Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system morphology (HP:0012639)help
Parent Node:
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Abnormal peripheral nervous system morphology (HP:0000759)help
..Starting node
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Peripheral neuropathy (HP:0009830)help
Term ID: 9830
Name: Peripheral neuropathy
Synonym: Neuropathy; Peripheral nerve damage; Peripheral neuritis
Definition: Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Comments:
Reference: HP:0009830
Genes and Diseases:
 
       Child Nodes:
........expandSensory neuropathy (HP:0000763) help
................... HP:0003390 Sensory axonal neuropathy
................... HP:0003401 Paresthesia
................... HP:0003409 Distal sensory impairment of all modalities
................... HP:0003434 Sensory ataxic neuropathy
................... HP:0007067 Distal peripheral sensory neuropathy
................... HP:0100963 Hyperesthesia
........expandPolyneuropathy (HP:0001271) help
........expandChronic sensorineural polyneuropathy (HP:0001301) help
........expandSensory impairment (HP:0003474) help
................... HP:0002495 Impaired vibratory sensation
................... HP:0002936 Distal sensory impairment
................... HP:0010829 Impaired temperature sensation
................... HP:0010830 Impaired tactile sensation
................... HP:0010831 Impaired proprioception
................... HP:0010832 Abnormality of pain sensation
................... HP:0010835 Dissociated sensory loss
........expandPeripheral axonal neuropathy (HP:0003477) help
................... HP:0003390 Sensory axonal neuropathy
................... HP:0007002 Motor axonal neuropathy
................... HP:0007267 Chronic axonal neuropathy
........expandAcute episodes of neuropathic symptoms (HP:0003489) help
........expandSensorimotor polyneuropathy affecting arms more than legs (HP:0006865) help
........expandCongenital peripheral neuropathy (HP:0006903) help
........expandEpisodic peripheral neuropathy (HP:0006949) help
........expandDemyelinating peripheral neuropathy (HP:0007108) help
................... HP:0007131 Acute demyelinating polyneuropathy
................... HP:0007220 Demyelinating motor neuropathy
................... HP:0011402 Demyelinating sensory neuropathy
........expandProgressive peripheral neuropathy (HP:0007133) help
........expandSensorimotor neuropathy (HP:0007141) help
........expandMotor polyneuropathy (HP:0007178) help
................... HP:0007220 Demyelinating motor neuropathy
........expandMixed demyelinating and axonal polyneuropathy (HP:0007327) help
........expandMononeuropathy (HP:0009831) help
........expandEntrapment neuropathy (HP:0012181) help
................... HP:0012185 Constrictive median neuropathy
................... HP:0012186 Entrapment neuropathy of the ulnar nerve at elbow
................... HP:0012216 Entrapment neuropathy of suprascapular nerve

 Sister Nodes: 
..expandAbnormal anterior horn cell morphology (HP:0006802) help
..expandAbnormal cranial nerve morphology (HP:0001291) help
..expandAbnormal lower motor neuron morphology (HP:0002366) help
..expandAbnormal peripheral myelination (HP:0003130) help
..expandAbnormality of peripheral nerves (HP:0045010) help
..expandDecreased size of nerve terminals (HP:0003443) help
..expandDiffuse axonal swelling (HP:0003405) help
..expandEnhanced neurotoxicity of vincristine (HP:0003009) help
..expandHypertrophic nerve changes (HP:0003382) help
..expandMinifascicle formation (HP:0031001) help
..expandNeoplasm of the peripheral nervous system (HP:0100007) help
..expandNeuritis (HP:0031002) help
..expandPeripheral axonal degeneration (HP:0000764) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009830HP:0009830Peripheral neuropathy0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0009830Peripheral neuropathy0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0009830Peripheral neuropathy0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0009830Peripheral neuropathy0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0009830Peripheral neuropathy0AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0009830Peripheral neuropathy0AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0009830Peripheral neuropathy0AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0009830Peripheral neuropathy0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0009830Peripheral neuropathy0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0009830Peripheral neuropathy0APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0009830Peripheral neuropathy0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0009830Peripheral neuropathy0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0009830Peripheral neuropathy0ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0009830Peripheral neuropathy0ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0009830Peripheral neuropathy0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0009830Peripheral neuropathy0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0009830Peripheral neuropathy0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0009830Peripheral neuropathy0CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0009830Peripheral neuropathy0CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0009830Peripheral neuropathy0COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0009830Peripheral neuropathy0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0009830Peripheral neuropathy0CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0009830Peripheral neuropathy0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0009830Peripheral neuropathy0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0009830Peripheral neuropathy0ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0009830Peripheral neuropathy0EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0009830Peripheral neuropathy0EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0009830Peripheral neuropathy0FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0009830Peripheral neuropathy0GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0009830Peripheral neuropathy0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0009830Peripheral neuropathy0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0009830Peripheral neuropathy0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0009830Peripheral neuropathy0HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0009830Peripheral neuropathy0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0009830Peripheral neuropathy0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0009830Peripheral neuropathy0HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0009830Peripheral neuropathy0HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0009830Peripheral neuropathy0HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0009830Peripheral neuropathy0IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0009830Peripheral neuropathy0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0009830Peripheral neuropathy0INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0009830Peripheral neuropathy0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0009830Peripheral neuropathy0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0009830Peripheral neuropathy0KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0009830Peripheral neuropathy0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0009830Peripheral neuropathy0LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0009830Peripheral neuropathy0LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0009830Peripheral neuropathy0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0009830Peripheral neuropathy0MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0009830Peripheral neuropathy0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0009830Peripheral neuropathy0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0009830Peripheral neuropathy0MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0009830Peripheral neuropathy0MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0009830Peripheral neuropathy0MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0009830Peripheral neuropathy0MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0009830Peripheral neuropathy0NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0009830Peripheral neuropathy0NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0009830Peripheral neuropathy0NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0009830Peripheral neuropathy0NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0009830Peripheral neuropathy0NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0009830Peripheral neuropathy0NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0009830Peripheral neuropathy0NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0009830Peripheral neuropathy0NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0009830Peripheral neuropathy0NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0009830Peripheral neuropathy0NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0009830Peripheral neuropathy0NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0009830Peripheral neuropathy0NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0009830Peripheral neuropathy0NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0009830Peripheral neuropathy0NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0009830Peripheral neuropathy0NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0009830Peripheral neuropathy0NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0009830Peripheral neuropathy0NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0009830Peripheral neuropathy0NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0009830Peripheral neuropathy0NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0009830Peripheral neuropathy0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0009830Peripheral neuropathy0PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0009830Peripheral neuropathy0PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0009830Peripheral neuropathy0PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0009830Peripheral neuropathy0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0009830Peripheral neuropathy0PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0009830Peripheral neuropathy0PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0009830Peripheral neuropathy0PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0009830Peripheral neuropathy0PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0009830Peripheral neuropathy0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0009830Peripheral neuropathy0PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0009830Peripheral neuropathy0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0009830Peripheral neuropathy0PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0009830Peripheral neuropathy0PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0009830Peripheral neuropathy0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0009830Peripheral neuropathy0PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0009830Peripheral neuropathy0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0009830Peripheral neuropathy0SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0009830Peripheral neuropathy0SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0009830Peripheral neuropathy0SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0009830Peripheral neuropathy0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0009830Peripheral neuropathy0SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0009830Peripheral neuropathy0SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0009830Peripheral neuropathy0SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0009830Peripheral neuropathy0SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0009830Peripheral neuropathy0SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0009830Peripheral neuropathy0SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0009830Peripheral neuropathy0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0009830Peripheral neuropathy0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0009830Peripheral neuropathy0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0009830Peripheral neuropathy0SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0009830Peripheral neuropathy0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0009830Peripheral neuropathy0SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0009830Peripheral neuropathy0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0009830Peripheral neuropathy0SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0009830Peripheral neuropathy0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0009830Peripheral neuropathy0TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0009830Peripheral neuropathy0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0009830Peripheral neuropathy0TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0009830Peripheral neuropathy0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0009830Peripheral neuropathy0TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0009830Peripheral neuropathy0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0009830Peripheral neuropathy0VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0009830Peripheral neuropathy0WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0009830Peripheral neuropathy0ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0003477Peripheral axonal neuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0006903Congenital peripheral neuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0012181Entrapment neuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0006949Episodic peripheral neuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0009831Mononeuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007178Motor polyneuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0032018Multiple mononeuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0001271Polyneuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007133Progressive peripheral neuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007141Sensorimotor neuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0000763Sensory neuropathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0003477Peripheral axonal neuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0006903Congenital peripheral neuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0012181Entrapment neuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0006949Episodic peripheral neuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0009831Mononeuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007178Motor polyneuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0032018Multiple mononeuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0001271Polyneuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007133Progressive peripheral neuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007141Sensorimotor neuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0000763Sensory neuropathy1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0003477Peripheral axonal neuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0006903Congenital peripheral neuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0012181Entrapment neuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0006949Episodic peripheral neuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0009831Mononeuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007178Motor polyneuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0032018Multiple mononeuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0001271Polyneuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007133Progressive peripheral neuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007141Sensorimotor neuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0000763Sensory neuropathy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0003477Peripheral axonal neuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0006903Congenital peripheral neuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0012181Entrapment neuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0006949Episodic peripheral neuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0009831Mononeuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007178Motor polyneuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0032018Multiple mononeuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0001271Polyneuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007133Progressive peripheral neuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007141Sensorimotor neuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0000763Sensory neuropathy1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0003477Peripheral axonal neuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0006903Congenital peripheral neuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0012181Entrapment neuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0006949Episodic peripheral neuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0009831Mononeuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007178Motor polyneuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0032018Multiple mononeuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0001271Polyneuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007133Progressive peripheral neuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007141Sensorimotor neuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0000763Sensory neuropathy1AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0003477Peripheral axonal neuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0006903Congenital peripheral neuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0012181Entrapment neuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0006949Episodic peripheral neuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0009831Mononeuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007178Motor polyneuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0032018Multiple mononeuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0001271Polyneuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007133Progressive peripheral neuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007141Sensorimotor neuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0000763Sensory neuropathy1AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0003477Peripheral axonal neuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0006903Congenital peripheral neuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0012181Entrapment neuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0006949Episodic peripheral neuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0009831Mononeuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007178Motor polyneuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0032018Multiple mononeuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0001271Polyneuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007133Progressive peripheral neuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007141Sensorimotor neuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0000763Sensory neuropathy1AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0003477Peripheral axonal neuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0006903Congenital peripheral neuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0012181Entrapment neuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0006949Episodic peripheral neuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0009831Mononeuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007178Motor polyneuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0032018Multiple mononeuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0001271Polyneuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007133Progressive peripheral neuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007141Sensorimotor neuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0000763Sensory neuropathy1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0003477Peripheral axonal neuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0006903Congenital peripheral neuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0012181Entrapment neuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0006949Episodic peripheral neuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0009831Mononeuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007178Motor polyneuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0032018Multiple mononeuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0001271Polyneuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007133Progressive peripheral neuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007141Sensorimotor neuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0000763Sensory neuropathy1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007108Demyelinating peripheral neuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0003477Peripheral axonal neuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0006903Congenital peripheral neuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0012181Entrapment neuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0006949Episodic peripheral neuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0009831Mononeuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007178Motor polyneuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0032018Multiple mononeuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0001271Polyneuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007133Progressive peripheral neuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007141Sensorimotor neuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0000763Sensory neuropathy1APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0003477Peripheral axonal neuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0006903Congenital peripheral neuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0012181Entrapment neuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0006949Episodic peripheral neuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0009831Mononeuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007178Motor polyneuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0032018Multiple mononeuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0001271Polyneuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007133Progressive peripheral neuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007141Sensorimotor neuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0000763Sensory neuropathy1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0003477Peripheral axonal neuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0006903Congenital peripheral neuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0012181Entrapment neuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0006949Episodic peripheral neuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0009831Mononeuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007178Motor polyneuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0032018Multiple mononeuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0001271Polyneuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007133Progressive peripheral neuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007141Sensorimotor neuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0000763Sensory neuropathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0003477Peripheral axonal neuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0006903Congenital peripheral neuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0012181Entrapment neuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0006949Episodic peripheral neuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0009831Mononeuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007178Motor polyneuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0032018Multiple mononeuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0001271Polyneuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007133Progressive peripheral neuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007141Sensorimotor neuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0000763Sensory neuropathy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0003477Peripheral axonal neuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0006903Congenital peripheral neuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0012181Entrapment neuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0006949Episodic peripheral neuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0009831Mononeuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007178Motor polyneuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0032018Multiple mononeuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0001271Polyneuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007133Progressive peripheral neuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007141Sensorimotor neuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0000763Sensory neuropathy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0003477Peripheral axonal neuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0006903Congenital peripheral neuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0012181Entrapment neuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0006949Episodic peripheral neuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0009831Mononeuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007178Motor polyneuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0032018Multiple mononeuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0001271Polyneuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007133Progressive peripheral neuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007141Sensorimotor neuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0000763Sensory neuropathy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0003477Peripheral axonal neuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0006903Congenital peripheral neuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0012181Entrapment neuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0006949Episodic peripheral neuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0009831Mononeuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007178Motor polyneuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0032018Multiple mononeuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0001271Polyneuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007133Progressive peripheral neuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007141Sensorimotor neuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0000763Sensory neuropathy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007108Demyelinating peripheral neuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0003477Peripheral axonal neuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0006903Congenital peripheral neuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0012181Entrapment neuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0006949Episodic peripheral neuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0009831Mononeuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007178Motor polyneuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0032018Multiple mononeuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0001271Polyneuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007133Progressive peripheral neuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007141Sensorimotor neuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0000763Sensory neuropathy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0003477Peripheral axonal neuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0006903Congenital peripheral neuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0012181Entrapment neuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0006949Episodic peripheral neuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0009831Mononeuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007178Motor polyneuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0032018Multiple mononeuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0001271Polyneuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007133Progressive peripheral neuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007141Sensorimotor neuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0000763Sensory neuropathy1CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0003477Peripheral axonal neuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0006903Congenital peripheral neuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0012181Entrapment neuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0006949Episodic peripheral neuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0009831Mononeuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007178Motor polyneuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0032018Multiple mononeuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0001271Polyneuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007133Progressive peripheral neuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007141Sensorimotor neuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0000763Sensory neuropathy1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007108Demyelinating peripheral neuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0003477Peripheral axonal neuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0006903Congenital peripheral neuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0012181Entrapment neuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0006949Episodic peripheral neuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0009831Mononeuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007178Motor polyneuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0032018Multiple mononeuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0001271Polyneuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007133Progressive peripheral neuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007141Sensorimotor neuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0000763Sensory neuropathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0003477Peripheral axonal neuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0006903Congenital peripheral neuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0012181Entrapment neuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0006949Episodic peripheral neuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0009831Mononeuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007178Motor polyneuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0032018Multiple mononeuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0001271Polyneuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007133Progressive peripheral neuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007141Sensorimotor neuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0000763Sensory neuropathy1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0003477Peripheral axonal neuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0006903Congenital peripheral neuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0012181Entrapment neuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0006949Episodic peripheral neuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0009831Mononeuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007178Motor polyneuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0032018Multiple mononeuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0001271Polyneuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007133Progressive peripheral neuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007141Sensorimotor neuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0000763Sensory neuropathy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0003477Peripheral axonal neuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0006903Congenital peripheral neuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0012181Entrapment neuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0006949Episodic peripheral neuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0009831Mononeuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007178Motor polyneuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0032018Multiple mononeuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0001271Polyneuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007133Progressive peripheral neuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007141Sensorimotor neuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0000763Sensory neuropathy1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007108Demyelinating peripheral neuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0003477Peripheral axonal neuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0006903Congenital peripheral neuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0012181Entrapment neuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0006949Episodic peripheral neuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0009831Mononeuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007178Motor polyneuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0032018Multiple mononeuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0001271Polyneuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007133Progressive peripheral neuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007141Sensorimotor neuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0000763Sensory neuropathy1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0003477Peripheral axonal neuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0006903Congenital peripheral neuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0012181Entrapment neuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0006949Episodic peripheral neuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0009831Mononeuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007178Motor polyneuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0032018Multiple mononeuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0001271Polyneuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007133Progressive peripheral neuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007141Sensorimotor neuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0000763Sensory neuropathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007108Demyelinating peripheral neuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0003477Peripheral axonal neuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0006903Congenital peripheral neuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0012181Entrapment neuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0006949Episodic peripheral neuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0009831Mononeuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007178Motor polyneuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0032018Multiple mononeuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0001271Polyneuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007133Progressive peripheral neuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007141Sensorimotor neuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0000763Sensory neuropathy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007108Demyelinating peripheral neuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0003477Peripheral axonal neuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0006903Congenital peripheral neuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0012181Entrapment neuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0006949Episodic peripheral neuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0009831Mononeuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007178Motor polyneuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0032018Multiple mononeuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0001271Polyneuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007133Progressive peripheral neuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007141Sensorimotor neuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0000763Sensory neuropathy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007108Demyelinating peripheral neuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0003477Peripheral axonal neuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0006903Congenital peripheral neuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0012181Entrapment neuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0006949Episodic peripheral neuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0009831Mononeuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007178Motor polyneuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0032018Multiple mononeuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0001271Polyneuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007133Progressive peripheral neuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007141Sensorimotor neuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0000763Sensory neuropathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007108Demyelinating peripheral neuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0003477Peripheral axonal neuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0006903Congenital peripheral neuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0012181Entrapment neuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0006949Episodic peripheral neuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0009831Mononeuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007178Motor polyneuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0032018Multiple mononeuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0001271Polyneuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007133Progressive peripheral neuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007141Sensorimotor neuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0000763Sensory neuropathy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007108Demyelinating peripheral neuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0003477Peripheral axonal neuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0006903Congenital peripheral neuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0012181Entrapment neuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0006949Episodic peripheral neuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0009831Mononeuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007178Motor polyneuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0032018Multiple mononeuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0001271Polyneuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007133Progressive peripheral neuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007141Sensorimotor neuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0000763Sensory neuropathy1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007108Demyelinating peripheral neuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0003477Peripheral axonal neuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0006903Congenital peripheral neuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0012181Entrapment neuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0006949Episodic peripheral neuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0009831Mononeuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007178Motor polyneuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0032018Multiple mononeuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0001271Polyneuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007133Progressive peripheral neuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007141Sensorimotor neuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0000763Sensory neuropathy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007108Demyelinating peripheral neuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0003477Peripheral axonal neuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0006903Congenital peripheral neuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0012181Entrapment neuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0006949Episodic peripheral neuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0009831Mononeuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007178Motor polyneuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0032018Multiple mononeuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0001271Polyneuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007133Progressive peripheral neuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007141Sensorimotor neuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0000763Sensory neuropathy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0003477Peripheral axonal neuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0006903Congenital peripheral neuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0012181Entrapment neuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0006949Episodic peripheral neuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0009831Mononeuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007178Motor polyneuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0032018Multiple mononeuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0001271Polyneuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007133Progressive peripheral neuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007141Sensorimotor neuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0000763Sensory neuropathy1HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0003477Peripheral axonal neuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0006903Congenital peripheral neuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0012181Entrapment neuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0006949Episodic peripheral neuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0009831Mononeuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007178Motor polyneuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0032018Multiple mononeuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0001271Polyneuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007133Progressive peripheral neuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007141Sensorimotor neuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0000763Sensory neuropathy1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0003477Peripheral axonal neuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0006903Congenital peripheral neuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0012181Entrapment neuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0006949Episodic peripheral neuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0009831Mononeuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007178Motor polyneuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0032018Multiple mononeuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0001271Polyneuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007133Progressive peripheral neuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007141Sensorimotor neuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0000763Sensory neuropathy1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0003477Peripheral axonal neuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0006903Congenital peripheral neuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0012181Entrapment neuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0006949Episodic peripheral neuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0009831Mononeuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007178Motor polyneuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0032018Multiple mononeuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0001271Polyneuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007133Progressive peripheral neuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007141Sensorimotor neuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0000763Sensory neuropathy1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0003477Peripheral axonal neuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0006903Congenital peripheral neuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0012181Entrapment neuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0006949Episodic peripheral neuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0009831Mononeuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007178Motor polyneuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0032018Multiple mononeuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0001271Polyneuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007133Progressive peripheral neuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007141Sensorimotor neuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0000763Sensory neuropathy1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0003477Peripheral axonal neuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0006903Congenital peripheral neuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0012181Entrapment neuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0006949Episodic peripheral neuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0009831Mononeuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007178Motor polyneuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0032018Multiple mononeuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0001271Polyneuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007133Progressive peripheral neuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007141Sensorimotor neuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0000763Sensory neuropathy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007108Demyelinating peripheral neuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0003477Peripheral axonal neuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0006903Congenital peripheral neuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0012181Entrapment neuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0006949Episodic peripheral neuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0009831Mononeuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007178Motor polyneuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0032018Multiple mononeuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0001271Polyneuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007133Progressive peripheral neuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007141Sensorimotor neuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0000763Sensory neuropathy1IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007108Demyelinating peripheral neuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0003477Peripheral axonal neuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0006903Congenital peripheral neuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0012181Entrapment neuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0006949Episodic peripheral neuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0009831Mononeuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007178Motor polyneuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0032018Multiple mononeuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0001271Polyneuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007133Progressive peripheral neuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007141Sensorimotor neuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0000763Sensory neuropathy1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007108Demyelinating peripheral neuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0003477Peripheral axonal neuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0006903Congenital peripheral neuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0012181Entrapment neuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0006949Episodic peripheral neuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0009831Mononeuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007178Motor polyneuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0032018Multiple mononeuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0001271Polyneuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007133Progressive peripheral neuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007141Sensorimotor neuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0000763Sensory neuropathy1INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007108Demyelinating peripheral neuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0003477Peripheral axonal neuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0006903Congenital peripheral neuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0012181Entrapment neuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0006949Episodic peripheral neuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0009831Mononeuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007178Motor polyneuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0032018Multiple mononeuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0001271Polyneuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007133Progressive peripheral neuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007141Sensorimotor neuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0000763Sensory neuropathy1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007108Demyelinating peripheral neuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0003477Peripheral axonal neuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0006903Congenital peripheral neuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0012181Entrapment neuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0006949Episodic peripheral neuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0009831Mononeuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007178Motor polyneuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0032018Multiple mononeuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0001271Polyneuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007133Progressive peripheral neuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007141Sensorimotor neuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0000763Sensory neuropathy1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007108Demyelinating peripheral neuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0003477Peripheral axonal neuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0006903Congenital peripheral neuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0012181Entrapment neuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0006949Episodic peripheral neuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0009831Mononeuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007178Motor polyneuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0032018Multiple mononeuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0001271Polyneuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007133Progressive peripheral neuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007141Sensorimotor neuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0000763Sensory neuropathy1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007108Demyelinating peripheral neuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0003477Peripheral axonal neuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0006903Congenital peripheral neuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0012181Entrapment neuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0006949Episodic peripheral neuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0009831Mononeuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007178Motor polyneuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0032018Multiple mononeuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0001271Polyneuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007133Progressive peripheral neuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007141Sensorimotor neuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0000763Sensory neuropathy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007108Demyelinating peripheral neuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0003477Peripheral axonal neuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0006903Congenital peripheral neuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0012181Entrapment neuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0006949Episodic peripheral neuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0009831Mononeuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007178Motor polyneuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0032018Multiple mononeuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0001271Polyneuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007133Progressive peripheral neuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007141Sensorimotor neuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0000763Sensory neuropathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007108Demyelinating peripheral neuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0003477Peripheral axonal neuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0006903Congenital peripheral neuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0012181Entrapment neuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0006949Episodic peripheral neuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0009831Mononeuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007178Motor polyneuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0032018Multiple mononeuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0001271Polyneuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007133Progressive peripheral neuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007141Sensorimotor neuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0000763Sensory neuropathy1LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0003477Peripheral axonal neuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0006903Congenital peripheral neuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0012181Entrapment neuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0006949Episodic peripheral neuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0009831Mononeuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007178Motor polyneuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0032018Multiple mononeuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0001271Polyneuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007133Progressive peripheral neuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007141Sensorimotor neuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0000763Sensory neuropathy1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0003477Peripheral axonal neuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0006903Congenital peripheral neuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0012181Entrapment neuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0006949Episodic peripheral neuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0009831Mononeuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007178Motor polyneuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0032018Multiple mononeuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0001271Polyneuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007133Progressive peripheral neuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007141Sensorimotor neuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0000763Sensory neuropathy1MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0003477Peripheral axonal neuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0006903Congenital peripheral neuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0012181Entrapment neuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0006949Episodic peripheral neuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0009831Mononeuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007178Motor polyneuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0032018Multiple mononeuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0001271Polyneuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007133Progressive peripheral neuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007141Sensorimotor neuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0000763Sensory neuropathy1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0003477Peripheral axonal neuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0006903Congenital peripheral neuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0012181Entrapment neuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0006949Episodic peripheral neuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0009831Mononeuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007178Motor polyneuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0032018Multiple mononeuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0001271Polyneuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007133Progressive peripheral neuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007141Sensorimotor neuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0000763Sensory neuropathy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0003477Peripheral axonal neuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0006903Congenital peripheral neuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0012181Entrapment neuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0006949Episodic peripheral neuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0009831Mononeuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007178Motor polyneuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0032018Multiple mononeuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0001271Polyneuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007133Progressive peripheral neuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007141Sensorimotor neuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0000763Sensory neuropathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0003477Peripheral axonal neuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0006903Congenital peripheral neuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0012181Entrapment neuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0006949Episodic peripheral neuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0009831Mononeuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007178Motor polyneuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0032018Multiple mononeuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0001271Polyneuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007133Progressive peripheral neuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007141Sensorimotor neuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0000763Sensory neuropathy1MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0003477Peripheral axonal neuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0006903Congenital peripheral neuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0012181Entrapment neuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0006949Episodic peripheral neuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0009831Mononeuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007178Motor polyneuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0032018Multiple mononeuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0001271Polyneuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007133Progressive peripheral neuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007141Sensorimotor neuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0000763Sensory neuropathy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0003477Peripheral axonal neuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0006903Congenital peripheral neuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0012181Entrapment neuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0006949Episodic peripheral neuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0009831Mononeuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007178Motor polyneuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0032018Multiple mononeuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0001271Polyneuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007133Progressive peripheral neuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007141Sensorimotor neuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0000763Sensory neuropathy1MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0003477Peripheral axonal neuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0006903Congenital peripheral neuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0012181Entrapment neuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0006949Episodic peripheral neuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0009831Mononeuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007178Motor polyneuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0032018Multiple mononeuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0001271Polyneuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007133Progressive peripheral neuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007141Sensorimotor neuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0000763Sensory neuropathy1NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0012181Entrapment neuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0009831Mononeuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007178Motor polyneuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0032018Multiple mononeuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0001271Polyneuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0000763Sensory neuropathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0012181Entrapment neuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0009831Mononeuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007178Motor polyneuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0032018Multiple mononeuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0001271Polyneuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0000763Sensory neuropathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0012181Entrapment neuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0009831Mononeuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007178Motor polyneuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0032018Multiple mononeuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0001271Polyneuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0000763Sensory neuropathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0012181Entrapment neuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0009831Mononeuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007178Motor polyneuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0032018Multiple mononeuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0001271Polyneuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0000763Sensory neuropathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0012181Entrapment neuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0009831Mononeuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007178Motor polyneuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0032018Multiple mononeuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0001271Polyneuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0000763Sensory neuropathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0012181Entrapment neuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0009831Mononeuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007178Motor polyneuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0032018Multiple mononeuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0001271Polyneuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0000763Sensory neuropathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0012181Entrapment neuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0009831Mononeuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007178Motor polyneuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0032018Multiple mononeuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0001271Polyneuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0000763Sensory neuropathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0012181Entrapment neuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0009831Mononeuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007178Motor polyneuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0032018Multiple mononeuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0001271Polyneuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0000763Sensory neuropathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0012181Entrapment neuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0009831Mononeuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007178Motor polyneuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0032018Multiple mononeuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0001271Polyneuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0000763Sensory neuropathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0012181Entrapment neuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0009831Mononeuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007178Motor polyneuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0032018Multiple mononeuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0001271Polyneuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0000763Sensory neuropathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0012181Entrapment neuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0009831Mononeuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007178Motor polyneuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0032018Multiple mononeuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0001271Polyneuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0000763Sensory neuropathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0012181Entrapment neuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0009831Mononeuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007178Motor polyneuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0032018Multiple mononeuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0001271Polyneuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0000763Sensory neuropathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0012181Entrapment neuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0009831Mononeuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007178Motor polyneuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0032018Multiple mononeuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0001271Polyneuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0000763Sensory neuropathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0012181Entrapment neuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0009831Mononeuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007178Motor polyneuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0032018Multiple mononeuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0001271Polyneuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0000763Sensory neuropathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0012181Entrapment neuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0009831Mononeuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007178Motor polyneuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0032018Multiple mononeuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0001271Polyneuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0000763Sensory neuropathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0012181Entrapment neuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0009831Mononeuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007178Motor polyneuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0032018Multiple mononeuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0001271Polyneuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0000763Sensory neuropathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0012181Entrapment neuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0009831Mononeuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007178Motor polyneuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0032018Multiple mononeuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0001271Polyneuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0000763Sensory neuropathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0003477Peripheral axonal neuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0006903Congenital peripheral neuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0012181Entrapment neuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0006949Episodic peripheral neuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0009831Mononeuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007178Motor polyneuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0032018Multiple mononeuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0001271Polyneuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007133Progressive peripheral neuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007141Sensorimotor neuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0000763Sensory neuropathy1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007108Demyelinating peripheral neuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0003477Peripheral axonal neuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0006903Congenital peripheral neuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0012181Entrapment neuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0006949Episodic peripheral neuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0009831Mononeuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007178Motor polyneuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0032018Multiple mononeuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0001271Polyneuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007133Progressive peripheral neuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007141Sensorimotor neuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0000763Sensory neuropathy1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0003477Peripheral axonal neuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0006903Congenital peripheral neuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0012181Entrapment neuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0006949Episodic peripheral neuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0009831Mononeuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007178Motor polyneuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0032018Multiple mononeuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0001271Polyneuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007133Progressive peripheral neuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007141Sensorimotor neuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0000763Sensory neuropathy1PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0003477Peripheral axonal neuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0006903Congenital peripheral neuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0012181Entrapment neuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0006949Episodic peripheral neuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0009831Mononeuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007178Motor polyneuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0032018Multiple mononeuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0001271Polyneuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007133Progressive peripheral neuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007141Sensorimotor neuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0000763Sensory neuropathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0003477Peripheral axonal neuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0006903Congenital peripheral neuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0012181Entrapment neuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0006949Episodic peripheral neuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0009831Mononeuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007178Motor polyneuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0032018Multiple mononeuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0001271Polyneuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007133Progressive peripheral neuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007141Sensorimotor neuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0000763Sensory neuropathy1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0003477Peripheral axonal neuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0006903Congenital peripheral neuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0012181Entrapment neuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0006949Episodic peripheral neuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0009831Mononeuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007178Motor polyneuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0032018Multiple mononeuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0001271Polyneuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007133Progressive peripheral neuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007141Sensorimotor neuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0000763Sensory neuropathy1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0003477Peripheral axonal neuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0006903Congenital peripheral neuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0012181Entrapment neuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0006949Episodic peripheral neuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0009831Mononeuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007178Motor polyneuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0032018Multiple mononeuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0001271Polyneuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007133Progressive peripheral neuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007141Sensorimotor neuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0000763Sensory neuropathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0003477Peripheral axonal neuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0006903Congenital peripheral neuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0012181Entrapment neuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0006949Episodic peripheral neuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0009831Mononeuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007178Motor polyneuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0032018Multiple mononeuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0001271Polyneuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007133Progressive peripheral neuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007141Sensorimotor neuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0000763Sensory neuropathy1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0003477Peripheral axonal neuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0006903Congenital peripheral neuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0012181Entrapment neuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0006949Episodic peripheral neuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0009831Mononeuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007178Motor polyneuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0032018Multiple mononeuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0001271Polyneuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007133Progressive peripheral neuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007141Sensorimotor neuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0000763Sensory neuropathy1PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0003477Peripheral axonal neuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0006903Congenital peripheral neuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0012181Entrapment neuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0006949Episodic peripheral neuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0009831Mononeuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007178Motor polyneuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0032018Multiple mononeuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0001271Polyneuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007133Progressive peripheral neuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007141Sensorimotor neuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0000763Sensory neuropathy1PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0003477Peripheral axonal neuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0006903Congenital peripheral neuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0012181Entrapment neuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0006949Episodic peripheral neuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0009831Mononeuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007178Motor polyneuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0032018Multiple mononeuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0001271Polyneuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007133Progressive peripheral neuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007141Sensorimotor neuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0000763Sensory neuropathy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0003477Peripheral axonal neuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0006903Congenital peripheral neuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0012181Entrapment neuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0006949Episodic peripheral neuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0009831Mononeuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007178Motor polyneuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0032018Multiple mononeuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0001271Polyneuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007133Progressive peripheral neuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007141Sensorimotor neuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0000763Sensory neuropathy1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0003477Peripheral axonal neuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0006903Congenital peripheral neuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0012181Entrapment neuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0006949Episodic peripheral neuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0009831Mononeuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007178Motor polyneuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0032018Multiple mononeuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0001271Polyneuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007133Progressive peripheral neuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007141Sensorimotor neuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0000763Sensory neuropathy1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0003477Peripheral axonal neuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0006903Congenital peripheral neuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0012181Entrapment neuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0006949Episodic peripheral neuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0009831Mononeuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007178Motor polyneuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0032018Multiple mononeuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0001271Polyneuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007133Progressive peripheral neuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007141Sensorimotor neuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0000763Sensory neuropathy1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0003477Peripheral axonal neuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0006903Congenital peripheral neuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0012181Entrapment neuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0006949Episodic peripheral neuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0009831Mononeuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007178Motor polyneuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0032018Multiple mononeuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0001271Polyneuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007133Progressive peripheral neuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007141Sensorimotor neuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0000763Sensory neuropathy1PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0003477Peripheral axonal neuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0006903Congenital peripheral neuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0012181Entrapment neuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0006949Episodic peripheral neuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0009831Mononeuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007178Motor polyneuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0032018Multiple mononeuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0001271Polyneuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007133Progressive peripheral neuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007141Sensorimotor neuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0000763Sensory neuropathy1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0003477Peripheral axonal neuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0006903Congenital peripheral neuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0012181Entrapment neuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0006949Episodic peripheral neuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0009831Mononeuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007178Motor polyneuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0032018Multiple mononeuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0001271Polyneuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007133Progressive peripheral neuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007141Sensorimotor neuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0000763Sensory neuropathy1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007108Demyelinating peripheral neuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0003477Peripheral axonal neuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0006903Congenital peripheral neuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0012181Entrapment neuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0006949Episodic peripheral neuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0009831Mononeuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007178Motor polyneuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0032018Multiple mononeuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0001271Polyneuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007133Progressive peripheral neuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007141Sensorimotor neuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0000763Sensory neuropathy1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0003477Peripheral axonal neuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0006903Congenital peripheral neuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0012181Entrapment neuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0006949Episodic peripheral neuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0009831Mononeuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007178Motor polyneuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0032018Multiple mononeuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0001271Polyneuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007133Progressive peripheral neuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007141Sensorimotor neuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0000763Sensory neuropathy1SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0003477Peripheral axonal neuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0006903Congenital peripheral neuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0012181Entrapment neuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0006949Episodic peripheral neuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0009831Mononeuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007178Motor polyneuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0032018Multiple mononeuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0001271Polyneuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007133Progressive peripheral neuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007141Sensorimotor neuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0000763Sensory neuropathy1SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0003477Peripheral axonal neuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0006903Congenital peripheral neuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0012181Entrapment neuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0006949Episodic peripheral neuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0009831Mononeuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007178Motor polyneuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0032018Multiple mononeuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0001271Polyneuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007133Progressive peripheral neuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007141Sensorimotor neuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0000763Sensory neuropathy1SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0003477Peripheral axonal neuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0006903Congenital peripheral neuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0012181Entrapment neuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0006949Episodic peripheral neuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0009831Mononeuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007178Motor polyneuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0032018Multiple mononeuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0001271Polyneuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007133Progressive peripheral neuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007141Sensorimotor neuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0000763Sensory neuropathy1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0003477Peripheral axonal neuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0006903Congenital peripheral neuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0012181Entrapment neuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0006949Episodic peripheral neuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0009831Mononeuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007178Motor polyneuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0032018Multiple mononeuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0001271Polyneuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007133Progressive peripheral neuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007141Sensorimotor neuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0000763Sensory neuropathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0003477Peripheral axonal neuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0006903Congenital peripheral neuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0012181Entrapment neuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0006949Episodic peripheral neuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0009831Mononeuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007178Motor polyneuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0032018Multiple mononeuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0001271Polyneuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007133Progressive peripheral neuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007141Sensorimotor neuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0000763Sensory neuropathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0003477Peripheral axonal neuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0006903Congenital peripheral neuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0012181Entrapment neuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0006949Episodic peripheral neuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0009831Mononeuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007178Motor polyneuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0032018Multiple mononeuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0001271Polyneuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007133Progressive peripheral neuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007141Sensorimotor neuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0000763Sensory neuropathy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0003477Peripheral axonal neuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0006903Congenital peripheral neuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0012181Entrapment neuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0006949Episodic peripheral neuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0009831Mononeuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007178Motor polyneuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0032018Multiple mononeuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0001271Polyneuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007133Progressive peripheral neuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007141Sensorimotor neuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0000763Sensory neuropathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0003477Peripheral axonal neuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0006903Congenital peripheral neuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0012181Entrapment neuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0006949Episodic peripheral neuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0009831Mononeuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007178Motor polyneuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0032018Multiple mononeuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0001271Polyneuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007133Progressive peripheral neuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007141Sensorimotor neuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0000763Sensory neuropathy1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0003477Peripheral axonal neuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0006903Congenital peripheral neuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0012181Entrapment neuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0006949Episodic peripheral neuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0009831Mononeuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007178Motor polyneuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0032018Multiple mononeuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0001271Polyneuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007133Progressive peripheral neuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007141Sensorimotor neuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0000763Sensory neuropathy1SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0003477Peripheral axonal neuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0006903Congenital peripheral neuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0012181Entrapment neuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0006949Episodic peripheral neuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0009831Mononeuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007178Motor polyneuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0032018Multiple mononeuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0001271Polyneuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007133Progressive peripheral neuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007141Sensorimotor neuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0000763Sensory neuropathy1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0003477Peripheral axonal neuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0006903Congenital peripheral neuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0012181Entrapment neuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0006949Episodic peripheral neuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0009831Mononeuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007178Motor polyneuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0032018Multiple mononeuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0001271Polyneuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007133Progressive peripheral neuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007141Sensorimotor neuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0000763Sensory neuropathy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0003477Peripheral axonal neuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0006903Congenital peripheral neuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0012181Entrapment neuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0006949Episodic peripheral neuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0009831Mononeuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007178Motor polyneuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0032018Multiple mononeuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0001271Polyneuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007133Progressive peripheral neuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007141Sensorimotor neuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0000763Sensory neuropathy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0003477Peripheral axonal neuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0006903Congenital peripheral neuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0012181Entrapment neuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0006949Episodic peripheral neuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0009831Mononeuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007178Motor polyneuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0032018Multiple mononeuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0001271Polyneuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007133Progressive peripheral neuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007141Sensorimotor neuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0000763Sensory neuropathy1SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0003477Peripheral axonal neuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0006903Congenital peripheral neuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0012181Entrapment neuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0006949Episodic peripheral neuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0009831Mononeuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007178Motor polyneuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0032018Multiple mononeuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0001271Polyneuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007133Progressive peripheral neuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007141Sensorimotor neuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0000763Sensory neuropathy1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0003477Peripheral axonal neuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0006903Congenital peripheral neuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0012181Entrapment neuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0006949Episodic peripheral neuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0009831Mononeuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007178Motor polyneuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0032018Multiple mononeuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0001271Polyneuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007133Progressive peripheral neuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007141Sensorimotor neuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0000763Sensory neuropathy1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0003477Peripheral axonal neuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0006903Congenital peripheral neuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0012181Entrapment neuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0006949Episodic peripheral neuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0009831Mononeuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007178Motor polyneuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0032018Multiple mononeuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0001271Polyneuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007133Progressive peripheral neuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007141Sensorimotor neuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0000763Sensory neuropathy1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0003477Peripheral axonal neuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0006903Congenital peripheral neuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0012181Entrapment neuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0006949Episodic peripheral neuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0009831Mononeuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007178Motor polyneuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0032018Multiple mononeuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0001271Polyneuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007133Progressive peripheral neuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007141Sensorimotor neuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0000763Sensory neuropathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0003477Peripheral axonal neuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0006903Congenital peripheral neuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0012181Entrapment neuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0006949Episodic peripheral neuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0009831Mononeuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007178Motor polyneuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0032018Multiple mononeuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0001271Polyneuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007133Progressive peripheral neuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007141Sensorimotor neuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0000763Sensory neuropathy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0003477Peripheral axonal neuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0006903Congenital peripheral neuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0012181Entrapment neuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0006949Episodic peripheral neuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0009831Mononeuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007178Motor polyneuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0032018Multiple mononeuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0001271Polyneuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007133Progressive peripheral neuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007141Sensorimotor neuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0000763Sensory neuropathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0003477Peripheral axonal neuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0006903Congenital peripheral neuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0012181Entrapment neuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0006949Episodic peripheral neuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0009831Mononeuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007178Motor polyneuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0032018Multiple mononeuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0001271Polyneuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007133Progressive peripheral neuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007141Sensorimotor neuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0000763Sensory neuropathy1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0003477Peripheral axonal neuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0006903Congenital peripheral neuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0012181Entrapment neuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0006949Episodic peripheral neuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0009831Mononeuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007178Motor polyneuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0032018Multiple mononeuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0001271Polyneuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007133Progressive peripheral neuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007141Sensorimotor neuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0000763Sensory neuropathy1TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0003477Peripheral axonal neuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0006903Congenital peripheral neuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0012181Entrapment neuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0006949Episodic peripheral neuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0009831Mononeuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007178Motor polyneuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0032018Multiple mononeuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0001271Polyneuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007133Progressive peripheral neuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007141Sensorimotor neuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0000763Sensory neuropathy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0003477Peripheral axonal neuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0006903Congenital peripheral neuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0012181Entrapment neuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0006949Episodic peripheral neuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0009831Mononeuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007178Motor polyneuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0032018Multiple mononeuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0001271Polyneuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007133Progressive peripheral neuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007141Sensorimotor neuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0000763Sensory neuropathy1TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0003477Peripheral axonal neuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0006903Congenital peripheral neuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0012181Entrapment neuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0006949Episodic peripheral neuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0009831Mononeuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007178Motor polyneuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0032018Multiple mononeuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0001271Polyneuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007133Progressive peripheral neuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007141Sensorimotor neuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0000763Sensory neuropathy1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007108Demyelinating peripheral neuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0003477Peripheral axonal neuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0006903Congenital peripheral neuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0012181Entrapment neuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0006949Episodic peripheral neuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0009831Mononeuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007178Motor polyneuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0032018Multiple mononeuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0001271Polyneuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007133Progressive peripheral neuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007141Sensorimotor neuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0000763Sensory neuropathy1VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007108Demyelinating peripheral neuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0003477Peripheral axonal neuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0006903Congenital peripheral neuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0012181Entrapment neuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0006949Episodic peripheral neuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0009831Mononeuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007178Motor polyneuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0032018Multiple mononeuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0001271Polyneuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007133Progressive peripheral neuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007141Sensorimotor neuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0000763Sensory neuropathy1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0003477Peripheral axonal neuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0006903Congenital peripheral neuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0012181Entrapment neuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0006949Episodic peripheral neuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0009831Mononeuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007178Motor polyneuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0032018Multiple mononeuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0001271Polyneuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007133Progressive peripheral neuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007141Sensorimotor neuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0000763Sensory neuropathy1ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007220Demyelinating motor neuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0011402Demyelinating sensory neuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007267Chronic axonal neuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007002Motor axonal neuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0003390Sensory axonal neuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0012185Constrictive median neuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0003409Distal sensory impairment of all modalities2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0003434Sensory ataxic neuropathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007220Demyelinating motor neuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0011402Demyelinating sensory neuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007267Chronic axonal neuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007002Motor axonal neuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0003390Sensory axonal neuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0012185Constrictive median neuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0003409Distal sensory impairment of all modalities2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0003434Sensory ataxic neuropathy2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007220Demyelinating motor neuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0011402Demyelinating sensory neuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007267Chronic axonal neuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007002Motor axonal neuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0003390Sensory axonal neuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0012185Constrictive median neuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0003409Distal sensory impairment of all modalities2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0003434Sensory ataxic neuropathy2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007220Demyelinating motor neuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0011402Demyelinating sensory neuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007267Chronic axonal neuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007002Motor axonal neuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0003390Sensory axonal neuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0012185Constrictive median neuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0003409Distal sensory impairment of all modalities2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0003434Sensory ataxic neuropathy2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007220Demyelinating motor neuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0011402Demyelinating sensory neuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007267Chronic axonal neuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007002Motor axonal neuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0003390Sensory axonal neuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0012185Constrictive median neuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0003409Distal sensory impairment of all modalities2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0003434Sensory ataxic neuropathy2AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007220Demyelinating motor neuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0011402Demyelinating sensory neuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007267Chronic axonal neuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007002Motor axonal neuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0003390Sensory axonal neuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0012185Constrictive median neuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0003409Distal sensory impairment of all modalities2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0003434Sensory ataxic neuropathy2AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007220Demyelinating motor neuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0011402Demyelinating sensory neuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007267Chronic axonal neuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007002Motor axonal neuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0003390Sensory axonal neuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0012185Constrictive median neuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0003409Distal sensory impairment of all modalities2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0003434Sensory ataxic neuropathy2AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007220Demyelinating motor neuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0011402Demyelinating sensory neuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007267Chronic axonal neuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007002Motor axonal neuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0003390Sensory axonal neuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0012185Constrictive median neuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0003409Distal sensory impairment of all modalities2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0003434Sensory ataxic neuropathy2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007220Demyelinating motor neuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0011402Demyelinating sensory neuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007267Chronic axonal neuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007002Motor axonal neuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0003390Sensory axonal neuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0012185Constrictive median neuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0003409Distal sensory impairment of all modalities2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0003434Sensory ataxic neuropathy2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0007131Acute demyelinating polyneuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007220Demyelinating motor neuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0011402Demyelinating sensory neuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007267Chronic axonal neuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007002Motor axonal neuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0003390Sensory axonal neuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0012185Constrictive median neuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007067Distal peripheral sensory neuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0003409Distal sensory impairment of all modalities2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0003434Sensory ataxic neuropathy2APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007220Demyelinating motor neuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0011402Demyelinating sensory neuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007267Chronic axonal neuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007002Motor axonal neuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0003390Sensory axonal neuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0012185Constrictive median neuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0003409Distal sensory impairment of all modalities2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0003434Sensory ataxic neuropathy2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007220Demyelinating motor neuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0011402Demyelinating sensory neuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007267Chronic axonal neuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007002Motor axonal neuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0003390Sensory axonal neuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0012185Constrictive median neuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0003409Distal sensory impairment of all modalities2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0003434Sensory ataxic neuropathy2ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007220Demyelinating motor neuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0011402Demyelinating sensory neuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007267Chronic axonal neuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007002Motor axonal neuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0003390Sensory axonal neuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0012185Constrictive median neuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0003409Distal sensory impairment of all modalities2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0003434Sensory ataxic neuropathy2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007220Demyelinating motor neuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0011402Demyelinating sensory neuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007267Chronic axonal neuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007002Motor axonal neuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0003390Sensory axonal neuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0012185Constrictive median neuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0003409Distal sensory impairment of all modalities2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0003434Sensory ataxic neuropathy2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007220Demyelinating motor neuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0011402Demyelinating sensory neuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007267Chronic axonal neuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007002Motor axonal neuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0003390Sensory axonal neuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0012185Constrictive median neuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0003409Distal sensory impairment of all modalities2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0003434Sensory ataxic neuropathy2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007220Demyelinating motor neuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0011402Demyelinating sensory neuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007267Chronic axonal neuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007002Motor axonal neuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0003390Sensory axonal neuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0012185Constrictive median neuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0003409Distal sensory impairment of all modalities2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0003434Sensory ataxic neuropathy2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0007131Acute demyelinating polyneuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007220Demyelinating motor neuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0011402Demyelinating sensory neuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007267Chronic axonal neuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007002Motor axonal neuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0003390Sensory axonal neuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0012185Constrictive median neuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007067Distal peripheral sensory neuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0003409Distal sensory impairment of all modalities2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0003434Sensory ataxic neuropathy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007220Demyelinating motor neuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0011402Demyelinating sensory neuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007267Chronic axonal neuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007002Motor axonal neuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0003390Sensory axonal neuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0012185Constrictive median neuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0003409Distal sensory impairment of all modalities2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0003434Sensory ataxic neuropathy2CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007220Demyelinating motor neuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0011402Demyelinating sensory neuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007267Chronic axonal neuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007002Motor axonal neuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0003390Sensory axonal neuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0012185Constrictive median neuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0003409Distal sensory impairment of all modalities2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0003434Sensory ataxic neuropathy2CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0007131Acute demyelinating polyneuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007220Demyelinating motor neuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0011402Demyelinating sensory neuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007267Chronic axonal neuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007002Motor axonal neuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0003390Sensory axonal neuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0012185Constrictive median neuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007067Distal peripheral sensory neuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0003409Distal sensory impairment of all modalities2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0003434Sensory ataxic neuropathy2COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007220Demyelinating motor neuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0011402Demyelinating sensory neuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007267Chronic axonal neuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007002Motor axonal neuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0003390Sensory axonal neuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0012185Constrictive median neuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0003409Distal sensory impairment of all modalities2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0003434Sensory ataxic neuropathy2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007220Demyelinating motor neuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0011402Demyelinating sensory neuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007267Chronic axonal neuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007002Motor axonal neuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0003390Sensory axonal neuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0012185Constrictive median neuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0003409Distal sensory impairment of all modalities2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0003434Sensory ataxic neuropathy2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007220Demyelinating motor neuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0011402Demyelinating sensory neuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007267Chronic axonal neuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007002Motor axonal neuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0003390Sensory axonal neuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0012185Constrictive median neuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0003409Distal sensory impairment of all modalities2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0003434Sensory ataxic neuropathy2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0007131Acute demyelinating polyneuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007220Demyelinating motor neuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0011402Demyelinating sensory neuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007267Chronic axonal neuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007002Motor axonal neuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0003390Sensory axonal neuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0012185Constrictive median neuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007067Distal peripheral sensory neuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0003409Distal sensory impairment of all modalities2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0003434Sensory ataxic neuropathy2DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007220Demyelinating motor neuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0011402Demyelinating sensory neuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007267Chronic axonal neuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007002Motor axonal neuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0003390Sensory axonal neuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0012185Constrictive median neuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0003409Distal sensory impairment of all modalities2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0003434Sensory ataxic neuropathy2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0007131Acute demyelinating polyneuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007220Demyelinating motor neuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0011402Demyelinating sensory neuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007267Chronic axonal neuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007002Motor axonal neuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0003390Sensory axonal neuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0012185Constrictive median neuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007067Distal peripheral sensory neuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0003409Distal sensory impairment of all modalities2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0003434Sensory ataxic neuropathy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0007131Acute demyelinating polyneuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007220Demyelinating motor neuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0011402Demyelinating sensory neuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007267Chronic axonal neuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007002Motor axonal neuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0003390Sensory axonal neuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0012185Constrictive median neuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007067Distal peripheral sensory neuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0003409Distal sensory impairment of all modalities2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0003434Sensory ataxic neuropathy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0007131Acute demyelinating polyneuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007220Demyelinating motor neuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0011402Demyelinating sensory neuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007267Chronic axonal neuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007002Motor axonal neuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0003390Sensory axonal neuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0012185Constrictive median neuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007067Distal peripheral sensory neuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0003409Distal sensory impairment of all modalities2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0003434Sensory ataxic neuropathy2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0007131Acute demyelinating polyneuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007220Demyelinating motor neuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0011402Demyelinating sensory neuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007267Chronic axonal neuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007002Motor axonal neuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0003390Sensory axonal neuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0012185Constrictive median neuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007067Distal peripheral sensory neuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0003409Distal sensory impairment of all modalities2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0003434Sensory ataxic neuropathy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0007131Acute demyelinating polyneuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007220Demyelinating motor neuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0011402Demyelinating sensory neuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007267Chronic axonal neuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007002Motor axonal neuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0003390Sensory axonal neuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0012185Constrictive median neuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007067Distal peripheral sensory neuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0003409Distal sensory impairment of all modalities2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0003434Sensory ataxic neuropathy2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0007131Acute demyelinating polyneuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007220Demyelinating motor neuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0011402Demyelinating sensory neuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007267Chronic axonal neuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007002Motor axonal neuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0003390Sensory axonal neuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0012185Constrictive median neuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007067Distal peripheral sensory neuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0003409Distal sensory impairment of all modalities2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0003434Sensory ataxic neuropathy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0007131Acute demyelinating polyneuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007220Demyelinating motor neuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0011402Demyelinating sensory neuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007267Chronic axonal neuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007002Motor axonal neuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0003390Sensory axonal neuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0012185Constrictive median neuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007067Distal peripheral sensory neuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0003409Distal sensory impairment of all modalities2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0003434Sensory ataxic neuropathy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007220Demyelinating motor neuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0011402Demyelinating sensory neuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007267Chronic axonal neuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007002Motor axonal neuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0003390Sensory axonal neuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0012185Constrictive median neuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0003409Distal sensory impairment of all modalities2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0003434Sensory ataxic neuropathy2HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007220Demyelinating motor neuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0011402Demyelinating sensory neuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007267Chronic axonal neuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007002Motor axonal neuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0003390Sensory axonal neuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0012185Constrictive median neuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0003409Distal sensory impairment of all modalities2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0003434Sensory ataxic neuropathy2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007220Demyelinating motor neuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0011402Demyelinating sensory neuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007267Chronic axonal neuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007002Motor axonal neuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0003390Sensory axonal neuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0012185Constrictive median neuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0003409Distal sensory impairment of all modalities2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0003434Sensory ataxic neuropathy2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007220Demyelinating motor neuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0011402Demyelinating sensory neuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007267Chronic axonal neuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007002Motor axonal neuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0003390Sensory axonal neuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0012185Constrictive median neuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0003409Distal sensory impairment of all modalities2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0003434Sensory ataxic neuropathy2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007220Demyelinating motor neuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0011402Demyelinating sensory neuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007267Chronic axonal neuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007002Motor axonal neuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0003390Sensory axonal neuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0012185Constrictive median neuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0003409Distal sensory impairment of all modalities2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0003434Sensory ataxic neuropathy2HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007220Demyelinating motor neuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0011402Demyelinating sensory neuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007267Chronic axonal neuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007002Motor axonal neuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0003390Sensory axonal neuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0012185Constrictive median neuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0003409Distal sensory impairment of all modalities2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0003434Sensory ataxic neuropathy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0007131Acute demyelinating polyneuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007220Demyelinating motor neuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0011402Demyelinating sensory neuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007267Chronic axonal neuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007002Motor axonal neuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0003390Sensory axonal neuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0012185Constrictive median neuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007067Distal peripheral sensory neuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0003409Distal sensory impairment of all modalities2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0003434Sensory ataxic neuropathy2IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0007131Acute demyelinating polyneuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007220Demyelinating motor neuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0011402Demyelinating sensory neuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007267Chronic axonal neuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007002Motor axonal neuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0003390Sensory axonal neuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0012185Constrictive median neuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007067Distal peripheral sensory neuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0003409Distal sensory impairment of all modalities2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0003434Sensory ataxic neuropathy2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0007131Acute demyelinating polyneuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007220Demyelinating motor neuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0011402Demyelinating sensory neuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007267Chronic axonal neuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007002Motor axonal neuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0003390Sensory axonal neuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0012185Constrictive median neuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007067Distal peripheral sensory neuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0003409Distal sensory impairment of all modalities2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0003434Sensory ataxic neuropathy2INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0007131Acute demyelinating polyneuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007220Demyelinating motor neuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0011402Demyelinating sensory neuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007267Chronic axonal neuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007002Motor axonal neuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0003390Sensory axonal neuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0012185Constrictive median neuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007067Distal peripheral sensory neuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0003409Distal sensory impairment of all modalities2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0003434Sensory ataxic neuropathy2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0007131Acute demyelinating polyneuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007220Demyelinating motor neuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0011402Demyelinating sensory neuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007267Chronic axonal neuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007002Motor axonal neuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0003390Sensory axonal neuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0012185Constrictive median neuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007067Distal peripheral sensory neuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0003409Distal sensory impairment of all modalities2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0003434Sensory ataxic neuropathy2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0007131Acute demyelinating polyneuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007220Demyelinating motor neuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0011402Demyelinating sensory neuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007267Chronic axonal neuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007002Motor axonal neuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0003390Sensory axonal neuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0012185Constrictive median neuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007067Distal peripheral sensory neuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0003409Distal sensory impairment of all modalities2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0003434Sensory ataxic neuropathy2KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0007131Acute demyelinating polyneuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007220Demyelinating motor neuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0011402Demyelinating sensory neuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007267Chronic axonal neuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007002Motor axonal neuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0003390Sensory axonal neuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0012185Constrictive median neuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007067Distal peripheral sensory neuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0003409Distal sensory impairment of all modalities2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0003434Sensory ataxic neuropathy2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0007131Acute demyelinating polyneuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007220Demyelinating motor neuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0011402Demyelinating sensory neuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007267Chronic axonal neuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007002Motor axonal neuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0003390Sensory axonal neuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0012185Constrictive median neuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007067Distal peripheral sensory neuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0003409Distal sensory impairment of all modalities2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0003434Sensory ataxic neuropathy2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0007131Acute demyelinating polyneuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007220Demyelinating motor neuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0011402Demyelinating sensory neuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007267Chronic axonal neuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007002Motor axonal neuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0003390Sensory axonal neuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0012185Constrictive median neuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007067Distal peripheral sensory neuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0003409Distal sensory impairment of all modalities2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0003434Sensory ataxic neuropathy2LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007220Demyelinating motor neuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0011402Demyelinating sensory neuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007267Chronic axonal neuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007002Motor axonal neuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0003390Sensory axonal neuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0012185Constrictive median neuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0003409Distal sensory impairment of all modalities2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0003434Sensory ataxic neuropathy2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007220Demyelinating motor neuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0011402Demyelinating sensory neuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007267Chronic axonal neuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007002Motor axonal neuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0003390Sensory axonal neuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0012185Constrictive median neuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0003409Distal sensory impairment of all modalities2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0003434Sensory ataxic neuropathy2MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007220Demyelinating motor neuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0011402Demyelinating sensory neuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007267Chronic axonal neuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007002Motor axonal neuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0003390Sensory axonal neuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0012185Constrictive median neuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0003409Distal sensory impairment of all modalities2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0003434Sensory ataxic neuropathy2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007220Demyelinating motor neuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0011402Demyelinating sensory neuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007267Chronic axonal neuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007002Motor axonal neuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0003390Sensory axonal neuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0012185Constrictive median neuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0003409Distal sensory impairment of all modalities2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0003434Sensory ataxic neuropathy2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007220Demyelinating motor neuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0011402Demyelinating sensory neuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007267Chronic axonal neuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007002Motor axonal neuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0003390Sensory axonal neuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0012185Constrictive median neuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0003409Distal sensory impairment of all modalities2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0003434Sensory ataxic neuropathy2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007220Demyelinating motor neuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0011402Demyelinating sensory neuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007267Chronic axonal neuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007002Motor axonal neuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0003390Sensory axonal neuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0012185Constrictive median neuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0003409Distal sensory impairment of all modalities2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0003434Sensory ataxic neuropathy2MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007220Demyelinating motor neuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0011402Demyelinating sensory neuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007267Chronic axonal neuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007002Motor axonal neuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0003390Sensory axonal neuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0012185Constrictive median neuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0003409Distal sensory impairment of all modalities2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0003434Sensory ataxic neuropathy2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007220Demyelinating motor neuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0011402Demyelinating sensory neuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007267Chronic axonal neuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007002Motor axonal neuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0003390Sensory axonal neuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0012185Constrictive median neuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0003409Distal sensory impairment of all modalities2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0003434Sensory ataxic neuropathy2MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007220Demyelinating motor neuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0011402Demyelinating sensory neuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007267Chronic axonal neuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007002Motor axonal neuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0003390Sensory axonal neuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0012185Constrictive median neuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0003409Distal sensory impairment of all modalities2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0003434Sensory ataxic neuropathy2NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007002Motor axonal neuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0012185Constrictive median neuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007002Motor axonal neuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0012185Constrictive median neuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007002Motor axonal neuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0012185Constrictive median neuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007002Motor axonal neuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0012185Constrictive median neuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007002Motor axonal neuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0012185Constrictive median neuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007002Motor axonal neuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0012185Constrictive median neuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007002Motor axonal neuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0012185Constrictive median neuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007002Motor axonal neuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0012185Constrictive median neuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007002Motor axonal neuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0012185Constrictive median neuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007002Motor axonal neuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0012185Constrictive median neuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007002Motor axonal neuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0012185Constrictive median neuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007002Motor axonal neuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0012185Constrictive median neuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007002Motor axonal neuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0012185Constrictive median neuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007002Motor axonal neuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0012185Constrictive median neuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007002Motor axonal neuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0012185Constrictive median neuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007002Motor axonal neuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0012185Constrictive median neuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007002Motor axonal neuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0012185Constrictive median neuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007220Demyelinating motor neuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0011402Demyelinating sensory neuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007267Chronic axonal neuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007002Motor axonal neuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0003390Sensory axonal neuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0012185Constrictive median neuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0003409Distal sensory impairment of all modalities2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0003434Sensory ataxic neuropathy2NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0007131Acute demyelinating polyneuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007220Demyelinating motor neuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0011402Demyelinating sensory neuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007267Chronic axonal neuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007002Motor axonal neuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0003390Sensory axonal neuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0012185Constrictive median neuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007067Distal peripheral sensory neuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0003409Distal sensory impairment of all modalities2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0003434Sensory ataxic neuropathy2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007220Demyelinating motor neuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0011402Demyelinating sensory neuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007267Chronic axonal neuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007002Motor axonal neuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0003390Sensory axonal neuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0012185Constrictive median neuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0003409Distal sensory impairment of all modalities2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0003434Sensory ataxic neuropathy2PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007220Demyelinating motor neuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0011402Demyelinating sensory neuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007267Chronic axonal neuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007002Motor axonal neuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0003390Sensory axonal neuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0012185Constrictive median neuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0003409Distal sensory impairment of all modalities2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0003434Sensory ataxic neuropathy2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007220Demyelinating motor neuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0011402Demyelinating sensory neuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007267Chronic axonal neuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007002Motor axonal neuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0003390Sensory axonal neuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0012185Constrictive median neuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0003409Distal sensory impairment of all modalities2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0003434Sensory ataxic neuropathy2PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007220Demyelinating motor neuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0011402Demyelinating sensory neuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007267Chronic axonal neuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007002Motor axonal neuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0003390Sensory axonal neuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0012185Constrictive median neuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0003409Distal sensory impairment of all modalities2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0003434Sensory ataxic neuropathy2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007220Demyelinating motor neuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0011402Demyelinating sensory neuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007267Chronic axonal neuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007002Motor axonal neuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0003390Sensory axonal neuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0012185Constrictive median neuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0003409Distal sensory impairment of all modalities2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0003434Sensory ataxic neuropathy2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007220Demyelinating motor neuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0011402Demyelinating sensory neuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007267Chronic axonal neuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007002Motor axonal neuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0003390Sensory axonal neuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0012185Constrictive median neuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0003409Distal sensory impairment of all modalities2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0003434Sensory ataxic neuropathy2PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007220Demyelinating motor neuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0011402Demyelinating sensory neuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007267Chronic axonal neuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007002Motor axonal neuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0003390Sensory axonal neuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0012185Constrictive median neuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0003409Distal sensory impairment of all modalities2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0003434Sensory ataxic neuropathy2PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007220Demyelinating motor neuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0011402Demyelinating sensory neuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007267Chronic axonal neuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007002Motor axonal neuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0003390Sensory axonal neuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0012185Constrictive median neuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0003409Distal sensory impairment of all modalities2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0003434Sensory ataxic neuropathy2PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007220Demyelinating motor neuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0011402Demyelinating sensory neuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007267Chronic axonal neuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007002Motor axonal neuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0003390Sensory axonal neuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0012185Constrictive median neuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0003409Distal sensory impairment of all modalities2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0003434Sensory ataxic neuropathy2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007220Demyelinating motor neuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0011402Demyelinating sensory neuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007267Chronic axonal neuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007002Motor axonal neuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0003390Sensory axonal neuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0012185Constrictive median neuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0003409Distal sensory impairment of all modalities2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0003434Sensory ataxic neuropathy2PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007220Demyelinating motor neuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0011402Demyelinating sensory neuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007267Chronic axonal neuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007002Motor axonal neuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0003390Sensory axonal neuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0012185Constrictive median neuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0003409Distal sensory impairment of all modalities2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0003434Sensory ataxic neuropathy2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007220Demyelinating motor neuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0011402Demyelinating sensory neuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007267Chronic axonal neuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007002Motor axonal neuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0003390Sensory axonal neuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0012185Constrictive median neuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0003409Distal sensory impairment of all modalities2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0003434Sensory ataxic neuropathy2PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007220Demyelinating motor neuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0011402Demyelinating sensory neuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007267Chronic axonal neuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007002Motor axonal neuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0003390Sensory axonal neuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0012185Constrictive median neuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0003409Distal sensory impairment of all modalities2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0003434Sensory ataxic neuropathy2PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007220Demyelinating motor neuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0011402Demyelinating sensory neuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007267Chronic axonal neuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007002Motor axonal neuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0003390Sensory axonal neuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0012185Constrictive median neuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0003409Distal sensory impairment of all modalities2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0003434Sensory ataxic neuropathy2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007220Demyelinating motor neuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0011402Demyelinating sensory neuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007267Chronic axonal neuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007002Motor axonal neuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0003390Sensory axonal neuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0012185Constrictive median neuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0003409Distal sensory impairment of all modalities2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0003434Sensory ataxic neuropathy2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0007131Acute demyelinating polyneuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007220Demyelinating motor neuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0011402Demyelinating sensory neuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007267Chronic axonal neuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007002Motor axonal neuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0003390Sensory axonal neuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0012185Constrictive median neuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007067Distal peripheral sensory neuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0003409Distal sensory impairment of all modalities2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0003434Sensory ataxic neuropathy2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007220Demyelinating motor neuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0011402Demyelinating sensory neuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007267Chronic axonal neuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007002Motor axonal neuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0003390Sensory axonal neuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0012185Constrictive median neuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0003409Distal sensory impairment of all modalities2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0003434Sensory ataxic neuropathy2SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007220Demyelinating motor neuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0011402Demyelinating sensory neuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007267Chronic axonal neuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007002Motor axonal neuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0003390Sensory axonal neuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0012185Constrictive median neuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0003409Distal sensory impairment of all modalities2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0003434Sensory ataxic neuropathy2SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007220Demyelinating motor neuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0011402Demyelinating sensory neuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007267Chronic axonal neuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007002Motor axonal neuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0003390Sensory axonal neuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0012185Constrictive median neuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0003409Distal sensory impairment of all modalities2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0003434Sensory ataxic neuropathy2SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007220Demyelinating motor neuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0011402Demyelinating sensory neuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007267Chronic axonal neuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007002Motor axonal neuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0003390Sensory axonal neuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0012185Constrictive median neuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0003409Distal sensory impairment of all modalities2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0003434Sensory ataxic neuropathy2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007220Demyelinating motor neuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0011402Demyelinating sensory neuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007267Chronic axonal neuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007002Motor axonal neuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0003390Sensory axonal neuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0012185Constrictive median neuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0003409Distal sensory impairment of all modalities2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0003434Sensory ataxic neuropathy2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007220Demyelinating motor neuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0011402Demyelinating sensory neuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007267Chronic axonal neuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007002Motor axonal neuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0003390Sensory axonal neuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0012185Constrictive median neuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0003409Distal sensory impairment of all modalities2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0003434Sensory ataxic neuropathy2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007220Demyelinating motor neuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0011402Demyelinating sensory neuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007267Chronic axonal neuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007002Motor axonal neuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0003390Sensory axonal neuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0012185Constrictive median neuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0003409Distal sensory impairment of all modalities2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0003434Sensory ataxic neuropathy2SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007220Demyelinating motor neuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0011402Demyelinating sensory neuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007267Chronic axonal neuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007002Motor axonal neuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0003390Sensory axonal neuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0012185Constrictive median neuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0003409Distal sensory impairment of all modalities2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0003434Sensory ataxic neuropathy2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007220Demyelinating motor neuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0011402Demyelinating sensory neuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007267Chronic axonal neuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007002Motor axonal neuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0003390Sensory axonal neuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0012185Constrictive median neuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0003409Distal sensory impairment of all modalities2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0003434Sensory ataxic neuropathy2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007220Demyelinating motor neuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0011402Demyelinating sensory neuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007267Chronic axonal neuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007002Motor axonal neuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0003390Sensory axonal neuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0012185Constrictive median neuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0003409Distal sensory impairment of all modalities2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0003434Sensory ataxic neuropathy2SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007220Demyelinating motor neuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0011402Demyelinating sensory neuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007267Chronic axonal neuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007002Motor axonal neuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0003390Sensory axonal neuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0012185Constrictive median neuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0003409Distal sensory impairment of all modalities2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0003434Sensory ataxic neuropathy2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007220Demyelinating motor neuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0011402Demyelinating sensory neuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007267Chronic axonal neuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007002Motor axonal neuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0003390Sensory axonal neuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0012185Constrictive median neuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0003409Distal sensory impairment of all modalities2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0003434Sensory ataxic neuropathy2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007220Demyelinating motor neuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0011402Demyelinating sensory neuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007267Chronic axonal neuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007002Motor axonal neuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0003390Sensory axonal neuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0012185Constrictive median neuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0003409Distal sensory impairment of all modalities2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0003434Sensory ataxic neuropathy2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007220Demyelinating motor neuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0011402Demyelinating sensory neuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007267Chronic axonal neuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007002Motor axonal neuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0003390Sensory axonal neuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0012185Constrictive median neuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0003409Distal sensory impairment of all modalities2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0003434Sensory ataxic neuropathy2SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007220Demyelinating motor neuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0011402Demyelinating sensory neuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007267Chronic axonal neuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007002Motor axonal neuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0003390Sensory axonal neuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0012185Constrictive median neuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0003409Distal sensory impairment of all modalities2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0003434Sensory ataxic neuropathy2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007220Demyelinating motor neuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0011402Demyelinating sensory neuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007267Chronic axonal neuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007002Motor axonal neuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0003390Sensory axonal neuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0012185Constrictive median neuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0003409Distal sensory impairment of all modalities2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0003434Sensory ataxic neuropathy2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007220Demyelinating motor neuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0011402Demyelinating sensory neuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007267Chronic axonal neuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007002Motor axonal neuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0003390Sensory axonal neuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0012185Constrictive median neuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0003409Distal sensory impairment of all modalities2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0003434Sensory ataxic neuropathy2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007220Demyelinating motor neuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0011402Demyelinating sensory neuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007267Chronic axonal neuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007002Motor axonal neuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0003390Sensory axonal neuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0012185Constrictive median neuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0003409Distal sensory impairment of all modalities2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0003434Sensory ataxic neuropathy2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007220Demyelinating motor neuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0011402Demyelinating sensory neuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007267Chronic axonal neuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007002Motor axonal neuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0003390Sensory axonal neuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0012185Constrictive median neuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0003409Distal sensory impairment of all modalities2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0003434Sensory ataxic neuropathy2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007220Demyelinating motor neuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0011402Demyelinating sensory neuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007267Chronic axonal neuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007002Motor axonal neuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0003390Sensory axonal neuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0012185Constrictive median neuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0003409Distal sensory impairment of all modalities2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0003434Sensory ataxic neuropathy2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007220Demyelinating motor neuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0011402Demyelinating sensory neuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007267Chronic axonal neuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007002Motor axonal neuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0003390Sensory axonal neuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0012185Constrictive median neuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0003409Distal sensory impairment of all modalities2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0003434Sensory ataxic neuropathy2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007220Demyelinating motor neuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0011402Demyelinating sensory neuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007267Chronic axonal neuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007002Motor axonal neuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0003390Sensory axonal neuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0012185Constrictive median neuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0003409Distal sensory impairment of all modalities2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0003434Sensory ataxic neuropathy2TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007220Demyelinating motor neuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0011402Demyelinating sensory neuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007267Chronic axonal neuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007002Motor axonal neuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0003390Sensory axonal neuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0012185Constrictive median neuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0003409Distal sensory impairment of all modalities2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0003434Sensory ataxic neuropathy2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007220Demyelinating motor neuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0011402Demyelinating sensory neuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007267Chronic axonal neuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007002Motor axonal neuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0003390Sensory axonal neuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0012185Constrictive median neuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0003409Distal sensory impairment of all modalities2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0003434Sensory ataxic neuropathy2TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007220Demyelinating motor neuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0011402Demyelinating sensory neuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007267Chronic axonal neuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007002Motor axonal neuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0003390Sensory axonal neuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0012185Constrictive median neuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0003409Distal sensory impairment of all modalities2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0003434Sensory ataxic neuropathy2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0007131Acute demyelinating polyneuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007220Demyelinating motor neuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0011402Demyelinating sensory neuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007267Chronic axonal neuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007002Motor axonal neuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0003390Sensory axonal neuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0012185Constrictive median neuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007067Distal peripheral sensory neuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0003409Distal sensory impairment of all modalities2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0003434Sensory ataxic neuropathy2VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0007131Acute demyelinating polyneuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007220Demyelinating motor neuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0011402Demyelinating sensory neuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007267Chronic axonal neuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007002Motor axonal neuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0003390Sensory axonal neuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0012185Constrictive median neuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007067Distal peripheral sensory neuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0003409Distal sensory impairment of all modalities2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0003434Sensory ataxic neuropathy2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007220Demyelinating motor neuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0011402Demyelinating sensory neuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007267Chronic axonal neuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007002Motor axonal neuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0003390Sensory axonal neuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0012185Constrictive median neuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0003409Distal sensory impairment of all modalities2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0003434Sensory ataxic neuropathy2ZFR CL E G H51663401840ORPHA117517277615635
HP:0009830HP:0006984Distal sensory loss of all modalities3AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0009830HP:0006984Distal sensory loss of all modalities3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0009830HP:0006984Distal sensory loss of all modalities3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0009830HP:0006984Distal sensory loss of all modalities3ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM15331839607575
HP:0009830HP:0006984Distal sensory loss of all modalities3AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1754341604285
HP:0009830HP:0006984Distal sensory loss of all modalities3AMACR CL E G H2360079095ORPHA1392451604489
HP:0009830HP:0006984Distal sensory loss of all modalities3AP1S1 CL E G H1174171851ORPHA174559603531
HP:0009830HP:0006984Distal sensory loss of all modalities3AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0009830HP:0006984Distal sensory loss of all modalities3AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0009830HP:0006984Distal sensory loss of all modalities3APTX CL E G H548401168ORPHA133115984606350
HP:0009830HP:0006984Distal sensory loss of all modalities3AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0009830HP:0006984Distal sensory loss of all modalities3ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0009830HP:0006984Distal sensory loss of all modalities3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0009830HP:0006984Distal sensory loss of all modalities3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0009830HP:0006984Distal sensory loss of all modalities3ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0009830HP:0006984Distal sensory loss of all modalities3ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0009830HP:0006984Distal sensory loss of all modalities3BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0009830HP:0006984Distal sensory loss of all modalities3CA2 CL E G H7602785ORPHA11841373611492
HP:0009830HP:0006984Distal sensory loss of all modalities3CAPN1 CL E G H823488594ORPHA12481476114220
HP:0009830HP:0006984Distal sensory loss of all modalities3COX15 CL E G H1355255241ORPHA13572263603646
HP:0009830HP:0006984Distal sensory loss of all modalities3CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12562321612732
HP:0009830HP:0006984Distal sensory loss of all modalities3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0009830HP:0006984Distal sensory loss of all modalities3CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0009830HP:0006984Distal sensory loss of all modalities3DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11189439601184
HP:0009830HP:0006984Distal sensory loss of all modalities3ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0009830HP:0006984Distal sensory loss of all modalities3EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0009830HP:0006984Distal sensory loss of all modalities3EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0009830HP:0006984Distal sensory loss of all modalities3FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0009830HP:0006984Distal sensory loss of all modalities3GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0009830HP:0006984Distal sensory loss of all modalities3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0009830HP:0006984Distal sensory loss of all modalities3GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM153715968606598
HP:0009830HP:0006984Distal sensory loss of all modalities3GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0009830HP:0006984Distal sensory loss of all modalities3HADHA CL E G H30305ORPHA17924801600890
HP:0009830HP:0006984Distal sensory loss of all modalities3HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0009830HP:0006984Distal sensory loss of all modalities3HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0009830HP:0006984Distal sensory loss of all modalities3HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0009830HP:0006984Distal sensory loss of all modalities3HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13665246602195
HP:0009830HP:0006984Distal sensory loss of all modalities3HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1765248604624
HP:0009830HP:0006984Distal sensory loss of all modalities3IARS2 CL E G H55699436174ORPHA146429685612801
HP:0009830HP:0006984Distal sensory loss of all modalities3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0009830HP:0006984Distal sensory loss of all modalities3INSR CL E G H3643769ORPHA16226091147670
HP:0009830HP:0006984Distal sensory loss of all modalities3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0009830HP:0006984Distal sensory loss of all modalities3KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0009830HP:0006984Distal sensory loss of all modalities3KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12622888601255
HP:0009830HP:0006984Distal sensory loss of all modalities3KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0009830HP:0006984Distal sensory loss of all modalities3LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0009830HP:0006984Distal sensory loss of all modalities3LYST CL E G H1130352723ORPHA125751968606897
HP:0009830HP:0006984Distal sensory loss of all modalities3MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM12726783159460
HP:0009830HP:0006984Distal sensory loss of all modalities3MARS CL E G H4141401835ORPHA16898156560
HP:0009830HP:0006984Distal sensory loss of all modalities3MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0009830HP:0006984Distal sensory loss of all modalities3MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0009830HP:0006984Distal sensory loss of all modalities3MTFMT CL E G H123263255241ORPHA124329666611766
HP:0009830HP:0006984Distal sensory loss of all modalities3MYH14 CL E G H79784397744ORPHA1106223212608568
HP:0009830HP:0006984Distal sensory loss of all modalities3MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0009830HP:0006984Distal sensory loss of all modalities3MYOT CL E G H949998911ORPHA137212399604103
HP:0009830HP:0006984Distal sensory loss of all modalities3NAGA CL E G H466879280ORPHA12307631104170
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0009830HP:0006984Distal sensory loss of all modalities3NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM117837773607379
HP:0009830HP:0006984Distal sensory loss of all modalities3OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM112248140605290
HP:0009830HP:0006984Distal sensory loss of all modalities3PDE4D CL E G H5144950ORPHA14758783600129
HP:0009830HP:0006984Distal sensory loss of all modalities3PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0009830HP:0006984Distal sensory loss of all modalities3PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM130817759607429
HP:0009830HP:0006984Distal sensory loss of all modalities3PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0009830HP:0006984Distal sensory loss of all modalities3PET100 CL E G H100131801255241ORPHA17640038614770
HP:0009830HP:0006984Distal sensory loss of all modalities3PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM18589719600414
HP:0009830HP:0006984Distal sensory loss of all modalities3PEX7 CL E G H5191773ORPHA15508860601757
HP:0009830HP:0006984Distal sensory loss of all modalities3PHYH CL E G H5264773ORPHA13828940602026
HP:0009830HP:0006984Distal sensory loss of all modalities3PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0009830HP:0006984Distal sensory loss of all modalities3PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14929118601097
HP:0009830HP:0006984Distal sensory loss of all modalities3PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0009830HP:0006984Distal sensory loss of all modalities3PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM12259280600923
HP:0009830HP:0006984Distal sensory loss of all modalities3PRKAR1A CL E G H5573950ORPHA111319388188830
HP:0009830HP:0006984Distal sensory loss of all modalities3PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0009830HP:0006984Distal sensory loss of all modalities3PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0009830HP:0006984Distal sensory loss of all modalities3RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0009830HP:0006984Distal sensory loss of all modalities3SCN10A CL E G H633690026ORPHA1181810582604427
HP:0009830HP:0006984Distal sensory loss of all modalities3SCN11A CL E G H1128090026ORPHA1121210583604385
HP:0009830HP:0006984Distal sensory loss of all modalities3SCN9A CL E G H633590026ORPHA1225410597603415
HP:0009830HP:0006984Distal sensory loss of all modalities3SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0009830HP:0006984Distal sensory loss of all modalities3SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM139410606184755
HP:0009830HP:0006984Distal sensory loss of all modalities3SDHA CL E G H6389255241ORPHA1250310680600857
HP:0009830HP:0006984Distal sensory loss of all modalities3SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM15527323604061
HP:0009830HP:0006984Distal sensory loss of all modalities3SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0009830HP:0006984Distal sensory loss of all modalities3SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0009830HP:0006984Distal sensory loss of all modalities3SLC46A1 CL E G H11323590045ORPHA132930521611672
HP:0009830HP:0006984Distal sensory loss of all modalities3SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0009830HP:0006984Distal sensory loss of all modalities3SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0009830HP:0006984Distal sensory loss of all modalities3SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0009830HP:0006984Distal sensory loss of all modalities3SNAP29 CL E G H934266631ORPHA165811133604202
HP:0009830HP:0006984Distal sensory loss of all modalities3SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0009830HP:0006984Distal sensory loss of all modalities3SOX10 CL E G H6663163746ORPHA137811190602229
HP:0009830HP:0006984Distal sensory loss of all modalities3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0009830HP:0006984Distal sensory loss of all modalities3SURF1 CL E G H6834255241ORPHA153211474185620
HP:0009830HP:0006984Distal sensory loss of all modalities3SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0009830HP:0006984Distal sensory loss of all modalities3TACO1 CL E G H51204255241ORPHA111724316612958
HP:0009830HP:0006984Distal sensory loss of all modalities3TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM137311758602498
HP:0009830HP:0006984Distal sensory loss of all modalities3TMPRSS6 CL E G H164656209981ORPHA124116517609862
HP:0009830HP:0006984Distal sensory loss of all modalities3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0009830HP:0006984Distal sensory loss of all modalities3TTR CL E G H7276115430Carpal tunnel syndrome115430C0007286OMIM137712405176300
HP:0009830HP:0006984Distal sensory loss of all modalities3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0009830HP:0006984Distal sensory loss of all modalities3VPS13A CL E G H232302388ORPHA123621908605978
HP:0009830HP:0006984Distal sensory loss of all modalities3WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0009830HP:0006984Distal sensory loss of all modalities3ZFR CL E G H51663401840ORPHA117517277615635
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009830HP:0009830Peripheral neuropathy0ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0009830Peripheral neuropathy0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0009830Peripheral neuropathy0AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0009830Peripheral neuropathy0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0009830Peripheral neuropathy0BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0009830Peripheral neuropathy0CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0009830Peripheral neuropathy0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0009830Peripheral neuropathy0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0009830Peripheral neuropathy0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0009830Peripheral neuropathy0CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0009830Peripheral neuropathy0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0009830Peripheral neuropathy0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0009830Peripheral neuropathy0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0009830Peripheral neuropathy0ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0009830Peripheral neuropathy0ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0009830Peripheral neuropathy0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0009830Peripheral neuropathy0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0009830Peripheral neuropathy0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0009830Peripheral neuropathy0ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0009830Peripheral neuropathy0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0009830Peripheral neuropathy0ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0009830Peripheral neuropathy0FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0009830Peripheral neuropathy0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0009830Peripheral neuropathy0HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0009830Peripheral neuropathy0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0009830Peripheral neuropathy0HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0009830Peripheral neuropathy0HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0009830Peripheral neuropathy0HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0009830Peripheral neuropathy0INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0009830Peripheral neuropathy0KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0009830Peripheral neuropathy0KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0009830Peripheral neuropathy0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0009830Peripheral neuropathy0MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0009830Peripheral neuropathy0MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0009830Peripheral neuropathy0MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0009830Peripheral neuropathy0MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0009830Peripheral neuropathy0MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0009830Peripheral neuropathy0MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0009830Peripheral neuropathy0MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0009830Peripheral neuropathy0MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0009830Peripheral neuropathy0MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0009830Peripheral neuropathy0MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0009830Peripheral neuropathy0MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0009830Peripheral neuropathy0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0009830Peripheral neuropathy0MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0009830Peripheral neuropathy0NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0009830Peripheral neuropathy0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0009830Peripheral neuropathy0NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0009830Peripheral neuropathy0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0009830Peripheral neuropathy0PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0009830Peripheral neuropathy0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0009830Peripheral neuropathy0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0009830Peripheral neuropathy0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0009830Peripheral neuropathy0RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0009830Peripheral neuropathy0RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0009830Peripheral neuropathy0RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0009830Peripheral neuropathy0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0009830Peripheral neuropathy0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0009830Peripheral neuropathy0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0009830Peripheral neuropathy0SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0009830Peripheral neuropathy0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0009830Peripheral neuropathy0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0009830Peripheral neuropathy0SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0009830Peripheral neuropathy0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0009830Peripheral neuropathy0TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0009830Peripheral neuropathy0TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0009830Peripheral neuropathy0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0009830Peripheral neuropathy0TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0009830Peripheral neuropathy0WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0009830Peripheral neuropathy0WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0009830Peripheral neuropathy0WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0009830Peripheral neuropathy0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0009830Peripheral neuropathy0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0003477Peripheral axonal neuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0006903Congenital peripheral neuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0012181Entrapment neuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0006949Episodic peripheral neuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0009831Mononeuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007178Motor polyneuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0032018Multiple mononeuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0001271Polyneuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007133Progressive peripheral neuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007141Sensorimotor neuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0000763Sensory neuropathy1ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0003477Peripheral axonal neuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0006903Congenital peripheral neuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0012181Entrapment neuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0006949Episodic peripheral neuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0009831Mononeuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007178Motor polyneuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0032018Multiple mononeuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0001271Polyneuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007133Progressive peripheral neuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007141Sensorimotor neuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0000763Sensory neuropathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007108Demyelinating peripheral neuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0003477Peripheral axonal neuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0006903Congenital peripheral neuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0012181Entrapment neuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0006949Episodic peripheral neuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0009831Mononeuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007178Motor polyneuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0032018Multiple mononeuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0001271Polyneuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007133Progressive peripheral neuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007141Sensorimotor neuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0000763Sensory neuropathy1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007108Demyelinating peripheral neuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0003477Peripheral axonal neuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0006903Congenital peripheral neuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0012181Entrapment neuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0006949Episodic peripheral neuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0009831Mononeuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007178Motor polyneuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0032018Multiple mononeuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0001271Polyneuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007133Progressive peripheral neuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007141Sensorimotor neuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0000763Sensory neuropathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007108Demyelinating peripheral neuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0003477Peripheral axonal neuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0006903Congenital peripheral neuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0012181Entrapment neuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0006949Episodic peripheral neuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0009831Mononeuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007178Motor polyneuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0032018Multiple mononeuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0001271Polyneuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007133Progressive peripheral neuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007141Sensorimotor neuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0000763Sensory neuropathy1BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0003477Peripheral axonal neuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0006903Congenital peripheral neuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0012181Entrapment neuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0006949Episodic peripheral neuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0009831Mononeuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007178Motor polyneuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0032018Multiple mononeuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0001271Polyneuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007133Progressive peripheral neuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007141Sensorimotor neuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0000763Sensory neuropathy1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0003477Peripheral axonal neuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0006903Congenital peripheral neuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0012181Entrapment neuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0006949Episodic peripheral neuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0009831Mononeuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007178Motor polyneuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0032018Multiple mononeuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0001271Polyneuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007133Progressive peripheral neuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007141Sensorimotor neuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0000763Sensory neuropathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0003477Peripheral axonal neuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0006903Congenital peripheral neuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0012181Entrapment neuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0006949Episodic peripheral neuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0009831Mononeuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007178Motor polyneuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0032018Multiple mononeuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0001271Polyneuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007133Progressive peripheral neuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007141Sensorimotor neuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0000763Sensory neuropathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0003477Peripheral axonal neuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0006903Congenital peripheral neuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0012181Entrapment neuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0006949Episodic peripheral neuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0009831Mononeuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007178Motor polyneuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0032018Multiple mononeuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0001271Polyneuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007133Progressive peripheral neuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007141Sensorimotor neuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0000763Sensory neuropathy1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0003477Peripheral axonal neuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0006903Congenital peripheral neuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0012181Entrapment neuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0006949Episodic peripheral neuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0009831Mononeuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007178Motor polyneuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0032018Multiple mononeuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0001271Polyneuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007133Progressive peripheral neuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007141Sensorimotor neuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0000763Sensory neuropathy1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007108Demyelinating peripheral neuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0003477Peripheral axonal neuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0006903Congenital peripheral neuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0012181Entrapment neuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0006949Episodic peripheral neuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0009831Mononeuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007178Motor polyneuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0032018Multiple mononeuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0001271Polyneuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007133Progressive peripheral neuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007141Sensorimotor neuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0000763Sensory neuropathy1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007108Demyelinating peripheral neuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0003477Peripheral axonal neuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0006903Congenital peripheral neuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0012181Entrapment neuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0006949Episodic peripheral neuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0009831Mononeuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007178Motor polyneuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0032018Multiple mononeuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0001271Polyneuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007133Progressive peripheral neuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007141Sensorimotor neuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0000763Sensory neuropathy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007108Demyelinating peripheral neuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0003477Peripheral axonal neuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0006903Congenital peripheral neuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0012181Entrapment neuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0006949Episodic peripheral neuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0009831Mononeuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007178Motor polyneuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0032018Multiple mononeuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0001271Polyneuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007133Progressive peripheral neuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007141Sensorimotor neuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0000763Sensory neuropathy1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0003477Peripheral axonal neuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0006903Congenital peripheral neuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0012181Entrapment neuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0006949Episodic peripheral neuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0009831Mononeuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007178Motor polyneuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0032018Multiple mononeuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0001271Polyneuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007133Progressive peripheral neuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007141Sensorimotor neuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0000763Sensory neuropathy1ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0003477Peripheral axonal neuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0006903Congenital peripheral neuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0012181Entrapment neuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0006949Episodic peripheral neuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0009831Mononeuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007178Motor polyneuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0032018Multiple mononeuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0001271Polyneuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007133Progressive peripheral neuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007141Sensorimotor neuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0000763Sensory neuropathy1ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0003477Peripheral axonal neuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0006903Congenital peripheral neuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0012181Entrapment neuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0006949Episodic peripheral neuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0009831Mononeuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007178Motor polyneuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0032018Multiple mononeuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0001271Polyneuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007133Progressive peripheral neuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007141Sensorimotor neuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0000763Sensory neuropathy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0003477Peripheral axonal neuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0006903Congenital peripheral neuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0012181Entrapment neuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0006949Episodic peripheral neuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0009831Mononeuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007178Motor polyneuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0032018Multiple mononeuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0001271Polyneuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007133Progressive peripheral neuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007141Sensorimotor neuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0000763Sensory neuropathy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0003477Peripheral axonal neuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0006903Congenital peripheral neuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0012181Entrapment neuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0006949Episodic peripheral neuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0009831Mononeuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007178Motor polyneuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0032018Multiple mononeuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0001271Polyneuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007133Progressive peripheral neuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007141Sensorimotor neuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0000763Sensory neuropathy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0003477Peripheral axonal neuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0006903Congenital peripheral neuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0012181Entrapment neuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0006949Episodic peripheral neuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0009831Mononeuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007178Motor polyneuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0032018Multiple mononeuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0001271Polyneuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007133Progressive peripheral neuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007141Sensorimotor neuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0000763Sensory neuropathy1ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0003477Peripheral axonal neuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0006903Congenital peripheral neuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0012181Entrapment neuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0006949Episodic peripheral neuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0009831Mononeuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007178Motor polyneuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0032018Multiple mononeuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0001271Polyneuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007133Progressive peripheral neuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007141Sensorimotor neuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0000763Sensory neuropathy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007108Demyelinating peripheral neuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0003477Peripheral axonal neuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0006903Congenital peripheral neuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0012181Entrapment neuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0006949Episodic peripheral neuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0009831Mononeuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007178Motor polyneuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0032018Multiple mononeuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0001271Polyneuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007133Progressive peripheral neuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007141Sensorimotor neuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0000763Sensory neuropathy1ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007108Demyelinating peripheral neuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0003477Peripheral axonal neuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0006903Congenital peripheral neuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0012181Entrapment neuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0006949Episodic peripheral neuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0009831Mononeuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007178Motor polyneuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0032018Multiple mononeuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0001271Polyneuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007133Progressive peripheral neuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007141Sensorimotor neuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0000763Sensory neuropathy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007108Demyelinating peripheral neuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0003477Peripheral axonal neuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0006903Congenital peripheral neuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0012181Entrapment neuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0006949Episodic peripheral neuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0009831Mononeuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007178Motor polyneuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0032018Multiple mononeuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0001271Polyneuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007133Progressive peripheral neuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007141Sensorimotor neuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0000763Sensory neuropathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0003477Peripheral axonal neuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0006903Congenital peripheral neuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0012181Entrapment neuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0006949Episodic peripheral neuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0009831Mononeuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007178Motor polyneuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0032018Multiple mononeuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0001271Polyneuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007133Progressive peripheral neuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007141Sensorimotor neuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0000763Sensory neuropathy1HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0003477Peripheral axonal neuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0006903Congenital peripheral neuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0012181Entrapment neuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0006949Episodic peripheral neuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0009831Mononeuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007178Motor polyneuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0032018Multiple mononeuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0001271Polyneuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007133Progressive peripheral neuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007141Sensorimotor neuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0000763Sensory neuropathy1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0003477Peripheral axonal neuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0006903Congenital peripheral neuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0012181Entrapment neuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0006949Episodic peripheral neuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0009831Mononeuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007178Motor polyneuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0032018Multiple mononeuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0001271Polyneuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007133Progressive peripheral neuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007141Sensorimotor neuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0000763Sensory neuropathy1HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0003477Peripheral axonal neuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0006903Congenital peripheral neuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0012181Entrapment neuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0006949Episodic peripheral neuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0009831Mononeuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007178Motor polyneuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0032018Multiple mononeuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0001271Polyneuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007133Progressive peripheral neuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007141Sensorimotor neuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0000763Sensory neuropathy1HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007108Demyelinating peripheral neuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0003477Peripheral axonal neuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0006903Congenital peripheral neuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0012181Entrapment neuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0006949Episodic peripheral neuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0009831Mononeuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007178Motor polyneuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0032018Multiple mononeuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0001271Polyneuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007133Progressive peripheral neuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007141Sensorimotor neuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0000763Sensory neuropathy1HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007108Demyelinating peripheral neuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0003477Peripheral axonal neuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0006903Congenital peripheral neuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0012181Entrapment neuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0006949Episodic peripheral neuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0009831Mononeuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007178Motor polyneuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0032018Multiple mononeuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0001271Polyneuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007133Progressive peripheral neuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007141Sensorimotor neuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0000763Sensory neuropathy1INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007108Demyelinating peripheral neuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0003477Peripheral axonal neuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0006903Congenital peripheral neuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0012181Entrapment neuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0006949Episodic peripheral neuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0009831Mononeuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007178Motor polyneuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0032018Multiple mononeuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0001271Polyneuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007133Progressive peripheral neuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007141Sensorimotor neuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0000763Sensory neuropathy1KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007108Demyelinating peripheral neuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0003477Peripheral axonal neuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0006903Congenital peripheral neuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0012181Entrapment neuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0006949Episodic peripheral neuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0009831Mononeuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007178Motor polyneuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0032018Multiple mononeuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0001271Polyneuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007133Progressive peripheral neuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007141Sensorimotor neuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0000763Sensory neuropathy1KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007108Demyelinating peripheral neuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0003477Peripheral axonal neuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0006903Congenital peripheral neuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0012181Entrapment neuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0006949Episodic peripheral neuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0009831Mononeuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007178Motor polyneuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0032018Multiple mononeuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0001271Polyneuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007133Progressive peripheral neuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007141Sensorimotor neuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0000763Sensory neuropathy1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0003477Peripheral axonal neuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0006903Congenital peripheral neuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0012181Entrapment neuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0006949Episodic peripheral neuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0009831Mononeuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007178Motor polyneuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0032018Multiple mononeuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0001271Polyneuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007133Progressive peripheral neuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007141Sensorimotor neuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0000763Sensory neuropathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0012181Entrapment neuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0009831Mononeuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007178Motor polyneuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0032018Multiple mononeuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0001271Polyneuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007141Sensorimotor neuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0000763Sensory neuropathy1MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0012181Entrapment neuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0009831Mononeuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007178Motor polyneuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0032018Multiple mononeuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0001271Polyneuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007141Sensorimotor neuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0000763Sensory neuropathy1MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0012181Entrapment neuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0009831Mononeuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007178Motor polyneuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0032018Multiple mononeuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0001271Polyneuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007141Sensorimotor neuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0000763Sensory neuropathy1MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0012181Entrapment neuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0009831Mononeuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007178Motor polyneuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0032018Multiple mononeuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0001271Polyneuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007141Sensorimotor neuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0000763Sensory neuropathy1MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0012181Entrapment neuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0009831Mononeuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007178Motor polyneuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0032018Multiple mononeuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0001271Polyneuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007141Sensorimotor neuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0000763Sensory neuropathy1MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0012181Entrapment neuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0009831Mononeuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007178Motor polyneuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0032018Multiple mononeuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0001271Polyneuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007141Sensorimotor neuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0000763Sensory neuropathy1MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0012181Entrapment neuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0009831Mononeuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007178Motor polyneuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0032018Multiple mononeuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0001271Polyneuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007141Sensorimotor neuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0000763Sensory neuropathy1MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0012181Entrapment neuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0009831Mononeuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007178Motor polyneuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0032018Multiple mononeuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0001271Polyneuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007141Sensorimotor neuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0000763Sensory neuropathy1MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0012181Entrapment neuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0009831Mononeuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007178Motor polyneuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0032018Multiple mononeuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0001271Polyneuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007141Sensorimotor neuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0000763Sensory neuropathy1MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0012181Entrapment neuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0009831Mononeuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007178Motor polyneuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0032018Multiple mononeuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0001271Polyneuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007141Sensorimotor neuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0000763Sensory neuropathy1MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0003477Peripheral axonal neuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0006903Congenital peripheral neuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0012181Entrapment neuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0006949Episodic peripheral neuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0009831Mononeuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007178Motor polyneuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0032018Multiple mononeuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0001271Polyneuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007133Progressive peripheral neuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007141Sensorimotor neuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0000763Sensory neuropathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007108Demyelinating peripheral neuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0003477Peripheral axonal neuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0006903Congenital peripheral neuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0012181Entrapment neuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0006949Episodic peripheral neuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0009831Mononeuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007178Motor polyneuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0032018Multiple mononeuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0001271Polyneuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007133Progressive peripheral neuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007141Sensorimotor neuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0000763Sensory neuropathy1MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0003477Peripheral axonal neuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0006903Congenital peripheral neuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0012181Entrapment neuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0006949Episodic peripheral neuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0009831Mononeuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007178Motor polyneuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0032018Multiple mononeuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0001271Polyneuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007133Progressive peripheral neuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007141Sensorimotor neuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0000763Sensory neuropathy1NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0003477Peripheral axonal neuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0006903Congenital peripheral neuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0012181Entrapment neuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0006949Episodic peripheral neuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0009831Mononeuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007178Motor polyneuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0032018Multiple mononeuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0001271Polyneuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007133Progressive peripheral neuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007141Sensorimotor neuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0000763Sensory neuropathy1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0003477Peripheral axonal neuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0006903Congenital peripheral neuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0012181Entrapment neuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0006949Episodic peripheral neuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0009831Mononeuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007178Motor polyneuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0032018Multiple mononeuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0001271Polyneuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007133Progressive peripheral neuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007141Sensorimotor neuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0000763Sensory neuropathy1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007108Demyelinating peripheral neuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0003477Peripheral axonal neuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0006903Congenital peripheral neuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0012181Entrapment neuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0006949Episodic peripheral neuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0009831Mononeuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007178Motor polyneuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0032018Multiple mononeuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0001271Polyneuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007133Progressive peripheral neuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007141Sensorimotor neuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0000763Sensory neuropathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0003477Peripheral axonal neuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0006903Congenital peripheral neuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0012181Entrapment neuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0006949Episodic peripheral neuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0009831Mononeuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007178Motor polyneuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0032018Multiple mononeuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0001271Polyneuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007133Progressive peripheral neuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007141Sensorimotor neuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0000763Sensory neuropathy1PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007108Demyelinating peripheral neuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0003477Peripheral axonal neuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0006903Congenital peripheral neuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0012181Entrapment neuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0006949Episodic peripheral neuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0009831Mononeuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007178Motor polyneuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0032018Multiple mononeuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0001271Polyneuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007133Progressive peripheral neuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007141Sensorimotor neuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0000763Sensory neuropathy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007108Demyelinating peripheral neuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0003477Peripheral axonal neuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0006903Congenital peripheral neuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0012181Entrapment neuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0006949Episodic peripheral neuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0009831Mononeuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007178Motor polyneuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0032018Multiple mononeuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0001271Polyneuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007133Progressive peripheral neuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007141Sensorimotor neuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0000763Sensory neuropathy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007108Demyelinating peripheral neuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0003477Peripheral axonal neuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0006903Congenital peripheral neuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0012181Entrapment neuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0006949Episodic peripheral neuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0009831Mononeuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007178Motor polyneuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0032018Multiple mononeuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0001271Polyneuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007133Progressive peripheral neuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007141Sensorimotor neuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0000763Sensory neuropathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007108Demyelinating peripheral neuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0003477Peripheral axonal neuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0006903Congenital peripheral neuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0012181Entrapment neuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0006949Episodic peripheral neuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0009831Mononeuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007178Motor polyneuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0032018Multiple mononeuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0001271Polyneuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007133Progressive peripheral neuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007141Sensorimotor neuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0000763Sensory neuropathy1RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007108Demyelinating peripheral neuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0003477Peripheral axonal neuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0006903Congenital peripheral neuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0012181Entrapment neuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0006949Episodic peripheral neuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0009831Mononeuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007178Motor polyneuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0032018Multiple mononeuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0001271Polyneuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007133Progressive peripheral neuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007141Sensorimotor neuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0000763Sensory neuropathy1RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007108Demyelinating peripheral neuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0003477Peripheral axonal neuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0006903Congenital peripheral neuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0012181Entrapment neuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0006949Episodic peripheral neuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0009831Mononeuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007178Motor polyneuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0032018Multiple mononeuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0001271Polyneuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007133Progressive peripheral neuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007141Sensorimotor neuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0000763Sensory neuropathy1RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007108Demyelinating peripheral neuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0003477Peripheral axonal neuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0006903Congenital peripheral neuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0012181Entrapment neuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0006949Episodic peripheral neuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0009831Mononeuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007178Motor polyneuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0032018Multiple mononeuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0001271Polyneuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007133Progressive peripheral neuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007141Sensorimotor neuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0000763Sensory neuropathy1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007108Demyelinating peripheral neuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0003477Peripheral axonal neuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0006903Congenital peripheral neuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0012181Entrapment neuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0006949Episodic peripheral neuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0009831Mononeuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007178Motor polyneuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0032018Multiple mononeuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0001271Polyneuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007133Progressive peripheral neuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007141Sensorimotor neuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0000763Sensory neuropathy1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0003477Peripheral axonal neuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0006903Congenital peripheral neuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0012181Entrapment neuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0006949Episodic peripheral neuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0009831Mononeuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007178Motor polyneuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0032018Multiple mononeuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0001271Polyneuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007133Progressive peripheral neuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007141Sensorimotor neuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0000763Sensory neuropathy1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0003477Peripheral axonal neuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0006903Congenital peripheral neuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0012181Entrapment neuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0006949Episodic peripheral neuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0009831Mononeuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007178Motor polyneuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0032018Multiple mononeuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0001271Polyneuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007133Progressive peripheral neuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007141Sensorimotor neuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0000763Sensory neuropathy1SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0003477Peripheral axonal neuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0006903Congenital peripheral neuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0012181Entrapment neuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0006949Episodic peripheral neuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0009831Mononeuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007178Motor polyneuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0032018Multiple mononeuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0001271Polyneuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007133Progressive peripheral neuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007141Sensorimotor neuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0000763Sensory neuropathy1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0003477Peripheral axonal neuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0006903Congenital peripheral neuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0012181Entrapment neuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0006949Episodic peripheral neuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0009831Mononeuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007178Motor polyneuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0032018Multiple mononeuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0001271Polyneuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007133Progressive peripheral neuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007141Sensorimotor neuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0000763Sensory neuropathy1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0003477Peripheral axonal neuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0006903Congenital peripheral neuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0012181Entrapment neuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0006949Episodic peripheral neuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0009831Mononeuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007178Motor polyneuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0032018Multiple mononeuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0001271Polyneuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007133Progressive peripheral neuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007141Sensorimotor neuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0000763Sensory neuropathy1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007108Demyelinating peripheral neuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0003477Peripheral axonal neuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0006903Congenital peripheral neuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0012181Entrapment neuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0006949Episodic peripheral neuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0009831Mononeuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007178Motor polyneuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0032018Multiple mononeuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0001271Polyneuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007133Progressive peripheral neuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007141Sensorimotor neuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0000763Sensory neuropathy1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0003477Peripheral axonal neuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0006903Congenital peripheral neuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0012181Entrapment neuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0006949Episodic peripheral neuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0009831Mononeuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007178Motor polyneuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0032018Multiple mononeuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0001271Polyneuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007133Progressive peripheral neuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007141Sensorimotor neuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0000763Sensory neuropathy1TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0003477Peripheral axonal neuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0006903Congenital peripheral neuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0012181Entrapment neuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0006949Episodic peripheral neuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0009831Mononeuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007178Motor polyneuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0032018Multiple mononeuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0001271Polyneuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007133Progressive peripheral neuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007141Sensorimotor neuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0000763Sensory neuropathy1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0003477Peripheral axonal neuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0006903Congenital peripheral neuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0012181Entrapment neuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0006949Episodic peripheral neuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0009831Mononeuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007178Motor polyneuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0032018Multiple mononeuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0001271Polyneuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007133Progressive peripheral neuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007141Sensorimotor neuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0000763Sensory neuropathy1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007108Demyelinating peripheral neuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0003477Peripheral axonal neuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0006903Congenital peripheral neuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0012181Entrapment neuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0006949Episodic peripheral neuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0009831Mononeuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007178Motor polyneuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0032018Multiple mononeuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0001271Polyneuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007133Progressive peripheral neuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007141Sensorimotor neuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0000763Sensory neuropathy1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007108Demyelinating peripheral neuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0003477Peripheral axonal neuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0006903Congenital peripheral neuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0012181Entrapment neuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0006949Episodic peripheral neuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0009831Mononeuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007178Motor polyneuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0032018Multiple mononeuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0001271Polyneuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007133Progressive peripheral neuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007141Sensorimotor neuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0000763Sensory neuropathy1WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007108Demyelinating peripheral neuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0003477Peripheral axonal neuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0006903Congenital peripheral neuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0012181Entrapment neuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0006949Episodic peripheral neuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0009831Mononeuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007178Motor polyneuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0032018Multiple mononeuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0001271Polyneuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007133Progressive peripheral neuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007141Sensorimotor neuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0000763Sensory neuropathy1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007108Demyelinating peripheral neuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0003477Peripheral axonal neuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0006903Congenital peripheral neuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0012181Entrapment neuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0006949Episodic peripheral neuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0009831Mononeuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007178Motor polyneuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0032018Multiple mononeuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0001271Polyneuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007133Progressive peripheral neuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007141Sensorimotor neuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0000763Sensory neuropathy1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007108Demyelinating peripheral neuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0003477Peripheral axonal neuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0006903Congenital peripheral neuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0012181Entrapment neuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0006949Episodic peripheral neuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0009831Mononeuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007178Motor polyneuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0032018Multiple mononeuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0001271Polyneuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007133Progressive peripheral neuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007141Sensorimotor neuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0000763Sensory neuropathy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007108Demyelinating peripheral neuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007327Mixed demyelinating and axonal polyneuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0003477Peripheral axonal neuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0003489Acute episodes of neuropathic symptoms1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0001301Chronic sensorineural polyneuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0006903Congenital peripheral neuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0012181Entrapment neuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0006949Episodic peripheral neuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0009831Mononeuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007178Motor polyneuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0032018Multiple mononeuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0001271Polyneuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007133Progressive peripheral neuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007141Sensorimotor neuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0006865Sensorimotor polyneuropathy affecting arms more than legs1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0000763Sensory neuropathy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007220Demyelinating motor neuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0011402Demyelinating sensory neuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007267Chronic axonal neuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007002Motor axonal neuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0003390Sensory axonal neuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0012185Constrictive median neuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0003409Distal sensory impairment of all modalities2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0003434Sensory ataxic neuropathy2ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007220Demyelinating motor neuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0011402Demyelinating sensory neuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007267Chronic axonal neuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007002Motor axonal neuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0003390Sensory axonal neuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0012185Constrictive median neuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0003409Distal sensory impairment of all modalities2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0003434Sensory ataxic neuropathy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0007131Acute demyelinating polyneuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007220Demyelinating motor neuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0011402Demyelinating sensory neuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007267Chronic axonal neuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007002Motor axonal neuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0003390Sensory axonal neuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0012185Constrictive median neuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007067Distal peripheral sensory neuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0003409Distal sensory impairment of all modalities2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0003434Sensory ataxic neuropathy2AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0007131Acute demyelinating polyneuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007220Demyelinating motor neuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0011402Demyelinating sensory neuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007267Chronic axonal neuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007002Motor axonal neuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0003390Sensory axonal neuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0012185Constrictive median neuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007067Distal peripheral sensory neuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0003409Distal sensory impairment of all modalities2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0003434Sensory ataxic neuropathy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0007131Acute demyelinating polyneuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007220Demyelinating motor neuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0011402Demyelinating sensory neuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007267Chronic axonal neuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007002Motor axonal neuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0003390Sensory axonal neuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0012185Constrictive median neuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007067Distal peripheral sensory neuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0003409Distal sensory impairment of all modalities2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0003434Sensory ataxic neuropathy2BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007220Demyelinating motor neuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0011402Demyelinating sensory neuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007267Chronic axonal neuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007002Motor axonal neuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0003390Sensory axonal neuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0012185Constrictive median neuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0003409Distal sensory impairment of all modalities2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0003434Sensory ataxic neuropathy2CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007220Demyelinating motor neuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0011402Demyelinating sensory neuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007267Chronic axonal neuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007002Motor axonal neuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0003390Sensory axonal neuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0012185Constrictive median neuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0003409Distal sensory impairment of all modalities2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0003434Sensory ataxic neuropathy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007220Demyelinating motor neuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0011402Demyelinating sensory neuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007267Chronic axonal neuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007002Motor axonal neuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0003390Sensory axonal neuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0012185Constrictive median neuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0003409Distal sensory impairment of all modalities2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0003434Sensory ataxic neuropathy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007220Demyelinating motor neuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0011402Demyelinating sensory neuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007267Chronic axonal neuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007002Motor axonal neuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0003390Sensory axonal neuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0012185Constrictive median neuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0003409Distal sensory impairment of all modalities2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0003434Sensory ataxic neuropathy2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007220Demyelinating motor neuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0011402Demyelinating sensory neuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007267Chronic axonal neuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007002Motor axonal neuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0003390Sensory axonal neuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0012185Constrictive median neuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0003409Distal sensory impairment of all modalities2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0003434Sensory ataxic neuropathy2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0007131Acute demyelinating polyneuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007220Demyelinating motor neuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0011402Demyelinating sensory neuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007267Chronic axonal neuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007002Motor axonal neuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0003390Sensory axonal neuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0012185Constrictive median neuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007067Distal peripheral sensory neuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0003409Distal sensory impairment of all modalities2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0003434Sensory ataxic neuropathy2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0007131Acute demyelinating polyneuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007220Demyelinating motor neuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0011402Demyelinating sensory neuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007267Chronic axonal neuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007002Motor axonal neuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0003390Sensory axonal neuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0012185Constrictive median neuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007067Distal peripheral sensory neuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0003409Distal sensory impairment of all modalities2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0003434Sensory ataxic neuropathy2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0007131Acute demyelinating polyneuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007220Demyelinating motor neuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0011402Demyelinating sensory neuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007267Chronic axonal neuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007002Motor axonal neuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0003390Sensory axonal neuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0012185Constrictive median neuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007067Distal peripheral sensory neuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0003409Distal sensory impairment of all modalities2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0003434Sensory ataxic neuropathy2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007220Demyelinating motor neuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0011402Demyelinating sensory neuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007267Chronic axonal neuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007002Motor axonal neuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0003390Sensory axonal neuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0012185Constrictive median neuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0003409Distal sensory impairment of all modalities2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0003434Sensory ataxic neuropathy2ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007220Demyelinating motor neuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0011402Demyelinating sensory neuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007267Chronic axonal neuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007002Motor axonal neuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0003390Sensory axonal neuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0012185Constrictive median neuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0003409Distal sensory impairment of all modalities2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0003434Sensory ataxic neuropathy2ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007220Demyelinating motor neuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0011402Demyelinating sensory neuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007267Chronic axonal neuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007002Motor axonal neuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0003390Sensory axonal neuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0012185Constrictive median neuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0003409Distal sensory impairment of all modalities2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0003434Sensory ataxic neuropathy2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007220Demyelinating motor neuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0011402Demyelinating sensory neuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007267Chronic axonal neuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007002Motor axonal neuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0003390Sensory axonal neuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0012185Constrictive median neuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0003409Distal sensory impairment of all modalities2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0003434Sensory ataxic neuropathy2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007220Demyelinating motor neuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0011402Demyelinating sensory neuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007267Chronic axonal neuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007002Motor axonal neuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0003390Sensory axonal neuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0012185Constrictive median neuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0003409Distal sensory impairment of all modalities2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0003434Sensory ataxic neuropathy2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007220Demyelinating motor neuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0011402Demyelinating sensory neuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007267Chronic axonal neuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007002Motor axonal neuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0003390Sensory axonal neuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0012185Constrictive median neuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0003409Distal sensory impairment of all modalities2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0003434Sensory ataxic neuropathy2ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007220Demyelinating motor neuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0011402Demyelinating sensory neuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007267Chronic axonal neuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007002Motor axonal neuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0003390Sensory axonal neuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0012185Constrictive median neuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0003409Distal sensory impairment of all modalities2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0003434Sensory ataxic neuropathy2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0007131Acute demyelinating polyneuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007220Demyelinating motor neuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0011402Demyelinating sensory neuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007267Chronic axonal neuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007002Motor axonal neuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0003390Sensory axonal neuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0012185Constrictive median neuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007067Distal peripheral sensory neuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0003409Distal sensory impairment of all modalities2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0003434Sensory ataxic neuropathy2ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0007131Acute demyelinating polyneuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007220Demyelinating motor neuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0011402Demyelinating sensory neuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007267Chronic axonal neuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007002Motor axonal neuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0003390Sensory axonal neuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0012185Constrictive median neuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007067Distal peripheral sensory neuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0003409Distal sensory impairment of all modalities2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0003434Sensory ataxic neuropathy2FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0007131Acute demyelinating polyneuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007220Demyelinating motor neuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0011402Demyelinating sensory neuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007267Chronic axonal neuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007002Motor axonal neuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0003390Sensory axonal neuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0012185Constrictive median neuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007067Distal peripheral sensory neuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0003409Distal sensory impairment of all modalities2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0003434Sensory ataxic neuropathy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007220Demyelinating motor neuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0011402Demyelinating sensory neuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007267Chronic axonal neuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007002Motor axonal neuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0003390Sensory axonal neuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0012185Constrictive median neuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0003409Distal sensory impairment of all modalities2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0003434Sensory ataxic neuropathy2HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007220Demyelinating motor neuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0011402Demyelinating sensory neuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007267Chronic axonal neuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007002Motor axonal neuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0003390Sensory axonal neuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0012185Constrictive median neuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0003409Distal sensory impairment of all modalities2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0003434Sensory ataxic neuropathy2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007220Demyelinating motor neuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0011402Demyelinating sensory neuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007267Chronic axonal neuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007002Motor axonal neuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0003390Sensory axonal neuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0012185Constrictive median neuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0003409Distal sensory impairment of all modalities2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0003434Sensory ataxic neuropathy2HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007220Demyelinating motor neuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0011402Demyelinating sensory neuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007267Chronic axonal neuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007002Motor axonal neuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0003390Sensory axonal neuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0012185Constrictive median neuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0003409Distal sensory impairment of all modalities2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0003434Sensory ataxic neuropathy2HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0007131Acute demyelinating polyneuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007220Demyelinating motor neuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0011402Demyelinating sensory neuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007267Chronic axonal neuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007002Motor axonal neuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0003390Sensory axonal neuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0012185Constrictive median neuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007067Distal peripheral sensory neuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0003409Distal sensory impairment of all modalities2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0003434Sensory ataxic neuropathy2HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0007131Acute demyelinating polyneuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007220Demyelinating motor neuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0011402Demyelinating sensory neuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007267Chronic axonal neuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007002Motor axonal neuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0003390Sensory axonal neuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0012185Constrictive median neuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007067Distal peripheral sensory neuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0003409Distal sensory impairment of all modalities2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0003434Sensory ataxic neuropathy2INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0007131Acute demyelinating polyneuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007220Demyelinating motor neuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0011402Demyelinating sensory neuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007267Chronic axonal neuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007002Motor axonal neuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0003390Sensory axonal neuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0012185Constrictive median neuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007067Distal peripheral sensory neuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0003409Distal sensory impairment of all modalities2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0003434Sensory ataxic neuropathy2KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0007131Acute demyelinating polyneuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007220Demyelinating motor neuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0011402Demyelinating sensory neuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007267Chronic axonal neuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007002Motor axonal neuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0003390Sensory axonal neuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0012185Constrictive median neuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007067Distal peripheral sensory neuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0003409Distal sensory impairment of all modalities2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0003434Sensory ataxic neuropathy2KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0007131Acute demyelinating polyneuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007220Demyelinating motor neuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0011402Demyelinating sensory neuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007267Chronic axonal neuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007002Motor axonal neuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0003390Sensory axonal neuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0012185Constrictive median neuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007067Distal peripheral sensory neuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0003409Distal sensory impairment of all modalities2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0003434Sensory ataxic neuropathy2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007220Demyelinating motor neuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0011402Demyelinating sensory neuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007267Chronic axonal neuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007002Motor axonal neuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0003390Sensory axonal neuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0012185Constrictive median neuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0003409Distal sensory impairment of all modalities2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0003434Sensory ataxic neuropathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007267Chronic axonal neuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007002Motor axonal neuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0003390Sensory axonal neuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0012185Constrictive median neuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007267Chronic axonal neuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007002Motor axonal neuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0003390Sensory axonal neuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0012185Constrictive median neuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007267Chronic axonal neuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007002Motor axonal neuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0003390Sensory axonal neuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0012185Constrictive median neuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007267Chronic axonal neuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007002Motor axonal neuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0003390Sensory axonal neuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0012185Constrictive median neuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007267Chronic axonal neuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007002Motor axonal neuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0003390Sensory axonal neuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0012185Constrictive median neuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007267Chronic axonal neuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007002Motor axonal neuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0003390Sensory axonal neuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0012185Constrictive median neuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007267Chronic axonal neuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007002Motor axonal neuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0003390Sensory axonal neuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0012185Constrictive median neuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007267Chronic axonal neuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007002Motor axonal neuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0003390Sensory axonal neuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0012185Constrictive median neuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007267Chronic axonal neuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007002Motor axonal neuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0003390Sensory axonal neuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0012185Constrictive median neuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007267Chronic axonal neuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007002Motor axonal neuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0003390Sensory axonal neuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0012185Constrictive median neuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007220Demyelinating motor neuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0011402Demyelinating sensory neuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007267Chronic axonal neuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007002Motor axonal neuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0003390Sensory axonal neuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0012185Constrictive median neuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0003409Distal sensory impairment of all modalities2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0003434Sensory ataxic neuropathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0007131Acute demyelinating polyneuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007220Demyelinating motor neuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0011402Demyelinating sensory neuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007267Chronic axonal neuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007002Motor axonal neuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0003390Sensory axonal neuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0012185Constrictive median neuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007067Distal peripheral sensory neuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0003409Distal sensory impairment of all modalities2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0003434Sensory ataxic neuropathy2MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007220Demyelinating motor neuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0011402Demyelinating sensory neuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007267Chronic axonal neuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007002Motor axonal neuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0003390Sensory axonal neuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0012185Constrictive median neuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0003409Distal sensory impairment of all modalities2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0003434Sensory ataxic neuropathy2NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007220Demyelinating motor neuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0011402Demyelinating sensory neuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007267Chronic axonal neuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007002Motor axonal neuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0003390Sensory axonal neuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0012185Constrictive median neuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0003409Distal sensory impairment of all modalities2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0003434Sensory ataxic neuropathy2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007220Demyelinating motor neuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0011402Demyelinating sensory neuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007267Chronic axonal neuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007002Motor axonal neuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0003390Sensory axonal neuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0012185Constrictive median neuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0003409Distal sensory impairment of all modalities2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0003434Sensory ataxic neuropathy2NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0007131Acute demyelinating polyneuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007220Demyelinating motor neuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0011402Demyelinating sensory neuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007267Chronic axonal neuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007002Motor axonal neuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0003390Sensory axonal neuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0012185Constrictive median neuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007067Distal peripheral sensory neuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0003409Distal sensory impairment of all modalities2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0003434Sensory ataxic neuropathy2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007220Demyelinating motor neuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0011402Demyelinating sensory neuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007267Chronic axonal neuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007002Motor axonal neuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0003390Sensory axonal neuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0012185Constrictive median neuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0003409Distal sensory impairment of all modalities2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0003434Sensory ataxic neuropathy2PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0007131Acute demyelinating polyneuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007220Demyelinating motor neuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0011402Demyelinating sensory neuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007267Chronic axonal neuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007002Motor axonal neuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0003390Sensory axonal neuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0012185Constrictive median neuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007067Distal peripheral sensory neuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0003409Distal sensory impairment of all modalities2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0003434Sensory ataxic neuropathy2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0007131Acute demyelinating polyneuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007220Demyelinating motor neuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0011402Demyelinating sensory neuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007267Chronic axonal neuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007002Motor axonal neuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0003390Sensory axonal neuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0012185Constrictive median neuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007067Distal peripheral sensory neuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0003409Distal sensory impairment of all modalities2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0003434Sensory ataxic neuropathy2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0007131Acute demyelinating polyneuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007220Demyelinating motor neuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0011402Demyelinating sensory neuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007267Chronic axonal neuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007002Motor axonal neuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0003390Sensory axonal neuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0012185Constrictive median neuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007067Distal peripheral sensory neuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0003409Distal sensory impairment of all modalities2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0003434Sensory ataxic neuropathy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0007131Acute demyelinating polyneuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007220Demyelinating motor neuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0011402Demyelinating sensory neuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007267Chronic axonal neuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007002Motor axonal neuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0003390Sensory axonal neuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0012185Constrictive median neuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007067Distal peripheral sensory neuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0003409Distal sensory impairment of all modalities2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0003434Sensory ataxic neuropathy2RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0007131Acute demyelinating polyneuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007220Demyelinating motor neuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0011402Demyelinating sensory neuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007267Chronic axonal neuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007002Motor axonal neuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0003390Sensory axonal neuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0012185Constrictive median neuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007067Distal peripheral sensory neuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0003409Distal sensory impairment of all modalities2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0003434Sensory ataxic neuropathy2RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0007131Acute demyelinating polyneuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007220Demyelinating motor neuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0011402Demyelinating sensory neuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007267Chronic axonal neuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007002Motor axonal neuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0003390Sensory axonal neuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0012185Constrictive median neuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007067Distal peripheral sensory neuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0003409Distal sensory impairment of all modalities2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0003434Sensory ataxic neuropathy2RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0007131Acute demyelinating polyneuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007220Demyelinating motor neuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0011402Demyelinating sensory neuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007267Chronic axonal neuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007002Motor axonal neuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0003390Sensory axonal neuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0012185Constrictive median neuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007067Distal peripheral sensory neuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0003409Distal sensory impairment of all modalities2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0003434Sensory ataxic neuropathy2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0007131Acute demyelinating polyneuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007220Demyelinating motor neuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0011402Demyelinating sensory neuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007267Chronic axonal neuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007002Motor axonal neuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0003390Sensory axonal neuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0012185Constrictive median neuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007067Distal peripheral sensory neuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0003409Distal sensory impairment of all modalities2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0003434Sensory ataxic neuropathy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007220Demyelinating motor neuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0011402Demyelinating sensory neuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007267Chronic axonal neuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007002Motor axonal neuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0003390Sensory axonal neuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0012185Constrictive median neuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0003409Distal sensory impairment of all modalities2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0003434Sensory ataxic neuropathy2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007220Demyelinating motor neuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0011402Demyelinating sensory neuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007267Chronic axonal neuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007002Motor axonal neuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0003390Sensory axonal neuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0012185Constrictive median neuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0003409Distal sensory impairment of all modalities2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0003434Sensory ataxic neuropathy2SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007220Demyelinating motor neuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0011402Demyelinating sensory neuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007267Chronic axonal neuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007002Motor axonal neuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0003390Sensory axonal neuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0012185Constrictive median neuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0003409Distal sensory impairment of all modalities2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0003434Sensory ataxic neuropathy2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007220Demyelinating motor neuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0011402Demyelinating sensory neuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007267Chronic axonal neuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007002Motor axonal neuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0003390Sensory axonal neuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0012185Constrictive median neuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0003409Distal sensory impairment of all modalities2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0003434Sensory ataxic neuropathy2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007220Demyelinating motor neuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0011402Demyelinating sensory neuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007267Chronic axonal neuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007002Motor axonal neuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0003390Sensory axonal neuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0012185Constrictive median neuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0003409Distal sensory impairment of all modalities2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0003434Sensory ataxic neuropathy2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0007131Acute demyelinating polyneuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007220Demyelinating motor neuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0011402Demyelinating sensory neuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007267Chronic axonal neuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007002Motor axonal neuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0003390Sensory axonal neuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0012185Constrictive median neuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007067Distal peripheral sensory neuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0003409Distal sensory impairment of all modalities2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0003434Sensory ataxic neuropathy2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007220Demyelinating motor neuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0011402Demyelinating sensory neuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007267Chronic axonal neuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007002Motor axonal neuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0003390Sensory axonal neuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0012185Constrictive median neuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0003409Distal sensory impairment of all modalities2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0003434Sensory ataxic neuropathy2TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007220Demyelinating motor neuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0011402Demyelinating sensory neuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007267Chronic axonal neuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007002Motor axonal neuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0003390Sensory axonal neuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0012185Constrictive median neuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0003409Distal sensory impairment of all modalities2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0003434Sensory ataxic neuropathy2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007220Demyelinating motor neuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0011402Demyelinating sensory neuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007267Chronic axonal neuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007002Motor axonal neuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0003390Sensory axonal neuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0012185Constrictive median neuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0003409Distal sensory impairment of all modalities2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0003434Sensory ataxic neuropathy2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0007131Acute demyelinating polyneuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007220Demyelinating motor neuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0011402Demyelinating sensory neuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007267Chronic axonal neuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007002Motor axonal neuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0003390Sensory axonal neuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0012185Constrictive median neuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007067Distal peripheral sensory neuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0003409Distal sensory impairment of all modalities2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0003434Sensory ataxic neuropathy2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0007131Acute demyelinating polyneuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007220Demyelinating motor neuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0011402Demyelinating sensory neuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007267Chronic axonal neuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007002Motor axonal neuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0003390Sensory axonal neuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0012185Constrictive median neuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007067Distal peripheral sensory neuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0003409Distal sensory impairment of all modalities2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0003434Sensory ataxic neuropathy2WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0007131Acute demyelinating polyneuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007220Demyelinating motor neuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0011402Demyelinating sensory neuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007267Chronic axonal neuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007002Motor axonal neuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0003390Sensory axonal neuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0012185Constrictive median neuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007067Distal peripheral sensory neuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0003409Distal sensory impairment of all modalities2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0003434Sensory ataxic neuropathy2WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0007131Acute demyelinating polyneuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007220Demyelinating motor neuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0011402Demyelinating sensory neuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007267Chronic axonal neuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007002Motor axonal neuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0003390Sensory axonal neuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0012185Constrictive median neuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007067Distal peripheral sensory neuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0003409Distal sensory impairment of all modalities2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0003434Sensory ataxic neuropathy2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0007131Acute demyelinating polyneuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007220Demyelinating motor neuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0011402Demyelinating sensory neuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007267Chronic axonal neuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007002Motor axonal neuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0003390Sensory axonal neuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0012185Constrictive median neuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007067Distal peripheral sensory neuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0003409Distal sensory impairment of all modalities2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0003434Sensory ataxic neuropathy2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0007131Acute demyelinating polyneuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007220Demyelinating motor neuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0011402Demyelinating sensory neuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007267Chronic axonal neuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007002Motor axonal neuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0003390Sensory axonal neuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0012185Constrictive median neuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0012216Entrapment neuropathy of suprascapular nerve2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0012186Entrapment neuropathy of the ulnar nerve at elbow2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0007067Distal peripheral sensory neuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0003409Distal sensory impairment of all modalities2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0003434Sensory ataxic neuropathy2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0009830HP:0006984Distal sensory loss of all modalities3ABCC8 CL E G H683379134ORPHA0189259600509
HP:0009830HP:0006984Distal sensory loss of all modalities3AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0009830HP:0006984Distal sensory loss of all modalities3AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0009830HP:0006984Distal sensory loss of all modalities3BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0009830HP:0006984Distal sensory loss of all modalities3BTNL2 CL E G H56244797ORPHA0301142606000
HP:0009830HP:0006984Distal sensory loss of all modalities3CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0009830HP:0006984Distal sensory loss of all modalities3CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0009830HP:0006984Distal sensory loss of all modalities3CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0009830HP:0006984Distal sensory loss of all modalities3CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0401653186760
HP:0009830HP:0006984Distal sensory loss of all modalities3CISD2 CL E G H4938563463ORPHA07124212611507
HP:0009830HP:0006984Distal sensory loss of all modalities3CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA02322505123890
HP:0009830HP:0006984Distal sensory loss of all modalities3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0009830HP:0006984Distal sensory loss of all modalities3DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM017129043612666
HP:0009830HP:0006984Distal sensory loss of all modalities3ERCC1 CL E G H20671466ORPHA01613433126380
HP:0009830HP:0006984Distal sensory loss of all modalities3ERCC2 CL E G H20681466ORPHA015723434126340
HP:0009830HP:0006984Distal sensory loss of all modalities3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0009830HP:0006984Distal sensory loss of all modalities3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0009830HP:0006984Distal sensory loss of all modalities3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0009830HP:0006984Distal sensory loss of all modalities3ERCC5 CL E G H20731466ORPHA04913437133530
HP:0009830HP:0006984Distal sensory loss of all modalities3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0009830HP:0006984Distal sensory loss of all modalities3ERCC6 CL E G H20741466ORPHA016453438609413
HP:0009830HP:0006984Distal sensory loss of all modalities3FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM066193603134797
HP:0009830HP:0006984Distal sensory loss of all modalities3FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0009830HP:0006984Distal sensory loss of all modalities3HADH CL E G H303371212ORPHA02294799601609
HP:0009830HP:0006984Distal sensory loss of all modalities3HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0009830HP:0006984Distal sensory loss of all modalities3HFE CL E G H3077465508ORPHA02374886613609
HP:0009830HP:0006984Distal sensory loss of all modalities3HLA-DRB1 CL E G H3123797ORPHA0414948142857
HP:0009830HP:0006984Distal sensory loss of all modalities3HSD3B7 CL E G H8027079301ORPHA013918324607764
HP:0009830HP:0006984Distal sensory loss of all modalities3INPP5K CL E G H51763559ORPHA018733882607875
HP:0009830HP:0006984Distal sensory loss of all modalities3KCNJ11 CL E G H376779134ORPHA04356257600937
HP:0009830HP:0006984Distal sensory loss of all modalities3KIF1C CL E G H10749397946ORPHA05796317603060
HP:0009830HP:0006984Distal sensory loss of all modalities3KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0009830HP:0006984Distal sensory loss of all modalities3MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-ATP6 CL E G H4508104ORPHA07414516060
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-CO1 CL E G H4512104ORPHA07419516030
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-CO3 CL E G H4514104ORPHA07422516050
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-CYB CL E G H4519104ORPHA07427516020
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-ND1 CL E G H4535104ORPHA07455516000
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-ND2 CL E G H4536104ORPHA07456516001
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-ND4 CL E G H4538104ORPHA07459516003
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-ND4L CL E G H4539104ORPHA07460516004
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-ND5 CL E G H4540104ORPHA07461516005
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-ND6 CL E G H4541104ORPHA07462516006
HP:0009830HP:0006984Distal sensory loss of all modalities3MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0009830HP:0006984Distal sensory loss of all modalities3MYD88 CL E G H461533226ORPHA01417562602170
HP:0009830HP:0006984Distal sensory loss of all modalities3NDUFS2 CL E G H4720104ORPHA02477708602985
HP:0009830HP:0006984Distal sensory loss of all modalities3NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0009830HP:0006984Distal sensory loss of all modalities3NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0009830HP:0006984Distal sensory loss of all modalities3NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM013437883600276
HP:0009830HP:0006984Distal sensory loss of all modalities3PHF6 CL E G H84295127ORPHA032218145300414
HP:0009830HP:0006984Distal sensory loss of all modalities3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM0102530074614258
HP:0009830HP:0006984Distal sensory loss of all modalities3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM051030348614366
HP:0009830HP:0006984Distal sensory loss of all modalities3PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0009830HP:0006984Distal sensory loss of all modalities3RAB18 CL E G H229312510ORPHA019114244602207
HP:0009830HP:0006984Distal sensory loss of all modalities3RAB3GAP1 CL E G H229302510ORPHA045917063602536
HP:0009830HP:0006984Distal sensory loss of all modalities3RAB3GAP2 CL E G H257822510ORPHA067117168609275
HP:0009830HP:0006984Distal sensory loss of all modalities3RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0009830HP:0006984Distal sensory loss of all modalities3RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0009830HP:0006984Distal sensory loss of all modalities3SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0009830HP:0006984Distal sensory loss of all modalities3SIL1 CL E G H64374559ORPHA035224624608005
HP:0009830HP:0006984Distal sensory loss of all modalities3SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0009830HP:0006984Distal sensory loss of all modalities3SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0009830HP:0006984Distal sensory loss of all modalities3SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0009830HP:0006984Distal sensory loss of all modalities3SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0009830HP:0006984Distal sensory loss of all modalities3TBC1D20 CL E G H1286372510ORPHA019516133611663
HP:0009830HP:0006984Distal sensory loss of all modalities3TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0009830HP:0006984Distal sensory loss of all modalities3TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA06611917191191
HP:0009830HP:0006984Distal sensory loss of all modalities3TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0009830HP:0006984Distal sensory loss of all modalities3WAS CL E G H7454906ORPHA060312731300392
HP:0009830HP:0006984Distal sensory loss of all modalities3WFS1 CL E G H74663463ORPHA0163412762606201
HP:0009830HP:0006984Distal sensory loss of all modalities3WIPF1 CL E G H7456906ORPHA027912736602357
HP:0009830HP:0006984Distal sensory loss of all modalities3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0009830HP:0006984Distal sensory loss of all modalities3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208


Genes (366) :AAAS AARS ABCA1 ABCC8 ABCD1 ABHD12 ACER3 ACO2 ADA2 ADAR AFG3L2 AGPAT2 AGRN AGXT AHCY AIFM1 ALAD ALDH18A1 ALS2 AMACR AMPD2 AP1S1 AP5Z1 APTX AR ARL6IP1 ARSA ARSB ARSI ASCC1 ATAD3A ATL1 ATL3 ATP13A2 ATP1A1 ATP5F1E ATP6 ATP7B ATXN3 ATXN8 ATXN8OS B2M B4GALNT1 BAG3 BIN1 BRAF BSCL2 BTNL2 C12ORF65 C19ORF12 CA2 CACNA1A CAPN1 CAV1 CAVIN1 CCT5 CD28 CD59 CHAT CISD2 CLCF1 CLP1 COA8 COASY COL13A1 COMP COQ7 COX1 COX15 COX3 CPOX CTDP1 CTLA4 CTSD CYP27A1 CYP2U1 CYP7B1 CYTB DARS2 DCAF8 DDB2 DDHD1 DGUOK DHH DKK1 DMXL2 DNAJC3 DNASE1L3 DNM2 DNMT1 DST DSTYK DYNC1H1 ECHS1 EDNRB EGR2 ELOVL4 ELOVL5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 FAH FAM126A FBLN5 FBN1 FGF14 FLRT1 FOS FOXRED1 FUCA1 FUS FXN GALC GAN GARS GBA2 GBE1 GCK GCLC GDAP1 GJB1 GJC2 GMPPA GNAS GNPTAB GRM1 GSN HADH HADHA HADHB HARS HDAC8 HFE HINT1 HK1 HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HSD17B4 HSD3B7 HSPB1 HSPB3 HSPB8 IARS2 IBA57 IDUA IFIH1 IFRD1 IGHMBP2 INPP5K INS INSR KCNJ10 KCNJ11 KIF1A KIF1B KIF1C KLC2 KLHL9 KMT2A KRAS LAMA2 LDB3 LIPT1 LYST MAG MANBA MARS MCM3AP MFF MFN2 MICU1 MME MPC1 MPV17 MPZ MRE11 MTFMT MTMR14 MYD88 MYF6 MYH14 MYO9A MYOT NAGA ND1 ND2 ND4 ND4L ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEFH NEFL NF2 NGLY1 NIPBL NOTCH2 NOTCH3 OPA1 PDE4D PDHA1 PDK3 PDSS1 PDX1 PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX5 PEX6 PEX7 PHF6 PHYH PIEZO2 PIK3R5 PLD3 PLEKHG4 PLP1 PMM2 PMP22 PNKP PNPLA6 POLG POLG2 POLR3A POLR3B PPARG PPOX PPP2R2B PRICKLE1 PRKAR1A PRPS1 PRTN3 PSAP PTPN22 RAB18 RAB3GAP1 RAB3GAP2 RAB7A RAD21 REEP1 RETREG1 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF168 RNF170 RPIA RRM2B RYR1 SACS SAMHD1 SCN10A SCN11A SCN9A SCO2 SCP2 SCYL1 SDHA SEPT9 SEPTIN9 SERPING1 SETD5 SETX SH3TC2 SIGMAR1 SIL1 SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A19 SLC25A4 SLC30A10 SLC46A1 SLC52A2 SLC52A3 SLC5A7 SMC1A SMC3 SNAP25 SNAP29 SOX10 SPG11 SPG21 SPG7 SPTBN4 SPTLC1 SPTLC2 STAT3 SUCLA2 SURF1 SYT2 TACO1 TBC1D20 TBC1D24 TBCE TDP1 TFG TGFB1 TK2 TMPRSS6 TNFRSF1B TNXB TPI1 TRAPPC11 TREX1 TRIM2 TRIP4 TRNE TRNK TRPV4 TTBK2 TTPA TTR TUBB3 TWNK TXN2 TYMP UCHL1 VAMP1 VCP VHL VPS13A VPS13D WAS WDR48 WFS1 WIPF1 WNK1 XK XPA XPC XRCC1 XRCC4 ZFR ZFYVE26

Diseases (370) :616339 79134 606176 617762 615688 528 259900 79095 171851 609313 306511 613647 1168 313200 614053 104 276238 276241 608768 600794 797 2785 488594 616907 3162 3463 255241 121300 909 213700 910 616192 270750 607678 605253 1466 184900 608340 302800 71212 5 609015 199 465508 605285 79301 608634 613376 436174 559 769 201300 614213 118210 397946 352723 616680 401835 617086 614741 118200 33226 397744 614369 98911 79280 101000 955 125310 125250 950 614651 616716 773 127 118220 162500 616267 607694 176200 301835 1187 2510 614922 90026 613724 162100 309854 90045 229050 211530 158580 66631 609528 163746 2822 248900 612073 616684 79500 604484 209981 615512 1349 98767 115430 616811 2388 906 401840 613287 31150 205400 99885 300100 612674 614559 51 313772 614487 98914 88618 101078 300816 310490 100924 447757 601162 247604 300605 614307 615809 99429 401780 615685 309271 309263 309256 250100 401815 616867 496790 617183 613708 618036 320360 644 535000 551500 277900 276244 101006 612954 169189 115150 139536 613559 615035 183086 256840 612300 610313 411493 436271 397725 177170 616733 604168 900 320411 100986 611105 610100 609340 251880 617070 168563 607080 616113 445062 36412 314404 614116 614653 614563 277580 133190 615957 220295 133540 216400 276700 610532 608895 320406 230000 229300 245200 352641 320391 263570 230450 101075 1175 324262 105120 746 488333 324442 176000 233400 99940 608673 616007 468661 616451 98771 616155 101010 614255 610357 399081 615278 258 609452 214500 248510 616280 618124 617087 401768 615673 497764 617017 256810 101082 251347 153600 609200 609242 616924 617882 637 615273 136 300905 610245 3220 614920 266510 95433 266500 64753 615217 99015 212065 275400 254892 298 79473 98762 604326 99014 311070 249900 600882 613115 329336 420741 608611 98 521411 616719 2901 106100 606002 613353 218000 613710 613280 614707 609136 616668 604360 617519 613640 220500 496756 617207 94124 607250 431329 615658 1328 230839 615490 616866 2596 606071 156530 181405 96 85447 105210 600638 615491 892 200150 607317 411590 617633 616541 100996 270700 869 231550 238329 300614 253200 615632 513436 314652 289560 139578 615643 48431 610127 329314 268882 98764 609307 95 256850 608804 79444 79443 252600 137200 52430 606595 607014 607016 612780 609541 99947 601152 247815 617146 617770 98765 101081 98916 139393 139480 70595 254886 157640 258450 613662 94125 607459 612437 608984 35689 162400 609286 271245 616138 401800 300842
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.