Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Encephalopathy (HP:0001298)help
Term ID: 1298
Name: Encephalopathy
Synonym:
Definition: Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Comments:
Reference: HP:0001298
Genes and Diseases:
 
       Child Nodes:
........expandProgressive encephalopathy (HP:0002448) help
........expandHepatic encephalopathy (HP:0002480) help
................... HP:0007111 Chronic hepatic encephalopathy
........expandMitochondrial encephalopathy (HP:0006789) help
........expandAcute encephalopathy (HP:0006846) help
................... HP:0006965 Acute necrotizing encephalopathy
........expandHypoglycemic encephalopathy (HP:0006929) help
........expandNecrotizing encephalopathy (HP:0006976) help
........expandNonprogressive encephalopathy (HP:0007030) help
................... HP:0007069 Profound static encephalopathy
........expandInfantile encephalopathy (HP:0007105) help
........expandCongenital encephalopathy (HP:0007239) help
........expandRecurrent encephalopathy (HP:0007335) help
........expandEpileptic encephalopathy (HP:0200134) help

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001298HP:0001298Encephalopathy0AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0001298Encephalopathy0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0001298Encephalopathy0ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0001298Encephalopathy0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0001298Encephalopathy0ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0001298Encephalopathy0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0001298Encephalopathy0AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0001298Encephalopathy0ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0001298Encephalopathy0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0001298Encephalopathy0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0001298Encephalopathy0ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0001298Encephalopathy0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0001298Encephalopathy0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0001298Encephalopathy0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0001298Encephalopathy0ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0001298Encephalopathy0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0001298Encephalopathy0CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0001298Encephalopathy0CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0001298Encephalopathy0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0001298Encephalopathy0CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0001298Encephalopathy0CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0001298Encephalopathy0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0001298Encephalopathy0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0001298Encephalopathy0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0001298Encephalopathy0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0001298Encephalopathy0CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0001298Encephalopathy0CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0001298Encephalopathy0CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0001298Encephalopathy0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0001298Encephalopathy0DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0001298Encephalopathy0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0001298Encephalopathy0DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0001298Encephalopathy0DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0001298Encephalopathy0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0001298Encephalopathy0EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0001298Encephalopathy0ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0001298Encephalopathy0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0001298Encephalopathy0FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0001298Encephalopathy0FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0001298Encephalopathy0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0001298Encephalopathy0FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0001298Encephalopathy0GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0001298Encephalopathy0GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0001298Encephalopathy0GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0001298Encephalopathy0GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0001298Encephalopathy0GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0001298Encephalopathy0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0001298Encephalopathy0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0001298Encephalopathy0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0001298Encephalopathy0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0001298Encephalopathy0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0001298Encephalopathy0GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0001298Encephalopathy0HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0001298Encephalopathy0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0001298Encephalopathy0ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0001298Encephalopathy0KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0001298Encephalopathy0KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0001298Encephalopathy0KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0001298Encephalopathy0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0001298Encephalopathy0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0001298Encephalopathy0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0001298Encephalopathy0MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0001298Encephalopathy0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0001298Encephalopathy0MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0001298Encephalopathy0MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0001298Encephalopathy0MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0001298Encephalopathy0MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0001298Encephalopathy0MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0001298Encephalopathy0MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0001298Encephalopathy0MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0001298Encephalopathy0MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0001298Encephalopathy0MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0001298Encephalopathy0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0001298Encephalopathy0MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0001298Encephalopathy0MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0001298Encephalopathy0MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0001298Encephalopathy0MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0001298Encephalopathy0MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0001298Encephalopathy0MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0001298Encephalopathy0MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0001298Encephalopathy0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0001298Encephalopathy0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0001298Encephalopathy0NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0001298Encephalopathy0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0001298Encephalopathy0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0001298Encephalopathy0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0001298Encephalopathy0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0001298Encephalopathy0NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0001298Encephalopathy0NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0001298Encephalopathy0NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0001298Encephalopathy0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0001298Encephalopathy0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0001298Encephalopathy0NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0001298Encephalopathy0NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0001298Encephalopathy0NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0001298Encephalopathy0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0001298Encephalopathy0PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0001298Encephalopathy0PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0001298Encephalopathy0RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0001298Encephalopathy0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0001298Encephalopathy0SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0001298Encephalopathy0SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0001298Encephalopathy0SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0001298Encephalopathy0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0001298Encephalopathy0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0001298Encephalopathy0SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0001298Encephalopathy0SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0001298Encephalopathy0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0001298Encephalopathy0SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0001298Encephalopathy0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0001298Encephalopathy0SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0001298Encephalopathy0SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0001298Encephalopathy0SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0001298Encephalopathy0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0001298Encephalopathy0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0001298Encephalopathy0STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0001298Encephalopathy0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0001298Encephalopathy0SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0001298Encephalopathy0SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0001298Encephalopathy0SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0001298Encephalopathy0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0001298Encephalopathy0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0001298Encephalopathy0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0001298Encephalopathy0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0001298Encephalopathy0TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0001298Encephalopathy0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0001298Encephalopathy0TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0001298Encephalopathy0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0001298Encephalopathy0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0001298Encephalopathy0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0001298Encephalopathy0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0001298Encephalopathy0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0001298Encephalopathy0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0001298Encephalopathy0UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0001298Encephalopathy0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0001298Encephalopathy0UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0001298Encephalopathy0WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0001298Encephalopathy0YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0006976Necrotizing encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007335Recurrent encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0006846Acute encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0002480Hepatic encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0006789Mitochondrial encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0002448Progressive encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0200134Epileptic encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007105Infantile encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007239Congenital encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0006929Hypoglycemic encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007030Nonprogressive encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007030Nonprogressive encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007239Congenital encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006929Hypoglycemic encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006976Necrotizing encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007335Recurrent encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0002448Progressive encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006846Acute encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0002480Hepatic encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006789Mitochondrial encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0200134Epileptic encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007105Infantile encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007030Nonprogressive encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0007239Congenital encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0006976Necrotizing encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0007335Recurrent encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0006789Mitochondrial encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0002448Progressive encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0006846Acute encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0002480Hepatic encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0200134Epileptic encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0007105Infantile encephalopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0002480Hepatic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0006789Mitochondrial encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0002448Progressive encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0006846Acute encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0007105Infantile encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0200134Epileptic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0007030Nonprogressive encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0007239Congenital encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0006976Necrotizing encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0007335Recurrent encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0200134Epileptic encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0007105Infantile encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0007239Congenital encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0007030Nonprogressive encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0007335Recurrent encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0006976Necrotizing encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0002448Progressive encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0006846Acute encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0002480Hepatic encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0006789Mitochondrial encephalopathy1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0200134Epileptic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0007105Infantile encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0007239Congenital encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0006929Hypoglycemic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0007030Nonprogressive encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0007335Recurrent encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0006976Necrotizing encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0006846Acute encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0002480Hepatic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0006789Mitochondrial encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0002448Progressive encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0006929Hypoglycemic encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0007030Nonprogressive encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0007239Congenital encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0006976Necrotizing encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0007335Recurrent encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0002480Hepatic encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0006789Mitochondrial encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0002448Progressive encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0006846Acute encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0007105Infantile encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0200134Epileptic encephalopathy1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0007105Infantile encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0200134Epileptic encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0007030Nonprogressive encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0007239Congenital encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0006929Hypoglycemic encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0006976Necrotizing encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0007335Recurrent encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0006789Mitochondrial encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0002448Progressive encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0006846Acute encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0002480Hepatic encephalopathy1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0200134Epileptic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0007105Infantile encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0006929Hypoglycemic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0007030Nonprogressive encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0007239Congenital encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0006976Necrotizing encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0007335Recurrent encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0002480Hepatic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0006789Mitochondrial encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0002448Progressive encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0006846Acute encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0002480Hepatic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0006789Mitochondrial encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0002448Progressive encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0006846Acute encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0200134Epileptic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0007105Infantile encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0007239Congenital encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0007030Nonprogressive encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0006976Necrotizing encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0007335Recurrent encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0002448Progressive encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0200134Epileptic encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0007105Infantile encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0007239Congenital encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0007335Recurrent encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0006976Necrotizing encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0006846Acute encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0002480Hepatic encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0006846Acute encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0006846Acute encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0006846Acute encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0002448Progressive encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0006846Acute encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0002480Hepatic encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0200134Epileptic encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0007105Infantile encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0007239Congenital encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0007335Recurrent encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0006976Necrotizing encephalopathy1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0007239Congenital encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0006929Hypoglycemic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0007030Nonprogressive encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0006976Necrotizing encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0007335Recurrent encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0006846Acute encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0002480Hepatic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0006789Mitochondrial encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0002448Progressive encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0200134Epileptic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0007105Infantile encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0006976Necrotizing encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0007335Recurrent encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0006846Acute encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0002480Hepatic encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0006789Mitochondrial encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0002448Progressive encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0200134Epileptic encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0007105Infantile encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0007239Congenital encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0006929Hypoglycemic encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0007030Nonprogressive encephalopathy1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0007239Congenital encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0006929Hypoglycemic encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0007030Nonprogressive encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0006976Necrotizing encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0007335Recurrent encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0002480Hepatic encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0006789Mitochondrial encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0002448Progressive encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0006846Acute encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0200134Epileptic encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0007105Infantile encephalopathy1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0006789Mitochondrial encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0002448Progressive encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0006846Acute encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0002480Hepatic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0007105Infantile encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0200134Epileptic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0006929Hypoglycemic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0007030Nonprogressive encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0007239Congenital encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0006976Necrotizing encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0007335Recurrent encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0007239Congenital encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0006929Hypoglycemic encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0007030Nonprogressive encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0006976Necrotizing encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0007335Recurrent encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0006846Acute encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0002480Hepatic encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0006789Mitochondrial encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0002448Progressive encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0200134Epileptic encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0007105Infantile encephalopathy1CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0200134Epileptic encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0007105Infantile encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0006929Hypoglycemic encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0007030Nonprogressive encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0007239Congenital encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0006976Necrotizing encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0007335Recurrent encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0002480Hepatic encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0006789Mitochondrial encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0002448Progressive encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0006846Acute encephalopathy1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0006976Necrotizing encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0007335Recurrent encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0006789Mitochondrial encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0002448Progressive encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0006846Acute encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0002480Hepatic encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0200134Epileptic encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0007105Infantile encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0007030Nonprogressive encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0007239Congenital encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0006929Hypoglycemic encephalopathy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0200134Epileptic encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0007105Infantile encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0007239Congenital encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0006929Hypoglycemic encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0007030Nonprogressive encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0006976Necrotizing encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0007335Recurrent encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0006846Acute encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0002480Hepatic encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0002448Progressive encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0006789Mitochondrial encephalopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0007030Nonprogressive encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0007239Congenital encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0006929Hypoglycemic encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0006976Necrotizing encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0007335Recurrent encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0006789Mitochondrial encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0002448Progressive encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0006846Acute encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0002480Hepatic encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0007105Infantile encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0200134Epileptic encephalopathy1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0006976Necrotizing encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0007335Recurrent encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0006846Acute encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0002480Hepatic encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0006789Mitochondrial encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0002448Progressive encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0200134Epileptic encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0007105Infantile encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0007239Congenital encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0006929Hypoglycemic encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0007030Nonprogressive encephalopathy1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0007105Infantile encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0200134Epileptic encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0006929Hypoglycemic encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0007030Nonprogressive encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0007239Congenital encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0006976Necrotizing encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0007335Recurrent encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0006789Mitochondrial encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0002448Progressive encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0006846Acute encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0002480Hepatic encephalopathy1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0006976Necrotizing encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0007335Recurrent encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0006846Acute encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0002480Hepatic encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0006789Mitochondrial encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0002448Progressive encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0200134Epileptic encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0007105Infantile encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0007239Congenital encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0006929Hypoglycemic encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0007030Nonprogressive encephalopathy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0006789Mitochondrial encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0002448Progressive encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0006846Acute encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0002480Hepatic encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0007105Infantile encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0200134Epileptic encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0007030Nonprogressive encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0007239Congenital encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0006929Hypoglycemic encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0006976Necrotizing encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0007335Recurrent encephalopathy1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0006976Necrotizing encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0007335Recurrent encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0006789Mitochondrial encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0002448Progressive encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0006846Acute encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0002480Hepatic encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0200134Epileptic encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0007105Infantile encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0007030Nonprogressive encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0007239Congenital encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0006929Hypoglycemic encephalopathy1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0007335Recurrent encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0006976Necrotizing encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0002448Progressive encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0006846Acute encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0002480Hepatic encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0006789Mitochondrial encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0200134Epileptic encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0007105Infantile encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0007239Congenital encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0006929Hypoglycemic encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0007030Nonprogressive encephalopathy1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0006789Mitochondrial encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0002448Progressive encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0006846Acute encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0002480Hepatic encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0007105Infantile encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0200134Epileptic encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0006929Hypoglycemic encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0007030Nonprogressive encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0007239Congenital encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0006976Necrotizing encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0007335Recurrent encephalopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0002448Progressive encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0007239Congenital encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0006846Acute encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0006929Hypoglycemic encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0002480Hepatic encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0007030Nonprogressive encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0006789Mitochondrial encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0200134Epileptic encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0006976Necrotizing encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0007105Infantile encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0007335Recurrent encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0007030Nonprogressive encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0006846Acute encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0002480Hepatic encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0007239Congenital encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0006789Mitochondrial encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0006929Hypoglycemic encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0002448Progressive encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0006976Necrotizing encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0007335Recurrent encephalopathy1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0200134Epileptic encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0007105Infantile encephalopathy1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0006846Acute encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0002480Hepatic encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0006789Mitochondrial encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0002448Progressive encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0200134Epileptic encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0007105Infantile encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0007239Congenital encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0006929Hypoglycemic encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0007030Nonprogressive encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0006976Necrotizing encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0007335Recurrent encephalopathy1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0200134Epileptic encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0007105Infantile encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0007239Congenital encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0006929Hypoglycemic encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0007030Nonprogressive encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0006976Necrotizing encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0007335Recurrent encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0006846Acute encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0002480Hepatic encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0006789Mitochondrial encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0002448Progressive encephalopathy1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0006789Mitochondrial encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0002448Progressive encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0006846Acute encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0002480Hepatic encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0007105Infantile encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0200134Epileptic encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0006929Hypoglycemic encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0007030Nonprogressive encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0007239Congenital encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0006976Necrotizing encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0007335Recurrent encephalopathy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0002480Hepatic encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0006789Mitochondrial encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0002448Progressive encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0006846Acute encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0200134Epileptic encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0007105Infantile encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0006929Hypoglycemic encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0007030Nonprogressive encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0007239Congenital encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0006976Necrotizing encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0007335Recurrent encephalopathy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0006846Acute encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0002480Hepatic encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0006789Mitochondrial encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0002448Progressive encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0200134Epileptic encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0007105Infantile encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0007239Congenital encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0006929Hypoglycemic encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0007030Nonprogressive encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0006976Necrotizing encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0007335Recurrent encephalopathy1FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0007239Congenital encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0006929Hypoglycemic encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0007030Nonprogressive encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0007335Recurrent encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0006976Necrotizing encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0002448Progressive encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0006846Acute encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0002480Hepatic encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0006789Mitochondrial encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0200134Epileptic encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0007105Infantile encephalopathy1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0007239Congenital encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0006929Hypoglycemic encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0007030Nonprogressive encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0006976Necrotizing encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0007335Recurrent encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0006846Acute encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0002480Hepatic encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0006789Mitochondrial encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0002448Progressive encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0200134Epileptic encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0007105Infantile encephalopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0002480Hepatic encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0006789Mitochondrial encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0002448Progressive encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0006846Acute encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0200134Epileptic encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0007105Infantile encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0006929Hypoglycemic encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0007030Nonprogressive encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0007239Congenital encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0006976Necrotizing encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0007335Recurrent encephalopathy1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0006976Necrotizing encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0007335Recurrent encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0006789Mitochondrial encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0002448Progressive encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0006846Acute encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0002480Hepatic encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0007105Infantile encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0200134Epileptic encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0006929Hypoglycemic encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0007030Nonprogressive encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0007239Congenital encephalopathy1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0007335Recurrent encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0006976Necrotizing encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0006846Acute encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0002480Hepatic encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0006789Mitochondrial encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0002448Progressive encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0200134Epileptic encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0007105Infantile encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0007239Congenital encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0006929Hypoglycemic encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0007030Nonprogressive encephalopathy1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0200134Epileptic encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0007239Congenital encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0007105Infantile encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0006929Hypoglycemic encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0007030Nonprogressive encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0007335Recurrent encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0007239Congenital encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0006929Hypoglycemic encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0007030Nonprogressive encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0006976Necrotizing encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0002448Progressive encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0006846Acute encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0002480Hepatic encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0006976Necrotizing encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0006789Mitochondrial encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0007335Recurrent encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0006846Acute encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0002480Hepatic encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0200134Epileptic encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0006789Mitochondrial encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0007105Infantile encephalopathy1GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0002448Progressive encephalopathy1GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0007239Congenital encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0006929Hypoglycemic encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0007030Nonprogressive encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0006976Necrotizing encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0007335Recurrent encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0006846Acute encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0002480Hepatic encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0006789Mitochondrial encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0002448Progressive encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0200134Epileptic encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0007105Infantile encephalopathy1GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0006846Acute encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0002480Hepatic encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0006789Mitochondrial encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0002448Progressive encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0200134Epileptic encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0007105Infantile encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0007239Congenital encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0006929Hypoglycemic encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0007030Nonprogressive encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0006976Necrotizing encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0007335Recurrent encephalopathy1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0006976Necrotizing encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0007335Recurrent encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0002480Hepatic encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0006789Mitochondrial encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0002448Progressive encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0006846Acute encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0200134Epileptic encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0007105Infantile encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0007239Congenital encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0006929Hypoglycemic encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0007030Nonprogressive encephalopathy1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0006976Necrotizing encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0007335Recurrent encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0006846Acute encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0002480Hepatic encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0006789Mitochondrial encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0002448Progressive encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0200134Epileptic encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0007105Infantile encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0007239Congenital encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0006929Hypoglycemic encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0007030Nonprogressive encephalopathy1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0007239Congenital encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0006929Hypoglycemic encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0007030Nonprogressive encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0006976Necrotizing encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0007335Recurrent encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0006846Acute encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0002480Hepatic encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0006789Mitochondrial encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0002448Progressive encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0200134Epileptic encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0007105Infantile encephalopathy1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0006976Necrotizing encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0007335Recurrent encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0006789Mitochondrial encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0002448Progressive encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0006846Acute encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0002480Hepatic encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0007105Infantile encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0200134Epileptic encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0006929Hypoglycemic encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0007030Nonprogressive encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0007239Congenital encephalopathy1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0007030Nonprogressive encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0007239Congenital encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0006929Hypoglycemic encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0007335Recurrent encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0006976Necrotizing encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0002448Progressive encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0006846Acute encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0002480Hepatic encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0006789Mitochondrial encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0200134Epileptic encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0007105Infantile encephalopathy1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0200134Epileptic encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0007105Infantile encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0007239Congenital encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0006929Hypoglycemic encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0007030Nonprogressive encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0006976Necrotizing encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0007335Recurrent encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0006846Acute encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0002480Hepatic encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0006789Mitochondrial encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0002448Progressive encephalopathy1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0002448Progressive encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0006846Acute encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0002480Hepatic encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0006789Mitochondrial encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0200134Epileptic encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0007105Infantile encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0007239Congenital encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0006929Hypoglycemic encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0007030Nonprogressive encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0007335Recurrent encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0006976Necrotizing encephalopathy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0007239Congenital encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0006929Hypoglycemic encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0007030Nonprogressive encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0006976Necrotizing encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0007335Recurrent encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0002480Hepatic encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0006789Mitochondrial encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0002448Progressive encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0006846Acute encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0200134Epileptic encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0007105Infantile encephalopathy1ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0006976Necrotizing encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0007335Recurrent encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0006846Acute encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0002480Hepatic encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0006789Mitochondrial encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0002448Progressive encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0200134Epileptic encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0007105Infantile encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0007239Congenital encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0006929Hypoglycemic encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0007030Nonprogressive encephalopathy1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0007239Congenital encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0006929Hypoglycemic encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0007030Nonprogressive encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0006976Necrotizing encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0007335Recurrent encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0002480Hepatic encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0006789Mitochondrial encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0002448Progressive encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0006846Acute encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0200134Epileptic encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0007105Infantile encephalopathy1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0006976Necrotizing encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0007335Recurrent encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0002480Hepatic encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0006789Mitochondrial encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0002448Progressive encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0006846Acute encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0007105Infantile encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0200134Epileptic encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0006929Hypoglycemic encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0007030Nonprogressive encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0007239Congenital encephalopathy1KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0006976Necrotizing encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0007335Recurrent encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0002480Hepatic encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0006789Mitochondrial encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0002448Progressive encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0006846Acute encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0007105Infantile encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0200134Epileptic encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0006929Hypoglycemic encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0007030Nonprogressive encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0007239Congenital encephalopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0006976Necrotizing encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0007335Recurrent encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0006789Mitochondrial encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0002448Progressive encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0006846Acute encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0002480Hepatic encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0200134Epileptic encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0007105Infantile encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0007030Nonprogressive encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0007239Congenital encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0006929Hypoglycemic encephalopathy1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0007335Recurrent encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0006976Necrotizing encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0002448Progressive encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0006846Acute encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0002480Hepatic encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0006789Mitochondrial encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0200134Epileptic encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0007105Infantile encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0007030Nonprogressive encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0007239Congenital encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0006929Hypoglycemic encephalopathy1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0007239Congenital encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0006929Hypoglycemic encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0007030Nonprogressive encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0006976Necrotizing encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0007335Recurrent encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0006846Acute encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0002480Hepatic encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0006789Mitochondrial encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0002448Progressive encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0200134Epileptic encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0007105Infantile encephalopathy1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0200134Epileptic encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0007105Infantile encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0007239Congenital encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0006929Hypoglycemic encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0007030Nonprogressive encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0006976Necrotizing encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0007335Recurrent encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0006846Acute encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0002480Hepatic encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0006789Mitochondrial encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0002448Progressive encephalopathy1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0002480Hepatic encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0002448Progressive encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0006846Acute encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0200134Epileptic encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0007105Infantile encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0007239Congenital encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0006976Necrotizing encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0007335Recurrent encephalopathy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0006976Necrotizing encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0007335Recurrent encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0002480Hepatic encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0002448Progressive encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0006846Acute encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0007105Infantile encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0200134Epileptic encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0007239Congenital encephalopathy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0007239Congenital encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0006976Necrotizing encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0007335Recurrent encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0002448Progressive encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0006846Acute encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0002480Hepatic encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0200134Epileptic encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0007105Infantile encephalopathy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0200134Epileptic encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0007105Infantile encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0007239Congenital encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0007335Recurrent encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0006976Necrotizing encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0002448Progressive encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0006846Acute encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0002480Hepatic encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0006846Acute encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0002480Hepatic encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0002448Progressive encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0200134Epileptic encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0007105Infantile encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0007239Congenital encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0006976Necrotizing encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0007335Recurrent encephalopathy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0006976Necrotizing encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0007335Recurrent encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0006846Acute encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0002480Hepatic encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0002448Progressive encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0200134Epileptic encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0007105Infantile encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0007239Congenital encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0007239Congenital encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0006976Necrotizing encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0007335Recurrent encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0002480Hepatic encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0002448Progressive encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0006846Acute encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0007105Infantile encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0200134Epileptic encephalopathy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0007105Infantile encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0200134Epileptic encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0007239Congenital encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0007335Recurrent encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0002448Progressive encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0006846Acute encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0002480Hepatic encephalopathy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0002448Progressive encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0006846Acute encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0002480Hepatic encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0200134Epileptic encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0007105Infantile encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0007239Congenital encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0007335Recurrent encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0007335Recurrent encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0006846Acute encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0002480Hepatic encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0002448Progressive encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0200134Epileptic encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0007105Infantile encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0007239Congenital encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0007335Recurrent encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0006846Acute encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0002480Hepatic encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0002448Progressive encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0200134Epileptic encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0007105Infantile encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0007239Congenital encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0007239Congenital encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0007335Recurrent encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0006846Acute encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0002480Hepatic encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0002448Progressive encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0200134Epileptic encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0007105Infantile encephalopathy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0200134Epileptic encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0007105Infantile encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0007239Congenital encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0007335Recurrent encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0002480Hepatic encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0002448Progressive encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0006846Acute encephalopathy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0002448Progressive encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0006846Acute encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0002480Hepatic encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0007105Infantile encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0200134Epileptic encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0007239Congenital encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0007335Recurrent encephalopathy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0007335Recurrent encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0002448Progressive encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0006846Acute encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0002480Hepatic encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0200134Epileptic encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0007105Infantile encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0007239Congenital encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0007239Congenital encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0007335Recurrent encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0006846Acute encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0002480Hepatic encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0002448Progressive encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0200134Epileptic encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0007105Infantile encephalopathy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0200134Epileptic encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0007105Infantile encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0007239Congenital encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0006929Hypoglycemic encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0007030Nonprogressive encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0006976Necrotizing encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0007335Recurrent encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0006846Acute encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0002480Hepatic encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0006789Mitochondrial encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0002448Progressive encephalopathy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0200134Epileptic encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0007105Infantile encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0007239Congenital encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0006929Hypoglycemic encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0007030Nonprogressive encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0006976Necrotizing encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0007335Recurrent encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0006846Acute encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0002480Hepatic encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0006789Mitochondrial encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0002448Progressive encephalopathy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0007335Recurrent encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0006976Necrotizing encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0006846Acute encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0002480Hepatic encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0006789Mitochondrial encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0002448Progressive encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0200134Epileptic encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0007105Infantile encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0007239Congenital encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0006929Hypoglycemic encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0007030Nonprogressive encephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0007239Congenital encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0007335Recurrent encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0006846Acute encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0002480Hepatic encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0002448Progressive encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0200134Epileptic encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0007105Infantile encephalopathy1NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0007335Recurrent encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0002448Progressive encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0006846Acute encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0002480Hepatic encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0200134Epileptic encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0007105Infantile encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0007239Congenital encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0007335Recurrent encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0006846Acute encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0002480Hepatic encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0002448Progressive encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0200134Epileptic encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0007105Infantile encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0007239Congenital encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0002448Progressive encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0006846Acute encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0002480Hepatic encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0200134Epileptic encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0007105Infantile encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0007239Congenital encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0007335Recurrent encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0200134Epileptic encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0007105Infantile encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0007239Congenital encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0007335Recurrent encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0002480Hepatic encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0002448Progressive encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0006846Acute encephalopathy1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0002448Progressive encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0006846Acute encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0002480Hepatic encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0007105Infantile encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0200134Epileptic encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0007239Congenital encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0007335Recurrent encephalopathy1NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0007239Congenital encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0007335Recurrent encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0002480Hepatic encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0002448Progressive encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0006846Acute encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0007105Infantile encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0200134Epileptic encephalopathy1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0007105Infantile encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0200134Epileptic encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0007239Congenital encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0007335Recurrent encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0002448Progressive encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0006846Acute encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0002480Hepatic encephalopathy1NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0006846Acute encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0002480Hepatic encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0002448Progressive encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0200134Epileptic encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0007105Infantile encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0007239Congenital encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0007335Recurrent encephalopathy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0006976Necrotizing encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0007335Recurrent encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0006846Acute encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0002480Hepatic encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0006789Mitochondrial encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0002448Progressive encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0200134Epileptic encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0007105Infantile encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0007239Congenital encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0006929Hypoglycemic encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0007030Nonprogressive encephalopathy1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0007105Infantile encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0200134Epileptic encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0006929Hypoglycemic encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0007030Nonprogressive encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0007239Congenital encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0006976Necrotizing encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0007335Recurrent encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0006789Mitochondrial encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0002448Progressive encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0006846Acute encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0002480Hepatic encephalopathy1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0002448Progressive encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0006846Acute encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0002480Hepatic encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0006789Mitochondrial encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0200134Epileptic encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0007105Infantile encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0007030Nonprogressive encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0007239Congenital encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0006929Hypoglycemic encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0006976Necrotizing encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0007335Recurrent encephalopathy1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0007335Recurrent encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0006976Necrotizing encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0006846Acute encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0002480Hepatic encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0006789Mitochondrial encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0002448Progressive encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0200134Epileptic encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0007105Infantile encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0007239Congenital encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0006929Hypoglycemic encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0007030Nonprogressive encephalopathy1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0007239Congenital encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0006929Hypoglycemic encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0007030Nonprogressive encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0006976Necrotizing encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0007335Recurrent encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0002480Hepatic encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0006789Mitochondrial encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0002448Progressive encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0006846Acute encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0200134Epileptic encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0007105Infantile encephalopathy1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0007239Congenital encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0006929Hypoglycemic encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0007030Nonprogressive encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0006976Necrotizing encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0007335Recurrent encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0006846Acute encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0002480Hepatic encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0006789Mitochondrial encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0002448Progressive encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0200134Epileptic encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0007105Infantile encephalopathy1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0006929Hypoglycemic encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0007030Nonprogressive encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0007239Congenital encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0006976Necrotizing encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0007335Recurrent encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0006789Mitochondrial encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0002448Progressive encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0006846Acute encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0002480Hepatic encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0007105Infantile encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0200134Epileptic encephalopathy1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0007105Infantile encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0200134Epileptic encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0006929Hypoglycemic encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0007030Nonprogressive encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0007239Congenital encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0006976Necrotizing encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0007335Recurrent encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0006789Mitochondrial encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0002448Progressive encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0006846Acute encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0002480Hepatic encephalopathy1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0006789Mitochondrial encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0002448Progressive encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0006846Acute encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0002480Hepatic encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0200134Epileptic encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0007105Infantile encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0007030Nonprogressive encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0007239Congenital encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0006929Hypoglycemic encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0006976Necrotizing encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0007335Recurrent encephalopathy1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0200134Epileptic encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0007105Infantile encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0007239Congenital encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0006929Hypoglycemic encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0007030Nonprogressive encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0006976Necrotizing encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0007335Recurrent encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0002480Hepatic encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0006789Mitochondrial encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0002448Progressive encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0006846Acute encephalopathy1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0200134Epileptic encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0007105Infantile encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0007239Congenital encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0006929Hypoglycemic encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0007030Nonprogressive encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0006976Necrotizing encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0007335Recurrent encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0002480Hepatic encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0006789Mitochondrial encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0002448Progressive encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0006846Acute encephalopathy1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0006789Mitochondrial encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0002448Progressive encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0006846Acute encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0002480Hepatic encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0007105Infantile encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0200134Epileptic encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0006929Hypoglycemic encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0007030Nonprogressive encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0007239Congenital encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0006976Necrotizing encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0007335Recurrent encephalopathy1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0200134Epileptic encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0007105Infantile encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0007239Congenital encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0006929Hypoglycemic encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0007030Nonprogressive encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0007335Recurrent encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0006976Necrotizing encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0002448Progressive encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0006846Acute encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0002480Hepatic encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0006789Mitochondrial encephalopathy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0007030Nonprogressive encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0007239Congenital encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0006929Hypoglycemic encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0007335Recurrent encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0006976Necrotizing encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0002448Progressive encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0006846Acute encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0002480Hepatic encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0006789Mitochondrial encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0200134Epileptic encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0007105Infantile encephalopathy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0002480Hepatic encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0006789Mitochondrial encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0002448Progressive encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0200134Epileptic encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0007105Infantile encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0007239Congenital encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0006929Hypoglycemic encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0007030Nonprogressive encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0007335Recurrent encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0006976Necrotizing encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0006846Acute encephalopathy1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0006976Necrotizing encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0007335Recurrent encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0002448Progressive encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0006846Acute encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0002480Hepatic encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0200134Epileptic encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0007105Infantile encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0007239Congenital encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0006846Acute encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0002480Hepatic encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0002448Progressive encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0200134Epileptic encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0007105Infantile encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0007239Congenital encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0007335Recurrent encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0006976Necrotizing encephalopathy1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0007239Congenital encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0007335Recurrent encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0006976Necrotizing encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0002448Progressive encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0006846Acute encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0002480Hepatic encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0200134Epileptic encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0007105Infantile encephalopathy1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0002448Progressive encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0006846Acute encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0002480Hepatic encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0200134Epileptic encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0007105Infantile encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0007239Congenital encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0006976Necrotizing encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0007335Recurrent encephalopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0007239Congenital encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0006976Necrotizing encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0007335Recurrent encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0002480Hepatic encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0002448Progressive encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0006846Acute encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0200134Epileptic encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0007105Infantile encephalopathy1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0200134Epileptic encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0007105Infantile encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0007239Congenital encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0006976Necrotizing encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0007335Recurrent encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0006846Acute encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0002480Hepatic encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0002448Progressive encephalopathy1SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0006976Necrotizing encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0007335Recurrent encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0002448Progressive encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0006846Acute encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0002480Hepatic encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0200134Epileptic encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0007105Infantile encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0007239Congenital encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0006976Necrotizing encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0007335Recurrent encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0002448Progressive encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0006846Acute encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0002480Hepatic encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0007105Infantile encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0200134Epileptic encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0007239Congenital encephalopathy1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0006789Mitochondrial encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0002448Progressive encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0006846Acute encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0002480Hepatic encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0007105Infantile encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0200134Epileptic encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0006929Hypoglycemic encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0007030Nonprogressive encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0007239Congenital encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0006976Necrotizing encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0007335Recurrent encephalopathy1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0200134Epileptic encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0007105Infantile encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0007239Congenital encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0006929Hypoglycemic encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0007030Nonprogressive encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0006976Necrotizing encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0007335Recurrent encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0006846Acute encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0002480Hepatic encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0006789Mitochondrial encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0002448Progressive encephalopathy1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0200134Epileptic encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0007105Infantile encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0007239Congenital encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0006929Hypoglycemic encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0007030Nonprogressive encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0006976Necrotizing encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0007335Recurrent encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0002480Hepatic encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0006789Mitochondrial encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0002448Progressive encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0006846Acute encephalopathy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0002480Hepatic encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0006789Mitochondrial encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0002448Progressive encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0006846Acute encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0200134Epileptic encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0007105Infantile encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0007239Congenital encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0006929Hypoglycemic encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0007030Nonprogressive encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0006976Necrotizing encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0007335Recurrent encephalopathy1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0006976Necrotizing encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0007335Recurrent encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0006789Mitochondrial encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0002448Progressive encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0006846Acute encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0002480Hepatic encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0007105Infantile encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0200134Epileptic encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0006929Hypoglycemic encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0007030Nonprogressive encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0007239Congenital encephalopathy1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0007030Nonprogressive encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0007239Congenital encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0006929Hypoglycemic encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0006976Necrotizing encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0007335Recurrent encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0006789Mitochondrial encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0002448Progressive encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0006846Acute encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0002480Hepatic encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0200134Epileptic encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0007105Infantile encephalopathy1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0007239Congenital encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0006929Hypoglycemic encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0007030Nonprogressive encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0006976Necrotizing encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0007335Recurrent encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0006846Acute encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0002480Hepatic encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0006789Mitochondrial encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0002448Progressive encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0200134Epileptic encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0007105Infantile encephalopathy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0200134Epileptic encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0007105Infantile encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0007239Congenital encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0006929Hypoglycemic encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0007030Nonprogressive encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0006976Necrotizing encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0007335Recurrent encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0002480Hepatic encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0006789Mitochondrial encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0002448Progressive encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0006846Acute encephalopathy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0007105Infantile encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0200134Epileptic encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0006929Hypoglycemic encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0007030Nonprogressive encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0007239Congenital encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0006976Necrotizing encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0007335Recurrent encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0006789Mitochondrial encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0002448Progressive encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0006846Acute encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0002480Hepatic encephalopathy1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0200134Epileptic encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0007105Infantile encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0007239Congenital encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0006929Hypoglycemic encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0007030Nonprogressive encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0006976Necrotizing encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0007335Recurrent encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0002480Hepatic encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0006789Mitochondrial encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0002448Progressive encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0006846Acute encephalopathy1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0200134Epileptic encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0007105Infantile encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0007239Congenital encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0006929Hypoglycemic encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0007030Nonprogressive encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0007335Recurrent encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0006976Necrotizing encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0002448Progressive encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0006846Acute encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0002480Hepatic encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0006789Mitochondrial encephalopathy1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0200134Epileptic encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0007105Infantile encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0007239Congenital encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0006929Hypoglycemic encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0007030Nonprogressive encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0006976Necrotizing encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0007335Recurrent encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0006846Acute encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0002480Hepatic encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0006789Mitochondrial encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0002448Progressive encephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0200134Epileptic encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0007105Infantile encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0007239Congenital encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0006929Hypoglycemic encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0007030Nonprogressive encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0007335Recurrent encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0006976Necrotizing encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0002448Progressive encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0006846Acute encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0002480Hepatic encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0006789Mitochondrial encephalopathy1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0007030Nonprogressive encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0007239Congenital encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0006929Hypoglycemic encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0006976Necrotizing encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0007335Recurrent encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0006789Mitochondrial encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0002448Progressive encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0006846Acute encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0002480Hepatic encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0200134Epileptic encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0007105Infantile encephalopathy1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0007239Congenital encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0006929Hypoglycemic encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0007030Nonprogressive encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0007335Recurrent encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0006976Necrotizing encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0002448Progressive encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0006846Acute encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0002480Hepatic encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0006789Mitochondrial encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0200134Epileptic encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0007105Infantile encephalopathy1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0200134Epileptic encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0007105Infantile encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0007239Congenital encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0006929Hypoglycemic encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0007030Nonprogressive encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0006976Necrotizing encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0007335Recurrent encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0006846Acute encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0002480Hepatic encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0006789Mitochondrial encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0002448Progressive encephalopathy1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0007335Recurrent encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0006976Necrotizing encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0002448Progressive encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0006846Acute encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0002480Hepatic encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0006789Mitochondrial encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0200134Epileptic encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0007105Infantile encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0007239Congenital encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0006929Hypoglycemic encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0007030Nonprogressive encephalopathy1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0007239Congenital encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0006929Hypoglycemic encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0007030Nonprogressive encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0006976Necrotizing encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0007335Recurrent encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0006846Acute encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0002480Hepatic encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0006789Mitochondrial encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0002448Progressive encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0200134Epileptic encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0007105Infantile encephalopathy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0007239Congenital encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0006929Hypoglycemic encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0007030Nonprogressive encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0007335Recurrent encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0006976Necrotizing encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0002448Progressive encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0006846Acute encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0002480Hepatic encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0006789Mitochondrial encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0200134Epileptic encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0007105Infantile encephalopathy1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0006846Acute encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0002480Hepatic encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0006789Mitochondrial encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0002448Progressive encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0200134Epileptic encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0007105Infantile encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0007239Congenital encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0006929Hypoglycemic encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0007030Nonprogressive encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0006976Necrotizing encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0007335Recurrent encephalopathy1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0002448Progressive encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0006846Acute encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0002480Hepatic encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0006789Mitochondrial encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0200134Epileptic encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0007105Infantile encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0007030Nonprogressive encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0007239Congenital encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0006929Hypoglycemic encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0006976Necrotizing encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0007335Recurrent encephalopathy1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0007335Recurrent encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0006976Necrotizing encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0002448Progressive encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0006846Acute encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0002480Hepatic encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0006789Mitochondrial encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0200134Epileptic encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0007105Infantile encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0007239Congenital encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0006929Hypoglycemic encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0007030Nonprogressive encephalopathy1UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0006976Necrotizing encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0007335Recurrent encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0006846Acute encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0002480Hepatic encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0006789Mitochondrial encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0002448Progressive encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0200134Epileptic encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0007105Infantile encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0007239Congenital encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0006929Hypoglycemic encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0007030Nonprogressive encephalopathy1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0006929Hypoglycemic encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0007030Nonprogressive encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0007239Congenital encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0006976Necrotizing encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0007335Recurrent encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0002480Hepatic encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0006789Mitochondrial encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0002448Progressive encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0006846Acute encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0007105Infantile encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0200134Epileptic encephalopathy1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0006965Acute necrotizing encephalopathy2AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007111Chronic hepatic encephalopathy2AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007069Profound static encephalopathy2AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0006965Acute necrotizing encephalopathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007111Chronic hepatic encephalopathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007069Profound static encephalopathy2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006965Acute necrotizing encephalopathy2ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0007111Chronic hepatic encephalopathy2ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0007069Profound static encephalopathy2ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001298HP:0007069Profound static encephalopathy2ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0007111Chronic hepatic encephalopathy2ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0006965Acute necrotizing encephalopathy2ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001298HP:0007069Profound static encephalopathy2ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0006965Acute necrotizing encephalopathy2ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0007111Chronic hepatic encephalopathy2ACY1 CL E G H95137754ORPHA1153177104620
HP:0001298HP:0007069Profound static encephalopathy2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0006965Acute necrotizing encephalopathy2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0007111Chronic hepatic encephalopathy2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001298HP:0007111Chronic hepatic encephalopathy2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0006965Acute necrotizing encephalopathy2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0007069Profound static encephalopathy2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0001298HP:0007069Profound static encephalopathy2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0006965Acute necrotizing encephalopathy2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0007111Chronic hepatic encephalopathy2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0001298HP:0007069Profound static encephalopathy2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0007111Chronic hepatic encephalopathy2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0006965Acute necrotizing encephalopathy2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001298HP:0007069Profound static encephalopathy2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0006965Acute necrotizing encephalopathy2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0007111Chronic hepatic encephalopathy2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001298HP:0007069Profound static encephalopathy2ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0006965Acute necrotizing encephalopathy2ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0007111Chronic hepatic encephalopathy2ATP1A3 CL E G H4781171ORPHA1993801182350
HP:0001298HP:0007069Profound static encephalopathy2ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0007111Chronic hepatic encephalopathy2ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0006965Acute necrotizing encephalopathy2ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1209823164360
HP:0001298HP:0007069Profound static encephalopathy2ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0006965Acute necrotizing encephalopathy2ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0007111Chronic hepatic encephalopathy2ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1209823164360
HP:0001298HP:0007111Chronic hepatic encephalopathy2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0006965Acute necrotizing encephalopathy2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0007069Profound static encephalopathy2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0001298HP:0007069Profound static encephalopathy2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0006965Acute necrotizing encephalopathy2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0007111Chronic hepatic encephalopathy2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0001298HP:0006965Acute necrotizing encephalopathy2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0007111Chronic hepatic encephalopathy2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0007069Profound static encephalopathy2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001298HP:0006965Acute necrotizing encephalopathy2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0007111Chronic hepatic encephalopathy2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0007069Profound static encephalopathy2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0001298HP:0007111Chronic hepatic encephalopathy2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0006965Acute necrotizing encephalopathy2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0007069Profound static encephalopathy2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001298HP:0007069Profound static encephalopathy2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0006965Acute necrotizing encephalopathy2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0007111Chronic hepatic encephalopathy2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001298HP:0006965Acute necrotizing encephalopathy2CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0007111Chronic hepatic encephalopathy2CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0007069Profound static encephalopathy2CLTC CL E G H1213442835ORPHA16452092118955
HP:0001298HP:0007069Profound static encephalopathy2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0007111Chronic hepatic encephalopathy2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0006965Acute necrotizing encephalopathy2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0001298HP:0006965Acute necrotizing encephalopathy2COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0007111Chronic hepatic encephalopathy2COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0007069Profound static encephalopathy2COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001298HP:0007069Profound static encephalopathy2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0006965Acute necrotizing encephalopathy2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0007111Chronic hepatic encephalopathy2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001298HP:0006965Acute necrotizing encephalopathy2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0007111Chronic hepatic encephalopathy2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0007069Profound static encephalopathy2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001298HP:0006965Acute necrotizing encephalopathy2COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0007111Chronic hepatic encephalopathy2COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0007069Profound static encephalopathy2COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001298HP:0007069Profound static encephalopathy2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0007111Chronic hepatic encephalopathy2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0006965Acute necrotizing encephalopathy2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001298HP:0006965Acute necrotizing encephalopathy2CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0007111Chronic hepatic encephalopathy2CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0007069Profound static encephalopathy2CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0001298HP:0007069Profound static encephalopathy2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0006965Acute necrotizing encephalopathy2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0007111Chronic hepatic encephalopathy2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0001298HP:0006965Acute necrotizing encephalopathy2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0007111Chronic hepatic encephalopathy2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0007069Profound static encephalopathy2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001298HP:0006965Acute necrotizing encephalopathy2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0007111Chronic hepatic encephalopathy2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0007069Profound static encephalopathy2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0001298HP:0007069Profound static encephalopathy2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0007111Chronic hepatic encephalopathy2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0006965Acute necrotizing encephalopathy2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001298HP:0007069Profound static encephalopathy2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0006965Acute necrotizing encephalopathy2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0007111Chronic hepatic encephalopathy2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0006965Acute necrotizing encephalopathy2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0007111Chronic hepatic encephalopathy2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001298HP:0007069Profound static encephalopathy2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0001298HP:0007069Profound static encephalopathy2DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0006965Acute necrotizing encephalopathy2DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0007111Chronic hepatic encephalopathy2DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0001298HP:0007069Profound static encephalopathy2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0006965Acute necrotizing encephalopathy2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0007111Chronic hepatic encephalopathy2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0001298HP:0007069Profound static encephalopathy2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0007111Chronic hepatic encephalopathy2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0006965Acute necrotizing encephalopathy2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0001298HP:0007069Profound static encephalopathy2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0007111Chronic hepatic encephalopathy2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0006965Acute necrotizing encephalopathy2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001298HP:0007069Profound static encephalopathy2FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0006965Acute necrotizing encephalopathy2FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0007111Chronic hepatic encephalopathy2FADD CL E G H8772306550ORPHA11103573602457
HP:0001298HP:0006965Acute necrotizing encephalopathy2FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0007111Chronic hepatic encephalopathy2FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0007069Profound static encephalopathy2FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001298HP:0006965Acute necrotizing encephalopathy2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0007111Chronic hepatic encephalopathy2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0007069Profound static encephalopathy2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0001298HP:0007069Profound static encephalopathy2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0007111Chronic hepatic encephalopathy2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0006965Acute necrotizing encephalopathy2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0001298HP:0006965Acute necrotizing encephalopathy2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0007111Chronic hepatic encephalopathy2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0007069Profound static encephalopathy2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0001298HP:0006965Acute necrotizing encephalopathy2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0007111Chronic hepatic encephalopathy2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0007069Profound static encephalopathy2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001298HP:0007069Profound static encephalopathy2GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0006965Acute necrotizing encephalopathy2GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0007111Chronic hepatic encephalopathy2GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0006965Acute necrotizing encephalopathy2GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0007111Chronic hepatic encephalopathy2GBA CL E G H262977261ORPHA14177606463
HP:0001298HP:0007069Profound static encephalopathy2GBA CL E G H262977260ORPHA14177606463
HP:0001298HP:0006965Acute necrotizing encephalopathy2GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0007111Chronic hepatic encephalopathy2GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0007069Profound static encephalopathy2GCDH CL E G H263925ORPHA17204189608801
HP:0001298HP:0007069Profound static encephalopathy2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0006965Acute necrotizing encephalopathy2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0007111Chronic hepatic encephalopathy2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001298HP:0007111Chronic hepatic encephalopathy2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0006965Acute necrotizing encephalopathy2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0007069Profound static encephalopathy2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001298HP:0006965Acute necrotizing encephalopathy2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0007111Chronic hepatic encephalopathy2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0007069Profound static encephalopathy2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001298HP:0006965Acute necrotizing encephalopathy2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0007111Chronic hepatic encephalopathy2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0007069Profound static encephalopathy2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001298HP:0006965Acute necrotizing encephalopathy2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0007111Chronic hepatic encephalopathy2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0007069Profound static encephalopathy2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001298HP:0006965Acute necrotizing encephalopathy2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0007111Chronic hepatic encephalopathy2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0007069Profound static encephalopathy2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0001298HP:0007069Profound static encephalopathy2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0006965Acute necrotizing encephalopathy2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0007111Chronic hepatic encephalopathy2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0001298HP:0007069Profound static encephalopathy2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0006965Acute necrotizing encephalopathy2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0007111Chronic hepatic encephalopathy2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0001298HP:0007111Chronic hepatic encephalopathy2ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0006965Acute necrotizing encephalopathy2ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0007069Profound static encephalopathy2ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0001298HP:0007111Chronic hepatic encephalopathy2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0007069Profound static encephalopathy2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0006965Acute necrotizing encephalopathy2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0001298HP:0007111Chronic hepatic encephalopathy2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0006965Acute necrotizing encephalopathy2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0007069Profound static encephalopathy2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0001298HP:0007111Chronic hepatic encephalopathy2KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0006965Acute necrotizing encephalopathy2KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0007069Profound static encephalopathy2KYNU CL E G H894279155ORPHA1816469605197
HP:0001298HP:0007111Chronic hepatic encephalopathy2LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0006965Acute necrotizing encephalopathy2LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0007069Profound static encephalopathy2LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001298HP:0006965Acute necrotizing encephalopathy2LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0007111Chronic hepatic encephalopathy2LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0007069Profound static encephalopathy2LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001298HP:0006965Acute necrotizing encephalopathy2LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0007111Chronic hepatic encephalopathy2LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0007069Profound static encephalopathy2LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001298HP:0006965Acute necrotizing encephalopathy2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0007111Chronic hepatic encephalopathy2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0007069Profound static encephalopathy2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001298HP:0007069Profound static encephalopathy2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0006965Acute necrotizing encephalopathy2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0007111Chronic hepatic encephalopathy2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001298HP:0007069Profound static encephalopathy2MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0007069Profound static encephalopathy2MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0007069Profound static encephalopathy2MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0007069Profound static encephalopathy2MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0007069Profound static encephalopathy2MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0007069Profound static encephalopathy2MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0007069Profound static encephalopathy2MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0007069Profound static encephalopathy2MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0007069Profound static encephalopathy2MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0007069Profound static encephalopathy2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0007069Profound static encephalopathy2MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0007069Profound static encephalopathy2MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0007069Profound static encephalopathy2MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0007069Profound static encephalopathy2MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0007069Profound static encephalopathy2MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0007069Profound static encephalopathy2MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0007069Profound static encephalopathy2MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0006965Acute necrotizing encephalopathy2MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0007111Chronic hepatic encephalopathy2MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0007069Profound static encephalopathy2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0006965Acute necrotizing encephalopathy2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0007111Chronic hepatic encephalopathy2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001298HP:0006965Acute necrotizing encephalopathy2NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0007111Chronic hepatic encephalopathy2NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0007069Profound static encephalopathy2NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0007069Profound static encephalopathy2NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM113120371612638
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0007069Profound static encephalopathy2NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0007069Profound static encephalopathy2NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001298HP:0007069Profound static encephalopathy2NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0001298HP:0007069Profound static encephalopathy2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001298HP:0007069Profound static encephalopathy2NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1797698603839
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0007069Profound static encephalopathy2NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001298HP:0007069Profound static encephalopathy2NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM13027713603848
HP:0001298HP:0007069Profound static encephalopathy2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001298HP:0006965Acute necrotizing encephalopathy2NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0007111Chronic hepatic encephalopathy2NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0007069Profound static encephalopathy2NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001298HP:0007069Profound static encephalopathy2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0006965Acute necrotizing encephalopathy2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0007111Chronic hepatic encephalopathy2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0001298HP:0007069Profound static encephalopathy2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0006965Acute necrotizing encephalopathy2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0007111Chronic hepatic encephalopathy2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0001298HP:0006965Acute necrotizing encephalopathy2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0007111Chronic hepatic encephalopathy2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0007069Profound static encephalopathy2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0001298HP:0006965Acute necrotizing encephalopathy2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0007111Chronic hepatic encephalopathy2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0007069Profound static encephalopathy2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001298HP:0006965Acute necrotizing encephalopathy2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0007111Chronic hepatic encephalopathy2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0007069Profound static encephalopathy2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0001298HP:0006965Acute necrotizing encephalopathy2PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0007111Chronic hepatic encephalopathy2PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0007069Profound static encephalopathy2PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11919449176640
HP:0001298HP:0007069Profound static encephalopathy2RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0007111Chronic hepatic encephalopathy2RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0006965Acute necrotizing encephalopathy2RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM142625671610326
HP:0001298HP:0007069Profound static encephalopathy2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0006965Acute necrotizing encephalopathy2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0007111Chronic hepatic encephalopathy2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001298HP:0007069Profound static encephalopathy2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0006965Acute necrotizing encephalopathy2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0007111Chronic hepatic encephalopathy2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001298HP:0007069Profound static encephalopathy2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0006965Acute necrotizing encephalopathy2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0007111Chronic hepatic encephalopathy2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0001298HP:0007069Profound static encephalopathy2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0007111Chronic hepatic encephalopathy2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0006965Acute necrotizing encephalopathy2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0001298HP:0007069Profound static encephalopathy2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0006965Acute necrotizing encephalopathy2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0007111Chronic hepatic encephalopathy2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001298HP:0006965Acute necrotizing encephalopathy2SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0007111Chronic hepatic encephalopathy2SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0007069Profound static encephalopathy2SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001298HP:0007069Profound static encephalopathy2SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0006965Acute necrotizing encephalopathy2SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0007111Chronic hepatic encephalopathy2SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM190911142605705
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0007069Profound static encephalopathy2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0001298HP:0007069Profound static encephalopathy2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0007069Profound static encephalopathy2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0001298HP:0007069Profound static encephalopathy2SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0007069Profound static encephalopathy2SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0001298HP:0007069Profound static encephalopathy2SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC25A20 CL E G H788159ORPHA11971421613698
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0007069Profound static encephalopathy2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0007069Profound static encephalopathy2SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001298HP:0007069Profound static encephalopathy2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0007111Chronic hepatic encephalopathy2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0006965Acute necrotizing encephalopathy2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001298HP:0007069Profound static encephalopathy2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0006965Acute necrotizing encephalopathy2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0007111Chronic hepatic encephalopathy2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0001298HP:0007069Profound static encephalopathy2SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0006965Acute necrotizing encephalopathy2SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0007111Chronic hepatic encephalopathy2SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001298HP:0007069Profound static encephalopathy2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0006965Acute necrotizing encephalopathy2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0007111Chronic hepatic encephalopathy2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0001298HP:0007111Chronic hepatic encephalopathy2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0006965Acute necrotizing encephalopathy2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0007069Profound static encephalopathy2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0001298HP:0006965Acute necrotizing encephalopathy2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0007111Chronic hepatic encephalopathy2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0007069Profound static encephalopathy2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0001298HP:0006965Acute necrotizing encephalopathy2TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0007111Chronic hepatic encephalopathy2TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0007069Profound static encephalopathy2TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0001298HP:0007069Profound static encephalopathy2TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0006965Acute necrotizing encephalopathy2TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0007111Chronic hepatic encephalopathy2TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001298HP:0007069Profound static encephalopathy2TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0007111Chronic hepatic encephalopathy2TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0006965Acute necrotizing encephalopathy2TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
HP:0001298HP:0007069Profound static encephalopathy2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0006965Acute necrotizing encephalopathy2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0007111Chronic hepatic encephalopathy2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001298HP:0007069Profound static encephalopathy2TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0006965Acute necrotizing encephalopathy2TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0007111Chronic hepatic encephalopathy2TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM128611766190180
HP:0001298HP:0007069Profound static encephalopathy2TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0006965Acute necrotizing encephalopathy2TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0007111Chronic hepatic encephalopathy2TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001298HP:0007069Profound static encephalopathy2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0006965Acute necrotizing encephalopathy2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0007111Chronic hepatic encephalopathy2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0001298HP:0006965Acute necrotizing encephalopathy2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0007111Chronic hepatic encephalopathy2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0007069Profound static encephalopathy2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001298HP:0006965Acute necrotizing encephalopathy2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0007111Chronic hepatic encephalopathy2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0007069Profound static encephalopathy2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001298HP:0007069Profound static encephalopathy2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0006965Acute necrotizing encephalopathy2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0007111Chronic hepatic encephalopathy2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001298HP:0006965Acute necrotizing encephalopathy2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0007111Chronic hepatic encephalopathy2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0007069Profound static encephalopathy2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001298HP:0006965Acute necrotizing encephalopathy2TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0007111Chronic hepatic encephalopathy2TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0007069Profound static encephalopathy2TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0001298HP:0006965Acute necrotizing encephalopathy2TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0007111Chronic hepatic encephalopathy2TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0007069Profound static encephalopathy2TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001298HP:0007069Profound static encephalopathy2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0006965Acute necrotizing encephalopathy2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0007111Chronic hepatic encephalopathy2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0001298HP:0007069Profound static encephalopathy2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0006965Acute necrotizing encephalopathy2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0007111Chronic hepatic encephalopathy2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001298HP:0006965Acute necrotizing encephalopathy2UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0007111Chronic hepatic encephalopathy2UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0007069Profound static encephalopathy2UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM131512530191740
HP:0001298HP:0006965Acute necrotizing encephalopathy2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0007111Chronic hepatic encephalopathy2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0007069Profound static encephalopathy2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0001298HP:0007111Chronic hepatic encephalopathy2YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0006965Acute necrotizing encephalopathy2YWHAG CL E G H7532442835ORPHA118912852605356
HP:0001298HP:0007069Profound static encephalopathy2YWHAG CL E G H7532442835ORPHA118912852605356
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001298HP:0001298Encephalopathy0AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0001298Encephalopathy0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0001298Encephalopathy0MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0001298Encephalopathy0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0001298Encephalopathy0STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0001298Encephalopathy0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0002480Hepatic encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0006789Mitochondrial encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0002448Progressive encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0006846Acute encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0200134Epileptic encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0007105Infantile encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0007239Congenital encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0006929Hypoglycemic encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0007030Nonprogressive encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0006976Necrotizing encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0007335Recurrent encephalopathy1AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0002480Hepatic encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0006789Mitochondrial encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0002448Progressive encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0006846Acute encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0200134Epileptic encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0007105Infantile encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0006929Hypoglycemic encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0007030Nonprogressive encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0007239Congenital encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0006976Necrotizing encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0007335Recurrent encephalopathy1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0006846Acute encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0002480Hepatic encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0006789Mitochondrial encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0002448Progressive encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0200134Epileptic encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0007105Infantile encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0007239Congenital encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0006929Hypoglycemic encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0007030Nonprogressive encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0006976Necrotizing encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0007335Recurrent encephalopathy1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0006976Necrotizing encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0007335Recurrent encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0006789Mitochondrial encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0002448Progressive encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0006846Acute encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0002480Hepatic encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0007105Infantile encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0200134Epileptic encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0006929Hypoglycemic encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0007030Nonprogressive encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0007239Congenital encephalopathy1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0006976Necrotizing encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0007335Recurrent encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0006846Acute encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0002480Hepatic encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0006789Mitochondrial encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0002448Progressive encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0200134Epileptic encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0007105Infantile encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0007239Congenital encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0006929Hypoglycemic encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0007030Nonprogressive encephalopathy1STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0007030Nonprogressive encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0007239Congenital encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0006929Hypoglycemic encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0007335Recurrent encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0006976Necrotizing encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0002448Progressive encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0006846Acute encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0002480Hepatic encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0006789Mitochondrial encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0200134Epileptic encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0007105Infantile encephalopathy1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0007069Profound static encephalopathy2AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0006965Acute necrotizing encephalopathy2AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0007111Chronic hepatic encephalopathy2AMACR CL E G H2360079095ORPHA0392451604489
HP:0001298HP:0007069Profound static encephalopathy2GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0007111Chronic hepatic encephalopathy2GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0006965Acute necrotizing encephalopathy2GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01394492602646
HP:0001298HP:0007069Profound static encephalopathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0006965Acute necrotizing encephalopathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0007111Chronic hepatic encephalopathy2MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM09821606614738
HP:0001298HP:0006965Acute necrotizing encephalopathy2MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0007111Chronic hepatic encephalopathy2MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0007069Profound static encephalopathy2MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0577380142408
HP:0001298HP:0006965Acute necrotizing encephalopathy2STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0007111Chronic hepatic encephalopathy2STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0007069Profound static encephalopathy2STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM040611363600556
HP:0001298HP:0006965Acute necrotizing encephalopathy2TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0007111Chronic hepatic encephalopathy2TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272
HP:0001298HP:0007069Profound static encephalopathy2TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA0106911634602272


Genes (224) :AARS ACAD9 ACY1 ADAM22 ALG9 AMACR AMT AP3B2 ARHGEF9 ARV1 ARX ASNS ATAD1 ATP1A3 ATP5F1A ATP5F1D ATP6V1A BCS1L BOLA3 BSCL2 CACNA1A CACNA1E CAD CARS2 CCDC88A CDKL5 CDKN2A CHD2 CHEK2 CLCN4 CLP1 CLTC CNKSR2 CNPY3 COG8 COQ2 COQ4 COQ9 COX1 COX15 COX2 COX3 CPLX1 CPT1A CUX2 CYC1 CYFIP2 CYTB D2HGDH DENND5A DGUOK DHDDS DLD DNM1 DNM1L DOCK7 EEF1A2 ETHE1 FADD FBXL4 FGF12 FRRS1L GABBR2 GABRA1 GABRB1 GABRB2 GABRB3 GBA GCDH GCSH GLDC GLUL GLYCTK GNAO1 GPR35 GPT2 GRIN1 GRIN2B GRIN2D GUF1 HADH HCN1 HNRNPU HTRA1 IBA57 ITPA KCNA2 KCNB1 KCNQ2 KCNQ5 KCNT1 KCNT2 KYNU LIAS LIPT2 LYRM7 MAPK10 MDH2 MDM2 MECP2 MEF2C MPC1 MST1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW NADK2 NAXE NBAS ND1 ND5 ND6 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF4 NDUFB3 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFV2 NECAP1 NRXN1 NTRK2 NUS1 PACS2 PCCA PCCB PCK1 PHACTR1 PIGA PIGP PLCB1 PMPCB PNKP PNPO PPP3CA PRNP RANBP2 RNASEH2B RNASEH2C ROGDI SCN1A SCN1B SCN2A SCN3A SCN8A SERAC1 SERPINI1 SH2D1A SIK1 SLC13A5 SLC19A3 SLC1A2 SLC22A5 SLC25A1 SLC25A12 SLC25A15 SLC25A20 SLC25A22 SLC2A1 SLC35A1 SLC35A2 SLC6A1 SLC6A9 SPTAN1 ST3GAL3 STAT2 STXBP1 SUCLA2 SUCLG1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TBCD TBCE TBCK TCF4 TGFB1 TH TK2 TMEM70 TP53 TRAK1 TRAPPC12 TREX1 TRIT1 TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSEN54 TSFM TUFM TWNK UBA5 UGT1A1 UNC80 WDR45 WWOX XIAP YWHAG ZNHIT3

Diseases (202) :442835 616339 99901 611126 137754 79095 605899 615574 618011 1171 616045 615228 618120 615924 2382 615803 611182 607426 614654 540000 615119 615453 251880 246900 614388 51188 602473 306550 613759 615471 77260 77261 25 610015 220120 171 616281 615330 616647 79155 614462 617668 615838 300673 614741 616034 617186 618236 618253 618234 618233 618237 618246 618230 618232 618224 618229 610090 606688 610181 610329 614739 604218 616341 607483 212140 615182 159 71277 603585 617301 616636 245400 617193 617207 616900 610954 618213 614052 618201 617669 617873 1349 610505 610678 271245 617132 218800 609924 617933 608776 617276 300607 617020 308350 618012 124000 614299 363400 617106 618285 616457 616672 617507 300672 524 1942 615369 300114 617929 616276 617976 255120 618141 618008 600721 617281 617836 2394 616346 615859 616409 617166 616981 617904 615744 617153 617829 617113 231670 615473 617820 616139 617162 617065 71212 231530 615871 617391 600142 616366 616056 439218 613720 617601 614959 617771 236800 617339 613443 431361 616483 615833 614325 617830 617831 618067 606054 261680 618298 300868 617599 613722 617954 613402 79096 617711 88619 226750 607208 617350 613721 617938 614558 308240 1935 615905 617105 158 612949 238970 609304 300896 613477 615006 612164 612073 612621 617389 615476 352596 615338 496756 101150 254875 225750 225753 329284 616211 260565 252010 616801
 

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