 300580
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
HumanSAX2100126095spastic ataxia 2 (autosomal recessive)
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011805Abnormality of muscle morphology0self