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Details
Link-It Detail - Human Phenotype - Abnormality of the peripheral nervous system
Debug Stats
  • ### Total Build Time: 63 ms 36.477 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 219 bytes
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  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.038 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the peripheral nervous system HP:0000759
Definition (1)
The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves.
Parents (1)
img Abnormality of the nervous system HP:0000707
Children (37)
img Decreased size of nerve terminals HP:0003443
img Progressive axonal neuropathy with demyelinization on electroneurography HP:0003157
img Hypocalcemic tetany HP:0003472
img Upper limb muscle weakness HP:0003484
img Thenar muscle weakness HP:0003427
img Abnormality of the sense of smell HP:0004408
img Fatigable weakness HP:0003473
img Vocal cord paresis HP:0001604
img Abnormality of peripheral nerve conduction HP:0003134
img Enhanced neurotoxicity of vincristine HP:0003009
img Neoplasm of the peripheral nervous system HP:0100007
img Distal limb muscle weakness HP:0003497
img Abnormality of taste sensation HP:0000223
img Abnormality of the neuromuscular junction HP:0003398
img First dorsal interossei muscle atrophy HP:0003426
img Upper limb weakness and atrophy predominates HP:0003471
img Thenar muscle atrophy HP:0003393
img Peripheral nerve compression HP:0003406
img Proximal muscle involvement may occur HP:0003475
img Cranial nerve involvement HP:0003480
img Schwannoma HP:0100008
img Diffuse axonal swelling HP:0003405
img Abnormality of the lower motor neuron HP:0002366
img Muscle cramps HP:0003394
img Reduced tendon reflexes HP:0001315
img Peripheral axonal degeneration HP:0000764
img Abnormality of the anterior horn cell HP:0006802
img Lower limbs more affected than upper limbs HP:0003483
img First dorsal interossei muscle weakness HP:0003392
img Neuropathy HP:0003407
img Amyloidosis of peripheral nerves HP:0100292
img Decreased nerve conduction velocity HP:0000762
img Onion bulb formation HP:0003383
img Abnormal peripheral myelination HP:0003130
img Cold-induced muscle cramps HP:0003449
img Hypertrophic nerve changes HP:0003382
img Peripheral neuropathy HP:0009830
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the nervous system HP:0000707
Genes (596)

Species:
human : 596
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SpeciesGeneGeneIdGene NameEvidence
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanHMSN5101059903Hereditary motor and sensory neuropathy V
img HP RolledUp, OMIM ID: 600361
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanDEL17Q11.2100852404
HumanSCAR12100820764Spinocerebellar ataxia, autosomal recessive 12
img HP RolledUp, OMIM ID: 614322
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanSCA34100750330spinocerebellar ataxia 34
img HP RolledUp, OMIM ID: 133190
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanDEL16P12.1P11.2100526742
HumanIH100188864Hemihypertrophy
img HP RolledUp, OMIM ID: 235000
HumanWM1100188787Macroglobulinemia, Waldenstrom, susceptibility to, 1
img HP RolledUp, OMIM ID: 153600
HumanCD24100133941CD24 molecule
img HP RolledUp, OMIM ID: 126200
HumanSPG38100049707spastic paraplegia 38 (autosomal dominant, Silver syndrome)
img HP RolledUp, OMIM ID: 612335
HumanSPG37100049159spastic paraplegia 37 (autosomal dominant)
img HP RolledUp, OMIM ID: 611945
HumanSNORD116-1100033413
HumanSPG36791228spastic paraplegia 36 (autosomal dominant)
img HP RolledUp, OMIM ID: 613096
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
HumanCHMRQ780925Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
HumanAUNX1751798auditory neuropathy, X-linked recessive 1
img HP RolledUp, OMIM ID: 300614
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanSCAR7727719spinocerebellar ataxia, autosomal recessive 7
img HP RolledUp, OMIM ID: 609270
HumanSCAX3727715spinocerebellar ataxia, X-linked 3
img HP RolledUp, OMIM ID: 301790
HumanSPG34724110spastic paraplegia 34 (autosomal dominant)
img HP RolledUp, OMIM ID: 300750
HumanATXN8724066ataxin 8
img HP RolledUp, OMIM ID: 608768
HumanPARK12677662Parkinson disease 12 (susceptibility)
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000759Abnormality of the peripheral nervous system0self