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Details
Link-It Detail - Human Phenotype - Abnormality of the central nervous system
Debug Stats
  • ### Total Build Time: 180 ms 54.043 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 216 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 213 bytes
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  • CONCEPT_CHILDREN gt=39 ms Completed: 39 ms rowSize= 27.082 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.169 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=133 ms Completed: 133 ms rowSize= 23.750 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the central nervous system HP:0002011
Definition (1)
An abnormality of the `central nervous system` (FMA:55675).
Parents (1)
img Abnormality of the nervous system HP:0000707
Children (84)
img Abnormality of the pyramidal tracts HP:0002062
img Rigidity HP:0002063
img Neuronal loss in central nervous system HP:0002529
img Abnormality of the cerebrospinal fluid HP:0002921
img Abnormality of the cranial nerves HP:0001291
img Abnormality of the cerebellum HP:0001317
img Horner syndrome HP:0002277
img Global developmental delay HP:0001263
img Neurological speech impairment HP:0002167
img Pseudobulbar signs HP:0002200
img Encephalitis HP:0002383
img Abnormality of the hypothalamus HP:0002443
img Astrocytosis HP:0002446
img Bradykinesia HP:0002067
img Headache HP:0002315
img Reduced consciousness/confusion HP:0004372
img Neurophysiological abnormality HP:0001311
img Abnormality of cognition HP:0002302
img Sleep disturbance HP:0002360
img Agnosia HP:0010524
img Abnormality of the diencephalon HP:0010662
img Cerebral palsy HP:0100021
img Abnormality of the meninges HP:0010651
img Abnormality of balance HP:0100683
img Abnormality of higher mental function HP:0011446
img Abnormality of central sensory function HP:0011730
img Intracranial cystic lesion HP:0010576
img Memory impairment HP:0002354
img Incoordination HP:0002311
img Tetraplegia HP:0002445
img Abnormality of the cerebrum HP:0002060
img Abnormality of the spinal cord HP:0002143
img Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord HP:0002405
img Dyscalculia HP:0002442
img Kernicterus HP:0001343
img Hypertonicity HP:0002388
img Paralysis due to lesions of the principle motor tracts HP:0010549
img Cognitive impairment HP:0100543
img Neoplasm of the central nervous system HP:0100006
img Abnormal CNS myelination HP:0011400
img Hypertonia HP:0001276
img Psychomotor developmental delay HP:0001255
img Choreoathetosis HP:0001266
img Abnormality of the cerebral ventricles HP:0002118
img Meningitis HP:0001287
img Atrophy/Degeneration affecting the central nervous system HP:0007367
img Low intelligence HP:0001286
img Stroke HP:0001297
img Hyperreflexia HP:0001347
img Lesions characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation HP:0002413
img Aplasia/Hypoplasia involving the central nervous system HP:0002977
img Encephalopathy HP:0001298
img Dystonia HP:0001332
img Neurofibrillary tangles HP:0002185
img Poor motor coordination HP:0002275
img Gray matter heterotopias HP:0002281
img Cataplexy HP:0002524
img Parkinsonism with favorable response to dopaminergic medication HP:0002548
img Abnormality of the glial cells HP:0100705
img Abnormality of the forebrain HP:0100547
img Phonophobia HP:0002183
img Apraxia HP:0002186
img Alzheimer disease HP:0002511
img Calcification of the small brain vessels HP:0002504
img Seizures HP:0001250
img Spasticity HP:0001257
img Mental deterioration HP:0001268
img Abnormality of extrapyramidal motor function HP:0002071
img Intracranial hemorrhage HP:0002170
img Gliosis HP:0002171
img Developmental regression HP:0002376
img Exaggerated startle response HP:0002267
img Olfactory lobe agenesis HP:0001341
img Tetraparesis HP:0002273
img Hepatic encephalopathy HP:0002480
img Increased intracranial pressure HP:0002516
img Cerebral dysmyelination HP:0007266
img Morphological abnormality of the central nervous system HP:0007319
img Abnormality of the brainstem HP:0002363
img Abnormality of the midbrain HP:0002418
img Abnormality of the motor neurons HP:0002450
img Abnormality of central motor function HP:0011442
img CNS infection HP:0011450
img Senile plaques HP:0100256
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the nervous system HP:0000707
Genes (2256)

Species:
human : 2256
Page Size
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Current 1
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
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
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002011Abnormality of the central nervous system0self