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Details
Link-It Detail - Human Phenotype - Abnormality of the nervous system
Debug Stats
  • ### Total Build Time: 170 ms 39.237 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 208 bytes
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  • CONCEPT_CHILDREN gt=19 ms Completed: 19 ms rowSize= 12.158 KB
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  • CONCEPT_GENES gt=144 ms Completed: 144 ms rowSize= 23.795 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.027 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the nervous system HP:0000707
Definition (1)
The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.
Parents (1)
img Phenotypic abnormality HP:0000118
Children (38)
img Hypothermia HP:0002045
img Neuronal loss HP:0002400
img Muscular hypotonia HP:0001252
img Abnormality of the central nervous system HP:0002011
img Postural instability HP:0002172
img Reduced tendon reflexes HP:0001315
img Vertigo HP:0002321
img Foot drop HP:0003377
img Abnormality of neuronal migration HP:0002269
img Spasmodic torticollis HP:0000473
img Hyperkinesis HP:0002487
img Lower limb atrophy HP:0006975
img Easy fatigability HP:0003388
img Weakness HP:0002309
img Neurodegeneration HP:0002180
img Abnormality of the peripheral nervous system HP:0000759
img Parkinsonism HP:0001300
img Muscle weakness HP:0001324
img Myotonia HP:0002486
img Abnormal myelination HP:0002520
img Recurrent meningitis HP:0006946
img Poor mobility HP:0002481
img Slurred speech HP:0001350
img Neurophysiological abnormality HP:0001311
img Abnormality of movement HP:0100022
img Orthostatic hypotension HP:0001278
img Tetany HP:0001281
img Neoplasm of the nervous system HP:0004375
img Abnormality of the autonomic nervous system HP:0002270
img Poor head control HP:0002421
img Heterotopias/abnormal migration HP:0007317
img Mask-like facies HP:0000298
img Behavioural/Psychiatric Abnormality HP:0000708
img Abnormal neurological laboratory findings HP:0003129
img Abnormality of the sensory nervous system HP:0001333
img Dysphagia HP:0002015
img Amyotrophy HP:0003202
img Impaired thermal sensitivity HP:0006901
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001183img Phenotypic abnormality HP:0000118
Genes (2457)

Species:
human : 2457
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanCORD17101409267cone rod dystrophy 17 (autosomal dominant)
img HP RolledUp, OMIM ID: 615163
HumanFAME4101409188Epilepsy, familial adult myoclonic, 4
img HP RolledUp, OMIM ID: 615127
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
HumanNYS7101055624Nystagmus 7, congenital
img HP RolledUp, OMIM ID: 614826
HumanDUP16P11.2100909384
img HP RolledUp, OMIM ID: 614671
HumanDELXQ21100887743Choroideremia, deafness, and mental retardation
img HP RolledUp, OMIM ID: 303110
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanDEL8Q12Q21100885787Bor-Duane hydrocephalus contiguous gene syndrome
img HP RolledUp, OMIM ID: 600257
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDYT21100885773dystonia 21, torsion (autosomal dominant)
img HP RolledUp, OMIM ID: 614588
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanC16DELQ22100874527Chromosome 16q22 deletion syndrome
img HP RolledUp, OMIM ID: 614541
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
HumanMRT31100852399Mental retardation, autosomal recessive 31
img HP RolledUp, OMIM ID: 614329
HumanSCAR12100820764Spinocerebellar ataxia, autosomal recessive 12
img HP RolledUp, OMIM ID: 614322
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanCCCSX100820758Cerebral-cerebellar-coloboma syndrome, X-linked
img HP RolledUp, OMIM ID: 300864
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000707Abnormality of the nervous system0self