Human Phenotype Ontology 
Grandparent Node:
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Abnormal myelination (HP:0012447)help
Grandparent Node:
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Morphological abnormality of the central nervous system (HP:0002011)help
Parent Node:
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Abnormal CNS myelination (HP:0011400)help
..Starting node
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Leukodystrophy (HP:0002415)help
Term ID: 2415
Name: Leukodystrophy
Synonym: Degeneration of white matter of brain
Definition: Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes.
Comments:
Reference: HP:0002415
Genes and Diseases:
 
       Child Nodes:
........expandSudanophilic leukodystrophy (HP:0003269) help
........expandMetachromatic leukodystrophy variant (HP:0006926) help
........expandDysmyelinating leukodystrophy (HP:0006978) help

 Sister Nodes: 
..expandCerebral dysmyelination (HP:0007266) help
..expandCNS demyelination (HP:0007305) help
..expandCNS hypermyelination (HP:0012754) help
..expandCNS hypomyelination (HP:0003429) help
..expandDelayed CNS myelination (HP:0002188) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002415HP:0002415Leukodystrophy0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM11241423137150
HP:0002415HP:0002415Leukodystrophy0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM112616066617036
HP:0002415HP:0002415Leukodystrophy0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126384119609751
HP:0002415HP:0002415Leukodystrophy0ADAR CL E G H10351ORPHA1229468225146920
HP:0002415HP:0002415Leukodystrophy0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM155010648603605
HP:0002415HP:0002415Leukodystrophy0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM137720609600859
HP:0002415HP:0002415Leukodystrophy0ARSA CL E G H410309256ORPHA1254723713607574
HP:0002415HP:0002415Leukodystrophy0ARSA CL E G H410309263ORPHA1254723713607574
HP:0002415HP:0002415Leukodystrophy0ARSA CL E G H410309271ORPHA1254723713607574
HP:0002415HP:0002415Leukodystrophy0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM166324415613183
HP:0002415HP:0002415Leukodystrophy0COX15 CL E G H1355255241ORPHA152152263603646
HP:0002415HP:0002415Leukodystrophy0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13472226169613129
HP:0002415HP:0002415Leukodystrophy0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113732666128239
HP:0002415HP:0002415Leukodystrophy0ECHS1 CL E G H1892255241ORPHA1332363151602292
HP:0002415HP:0002415Leukodystrophy0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1702183180131244
HP:0002415HP:0002415Leukodystrophy0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0002415HP:0002415Leukodystrophy0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM11222424587610531
HP:0002415HP:0002415Leukodystrophy0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14845413601605654
HP:0002415HP:0002415Leukodystrophy0FOXRED1 CL E G H55572255241ORPHA1820926927613622
HP:0002415HP:0002415Leukodystrophy0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15716717494608803
HP:0002415HP:0002415Leukodystrophy0GLRX5 CL E G H51218401866ORPHA165920134609588
HP:0002415HP:0002415Leukodystrophy0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM165920134609588
HP:0002415HP:0002415Leukodystrophy0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM123526938614908
HP:0002415HP:0002415Leukodystrophy0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM161525261118190
HP:0002415HP:0002415Leukodystrophy0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12313827302615316
HP:0002415HP:0002415Leukodystrophy0IFIH1 CL E G H6413551ORPHA12846218873606951
HP:0002415HP:0002415Leukodystrophy0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM123428660611006
HP:0002415HP:0002415Leukodystrophy0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM133719857615317
HP:0002415HP:0002415Leukodystrophy0LIPT1 CL E G H51601255241ORPHA196929569610284
HP:0002415HP:0002415Leukodystrophy0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM1351266637150340
HP:0002415HP:0002415Leukodystrophy0MTFMT CL E G H123263255241ORPHA11712429666611766
HP:0002415HP:0002415Leukodystrophy0NADK2 CL E G H133686431361ORPHA1310526404615787
HP:0002415HP:0002415Leukodystrophy0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM1310526404615787
HP:0002415HP:0002415Leukodystrophy0NDUFA10 CL E G H4705255241ORPHA163357684603835
HP:0002415HP:0002415Leukodystrophy0NDUFA12 CL E G H55967255241ORPHA145223987614530
HP:0002415HP:0002415Leukodystrophy0NDUFA13 CL E G H51079255241ORPHA131817194609435
HP:0002415HP:0002415Leukodystrophy0NDUFA2 CL E G H4695255241ORPHA14717685602137
HP:0002415HP:0002415Leukodystrophy0NDUFA4 CL E G H4697255241ORPHA12607687603833
HP:0002415HP:0002415Leukodystrophy0NDUFA9 CL E G H4704255241ORPHA131497693603834
HP:0002415HP:0002415Leukodystrophy0NDUFAF2 CL E G H91942255241ORPHA1810028086609653
HP:0002415HP:0002415Leukodystrophy0NDUFAF5 CL E G H79133255241ORPHA11221815899612360
HP:0002415HP:0002415Leukodystrophy0NDUFAF6 CL E G H137682255241ORPHA11016228625612392
HP:0002415HP:0002415Leukodystrophy0NDUFS1 CL E G H4719255241ORPHA1282567707157655
HP:0002415HP:0002415Leukodystrophy0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1282567707157655
HP:0002415HP:0002415Leukodystrophy0NDUFS2 CL E G H4720255241ORPHA1241357708602985
HP:0002415HP:0002415Leukodystrophy0NDUFS3 CL E G H4722255241ORPHA13757710603846
HP:0002415HP:0002415Leukodystrophy0NDUFS4 CL E G H4724255241ORPHA117977711602694
HP:0002415HP:0002415Leukodystrophy0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0002415HP:0002415Leukodystrophy0NDUFS7 CL E G H374291255241ORPHA181287714601825
HP:0002415HP:0002415Leukodystrophy0NDUFS8 CL E G H4728255241ORPHA113797715602141
HP:0002415HP:0002415Leukodystrophy0NDUFV1 CL E G H4723255241ORPHA1361727716161015
HP:0002415HP:0002415Leukodystrophy0NDUFV2 CL E G H4729255241ORPHA181607717600532
HP:0002415HP:0002415Leukodystrophy0NKX6-2 CL E G H84504527497ORPHA1911619321605955
HP:0002415HP:0002415Leukodystrophy0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM1911619321605955
HP:0002415HP:0002415Leukodystrophy0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM11422120278613621
HP:0002415HP:0002415Leukodystrophy0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM1425588636608786
HP:0002415HP:0002415Leukodystrophy0PDHA1 CL E G H5160255241ORPHA11935138806300502
HP:0002415HP:0002415Leukodystrophy0PET100 CL E G H100131801255241ORPHA124240038614770
HP:0002415HP:0002415Leukodystrophy0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11407828850602136
HP:0002415HP:0002415Leukodystrophy0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1152038857603360
HP:0002415HP:0002415Leukodystrophy0PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM1311629515611893
HP:0002415HP:0002415Leukodystrophy0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11623523166610316
HP:0002415HP:0002415Leukodystrophy0POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM12194420194610060
HP:0002415HP:0002415Leukodystrophy0POLR3A CL E G H11128447896ORPHA19245330074614258
HP:0002415HP:0002415Leukodystrophy0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19245330074614258
HP:0002415HP:0002415Leukodystrophy0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15828830348614366
HP:0002415HP:0002415Leukodystrophy0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM15828830348614366
HP:0002415HP:0002415Leukodystrophy0PSAP CL E G H5660309271ORPHA1273889498176801
HP:0002415HP:0002415Leukodystrophy0PSAP CL E G H5660309256ORPHA1273889498176801
HP:0002415HP:0002415Leukodystrophy0PSAP CL E G H5660309263ORPHA1273889498176801
HP:0002415HP:0002415Leukodystrophy0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1137430262616406
HP:0002415HP:0002415Leukodystrophy0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM1119870107820
HP:0002415HP:0002415Leukodystrophy0RNASEH2A CL E G H1053551ORPHA12118518518606034
HP:0002415HP:0002415Leukodystrophy0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12118518518606034
HP:0002415HP:0002415Leukodystrophy0RNASEH2B CL E G H7962151ORPHA14218925671610326
HP:0002415HP:0002415Leukodystrophy0RNASEH2C CL E G H8415351ORPHA11514424116610330
HP:0002415HP:0002415Leukodystrophy0SAMHD1 CL E G H2593951ORPHA15732415925606754
HP:0002415HP:0002415Leukodystrophy0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM15732415925606754
HP:0002415HP:0002415Leukodystrophy0SDHA CL E G H6389255241ORPHA191153810680600857
HP:0002415HP:0002415Leukodystrophy0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18827910923300095
HP:0002415HP:0002415Leukodystrophy0SLC19A3 CL E G H80704255241ORPHA13839316266606152
HP:0002415HP:0002415Leukodystrophy0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM1406732952616663
HP:0002415HP:0002415Leukodystrophy0SURF1 CL E G H6834255241ORPHA112823811474185620
HP:0002415HP:0002415Leukodystrophy0TACO1 CL E G H51204255241ORPHA137024316612958
HP:0002415HP:0002415Leukodystrophy0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM136022407613413
HP:0002415HP:0002415Leukodystrophy0TREX1 CL E G H1127751ORPHA17119712269606609
HP:0002415HP:0002415Leukodystrophy0TREX1 CL E G H11277247691ORPHA17119712269606609
HP:0002415HP:0002415Leukodystrophy0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14216320774602662
HP:0002415HP:0002415Leukodystrophy0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM1722612420602389
HP:0002415HP:0002415Leukodystrophy1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM11241423137150
HP:0002415HP:0002415Leukodystrophy1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM112616066617036
HP:0002415HP:0002415Leukodystrophy1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126384119609751
HP:0002415HP:0002415Leukodystrophy1ADAR CL E G H10351ORPHA1229468225146920
HP:0002415HP:0002415Leukodystrophy1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM155010648603605
HP:0002415HP:0002415Leukodystrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM137720609600859
HP:0002415HP:0002415Leukodystrophy1ARSA CL E G H410309256ORPHA1254723713607574
HP:0002415HP:0002415Leukodystrophy1ARSA CL E G H410309263ORPHA1254723713607574
HP:0002415HP:0002415Leukodystrophy1ARSA CL E G H410309271ORPHA1254723713607574
HP:0002415HP:0002415Leukodystrophy1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM166324415613183
HP:0002415HP:0002415Leukodystrophy1COX15 CL E G H1355255241ORPHA152152263603646
HP:0002415HP:0002415Leukodystrophy1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13472226169613129
HP:0002415HP:0002415Leukodystrophy1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113732666128239
HP:0002415HP:0002415Leukodystrophy1ECHS1 CL E G H1892255241ORPHA1332363151602292
HP:0002415HP:0002415Leukodystrophy1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1702183180131244
HP:0002415HP:0002415Leukodystrophy1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0002415HP:0002415Leukodystrophy1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM11222424587610531
HP:0002415HP:0002415Leukodystrophy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14845413601605654
HP:0002415HP:0002415Leukodystrophy1FOXRED1 CL E G H55572255241ORPHA1820926927613622
HP:0002415HP:0002415Leukodystrophy1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15716717494608803
HP:0002415HP:0002415Leukodystrophy1GLRX5 CL E G H51218401866ORPHA165920134609588
HP:0002415HP:0002415Leukodystrophy1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM165920134609588
HP:0002415HP:0002415Leukodystrophy1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM123526938614908
HP:0002415HP:0002415Leukodystrophy1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM161525261118190
HP:0002415HP:0002415Leukodystrophy1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12313827302615316
HP:0002415HP:0002415Leukodystrophy1IFIH1 CL E G H6413551ORPHA12846218873606951
HP:0002415HP:0002415Leukodystrophy1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM123428660611006
HP:0002415HP:0002415Leukodystrophy1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM133719857615317
HP:0002415HP:0002415Leukodystrophy1LIPT1 CL E G H51601255241ORPHA196929569610284
HP:0002415HP:0002415Leukodystrophy1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM1351266637150340
HP:0002415HP:0002415Leukodystrophy1MTFMT CL E G H123263255241ORPHA11712429666611766
HP:0002415HP:0002415Leukodystrophy1NADK2 CL E G H133686431361ORPHA1310526404615787
HP:0002415HP:0002415Leukodystrophy1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM1310526404615787
HP:0002415HP:0002415Leukodystrophy1NDUFA10 CL E G H4705255241ORPHA163357684603835
HP:0002415HP:0002415Leukodystrophy1NDUFA12 CL E G H55967255241ORPHA145223987614530
HP:0002415HP:0002415Leukodystrophy1NDUFA13 CL E G H51079255241ORPHA131817194609435
HP:0002415HP:0002415Leukodystrophy1NDUFA2 CL E G H4695255241ORPHA14717685602137
HP:0002415HP:0002415Leukodystrophy1NDUFA4 CL E G H4697255241ORPHA12607687603833
HP:0002415HP:0002415Leukodystrophy1NDUFA9 CL E G H4704255241ORPHA131497693603834
HP:0002415HP:0002415Leukodystrophy1NDUFAF2 CL E G H91942255241ORPHA1810028086609653
HP:0002415HP:0002415Leukodystrophy1NDUFAF5 CL E G H79133255241ORPHA11221815899612360
HP:0002415HP:0002415Leukodystrophy1NDUFAF6 CL E G H137682255241ORPHA11016228625612392
HP:0002415HP:0002415Leukodystrophy1NDUFS1 CL E G H4719255241ORPHA1282567707157655
HP:0002415HP:0002415Leukodystrophy1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1282567707157655
HP:0002415HP:0002415Leukodystrophy1NDUFS2 CL E G H4720255241ORPHA1241357708602985
HP:0002415HP:0002415Leukodystrophy1NDUFS3 CL E G H4722255241ORPHA13757710603846
HP:0002415HP:0002415Leukodystrophy1NDUFS4 CL E G H4724255241ORPHA117977711602694
HP:0002415HP:0002415Leukodystrophy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0002415HP:0002415Leukodystrophy1NDUFS7 CL E G H374291255241ORPHA181287714601825
HP:0002415HP:0002415Leukodystrophy1NDUFS8 CL E G H4728255241ORPHA113797715602141
HP:0002415HP:0002415Leukodystrophy1NDUFV1 CL E G H4723255241ORPHA1361727716161015
HP:0002415HP:0002415Leukodystrophy1NDUFV2 CL E G H4729255241ORPHA181607717600532
HP:0002415HP:0002415Leukodystrophy1NKX6-2 CL E G H84504527497ORPHA1911619321605955
HP:0002415HP:0002415Leukodystrophy1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM1911619321605955
HP:0002415HP:0002415Leukodystrophy1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM11422120278613621
HP:0002415HP:0002415Leukodystrophy1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM1425588636608786
HP:0002415HP:0002415Leukodystrophy1PDHA1 CL E G H5160255241ORPHA11935138806300502
HP:0002415HP:0002415Leukodystrophy1PET100 CL E G H100131801255241ORPHA124240038614770
HP:0002415HP:0002415Leukodystrophy1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11407828850602136
HP:0002415HP:0002415Leukodystrophy1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1152038857603360
HP:0002415HP:0002415Leukodystrophy1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM1311629515611893
HP:0002415HP:0002415Leukodystrophy1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11623523166610316
HP:0002415HP:0002415Leukodystrophy1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM12194420194610060
HP:0002415HP:0002415Leukodystrophy1POLR3A CL E G H11128447896ORPHA19245330074614258
HP:0002415HP:0002415Leukodystrophy1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19245330074614258
HP:0002415HP:0002415Leukodystrophy1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15828830348614366
HP:0002415HP:0002415Leukodystrophy1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM15828830348614366
HP:0002415HP:0002415Leukodystrophy1PSAP CL E G H5660309256ORPHA1273889498176801
HP:0002415HP:0002415Leukodystrophy1PSAP CL E G H5660309263ORPHA1273889498176801
HP:0002415HP:0002415Leukodystrophy1PSAP CL E G H5660309271ORPHA1273889498176801
HP:0002415HP:0002415Leukodystrophy1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1137430262616406
HP:0002415HP:0002415Leukodystrophy1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM1119870107820
HP:0002415HP:0002415Leukodystrophy1RNASEH2A CL E G H1053551ORPHA12118518518606034
HP:0002415HP:0002415Leukodystrophy1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12118518518606034
HP:0002415HP:0002415Leukodystrophy1RNASEH2B CL E G H7962151ORPHA14218925671610326
HP:0002415HP:0002415Leukodystrophy1RNASEH2C CL E G H8415351ORPHA11514424116610330
HP:0002415HP:0002415Leukodystrophy1SAMHD1 CL E G H2593951ORPHA15732415925606754
HP:0002415HP:0002415Leukodystrophy1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM15732415925606754
HP:0002415HP:0002415Leukodystrophy1SDHA CL E G H6389255241ORPHA191153810680600857
HP:0002415HP:0002415Leukodystrophy1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18827910923300095
HP:0002415HP:0002415Leukodystrophy1SLC19A3 CL E G H80704255241ORPHA13839316266606152
HP:0002415HP:0002415Leukodystrophy1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM1406732952616663
HP:0002415HP:0002415Leukodystrophy1SURF1 CL E G H6834255241ORPHA112823811474185620
HP:0002415HP:0002415Leukodystrophy1TACO1 CL E G H51204255241ORPHA137024316612958
HP:0002415HP:0002415Leukodystrophy1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM136022407613413
HP:0002415HP:0002415Leukodystrophy1TREX1 CL E G H1127751ORPHA17119712269606609
HP:0002415HP:0002415Leukodystrophy1TREX1 CL E G H11277247691ORPHA17119712269606609
HP:0002415HP:0002415Leukodystrophy1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14216320774602662
HP:0002415HP:0002415Leukodystrophy1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM1722612420602389
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002415HP:0002415Leukodystrophy0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM0229468225146920
HP:0002415HP:0002415Leukodystrophy0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM0826316429607031
HP:0002415HP:0002415Leukodystrophy0SP110 CL E G H343179124ORPHA0122445401604457
HP:0002415HP:0002415Leukodystrophy1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM0229468225146920
HP:0002415HP:0002415Leukodystrophy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM0826316429607031
HP:0002415HP:0002415Leukodystrophy1SP110 CL E G H343179124ORPHA0122445401604457


Genes (80) :ABAT ACER3 ACOX1 ADAR AIMP1 AIMP2 ARSA BOLA3 COX15 CTC1 DAG1 ECHS1 EDNRB EPRS FA2H FAM126A FBXL4 FOXRED1 GJC2 GLRX5 HIKESHI HSPD1 IBA57 IFIH1 ISCA1 ISCA2 LIAS LIPT1 LMNB1 MTFMT NADK2 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NKX6-2 NUBPL PC PDHA1 PET100 PEX1 PEX16 PLEKHG2 PLP1 PNPT1 POLR1C POLR3A POLR3B PSAP PYCR2 RARS RNASEH2A RNASEH2B RNASEH2C SAMHD1 SDHA SLC16A2 SLC19A3 SNORD118 SOX10 SP110 SURF1 TACO1 TMEM106B TREX1 TUBB4A TUFM

Diseases (59) :613163 617762 264470 51 615010 260600 618006 309256 309263 309271 614299 255241 612199 616538 277580 617951 610532 615471 608804 401866 616859 616881 612233 615330 617613 616370 614462 169500 431361 616034 618226 252010 527497 617560 618242 266150 601539 614877 616763 614932 616494 447896 607694 614381 616420 616140 610333 612952 300523 614561 79124 617964 247691 612438 610678 612319 312080 264090 609136
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.