Human Phenotype Ontology 
Grandparent Node:
expand
Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
expand
Abnormal glial cell morphology (HP:0100705)help
..Starting node
..expand
Gliosis (HP:0002171)help
Term ID: 2171
Name: Gliosis
Synonym: Cerebral gliosis; Excess astrocytes in brain
Definition: Gliosis is the focal proliferation of glial cells in the central nervous system.
Comments:
Reference: HP:0002171
Genes and Diseases:
 
       Child Nodes:
........expandMyelin-dependent gliosis (HP:0006990) help
........expandBasal ganglia gliosis (HP:0006999) help
........expandSubstantia nigra gliosis (HP:0011960) help
........expandCerebellar gliosis (HP:0012698) help
........expandHypothalamic gliosis (HP:0025037) help

 Sister Nodes: 
..expandAbnormal astrocyte morphology (HP:0100707) help
..expandAbnormal microglia morphology (HP:0100708) help
..expandAbnormal oligodendroglia morphology (HP:0100706) help
..expandAstrocytosis (HP:0002446) help
..expandGlioma (HP:0009733) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002171HP:0002171Gliosis0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0002171HP:0002171Gliosis0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0002171HP:0002171Gliosis0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0002171HP:0002171Gliosis0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002171HP:0002171Gliosis0AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM178894192340
HP:0002171HP:0002171Gliosis0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002171HP:0002171Gliosis0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0002171HP:0002171Gliosis0C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002171HP:0002171Gliosis0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002171HP:0002171Gliosis0CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002171HP:0002171Gliosis0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002171HP:0002171Gliosis0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12512263603646
HP:0002171HP:0002171Gliosis0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002171HP:0002171Gliosis0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002171HP:0002171Gliosis0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002171HP:0002171Gliosis0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002171HP:0002171Gliosis0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002171HP:0002171Gliosis0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002171HP:0002171Gliosis0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002171HP:0002171Gliosis0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0002171HP:0002171Gliosis0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002171HP:0002171Gliosis0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002171HP:0002171Gliosis0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002171HP:0002171Gliosis0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002171HP:0002171Gliosis0FUS CL E G H2521275872ORPHA14094010137070
HP:0002171HP:0002171Gliosis0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002171HP:0002171Gliosis0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002171HP:0002171Gliosis0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0002171HP:0002171Gliosis0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0002171HP:0002171Gliosis0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002171HP:0002171Gliosis0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0002171HP:0002171Gliosis0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0002171HP:0002171Gliosis0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002171HP:0002171Gliosis0MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15146893157140
HP:0002171HP:0002171Gliosis0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002171HP:0002171Gliosis0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM14387190603707
HP:0002171HP:0002171Gliosis0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12397193603708
HP:0002171HP:0002171Gliosis0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0002171HP:0002171Gliosis0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12978616167409
HP:0002171HP:0002171Gliosis0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0002171HP:0002171Gliosis0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002171HP:0002171Gliosis0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002171HP:0002171Gliosis0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002171HP:0002171Gliosis0PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11649449176640
HP:0002171HP:0002171Gliosis0PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14529508104311
HP:0002171HP:0002171Gliosis0RANBP2 CL E G H590388619ORPHA110859848601181
HP:0002171HP:0002171Gliosis0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0002171HP:0002171Gliosis0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12508943602445
HP:0002171HP:0002171Gliosis0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002171HP:0002171Gliosis0SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002171HP:0002171Gliosis0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0002171HP:0002171Gliosis0TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002171HP:0002171Gliosis0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002171HP:0002171Gliosis0TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002171HP:0002171Gliosis0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002171HP:0002171Gliosis0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0002171HP:0002171Gliosis0THOC2 CL E G H57187300957Mental retardation, X-linked 12300957C0796218OMIM128919073300395
HP:0002171HP:0002171Gliosis0TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM130427561608755
HP:0002171HP:0002171Gliosis0TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0002171HP:0002171Gliosis0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002171HP:0002171Gliosis0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0002171HP:0002171Gliosis0VCP CL E G H7415275872ORPHA147312666601023
HP:0002171HP:0002171Gliosis0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0002171HP:0011960Substantia nigra gliosis1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0002171HP:0012698Cerebellar gliosis1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0002171HP:0006990Myelin-dependent gliosis1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0002171HP:0006999Basal ganglia gliosis1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0002171HP:0025037Hypothalamic gliosis1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0002171HP:0033715Hippocampal sclerosis1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0002171HP:0033715Hippocampal sclerosis1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0002171HP:0012698Cerebellar gliosis1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0002171HP:0011960Substantia nigra gliosis1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0002171HP:0006999Basal ganglia gliosis1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0002171HP:0006990Myelin-dependent gliosis1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0002171HP:0025037Hypothalamic gliosis1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0002171HP:0011960Substantia nigra gliosis1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0002171HP:0012698Cerebellar gliosis1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0002171HP:0006990Myelin-dependent gliosis1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0002171HP:0006999Basal ganglia gliosis1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0002171HP:0025037Hypothalamic gliosis1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0002171HP:0033715Hippocampal sclerosis1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0002171HP:0006990Myelin-dependent gliosis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002171HP:0006999Basal ganglia gliosis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002171HP:0025037Hypothalamic gliosis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002171HP:0033715Hippocampal sclerosis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002171HP:0012698Cerebellar gliosis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002171HP:0011960Substantia nigra gliosis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002171HP:0033715Hippocampal sclerosis1AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM178894192340
HP:0002171HP:0012698Cerebellar gliosis1AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM178894192340
HP:0002171HP:0011960Substantia nigra gliosis1AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM178894192340
HP:0002171HP:0006999Basal ganglia gliosis1AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM178894192340
HP:0002171HP:0006990Myelin-dependent gliosis1AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM178894192340
HP:0002171HP:0025037Hypothalamic gliosis1AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM178894192340
HP:0002171HP:0033715Hippocampal sclerosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002171HP:0012698Cerebellar gliosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002171HP:0011960Substantia nigra gliosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002171HP:0006999Basal ganglia gliosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002171HP:0006990Myelin-dependent gliosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002171HP:0025037Hypothalamic gliosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002171HP:0033715Hippocampal sclerosis1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0002171HP:0012698Cerebellar gliosis1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0002171HP:0011960Substantia nigra gliosis1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0002171HP:0006999Basal ganglia gliosis1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0002171HP:0006990Myelin-dependent gliosis1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0002171HP:0025037Hypothalamic gliosis1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0002171HP:0006999Basal ganglia gliosis1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002171HP:0006990Myelin-dependent gliosis1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002171HP:0025037Hypothalamic gliosis1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002171HP:0033715Hippocampal sclerosis1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002171HP:0012698Cerebellar gliosis1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002171HP:0011960Substantia nigra gliosis1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002171HP:0025037Hypothalamic gliosis1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002171HP:0033715Hippocampal sclerosis1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002171HP:0012698Cerebellar gliosis1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002171HP:0011960Substantia nigra gliosis1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002171HP:0006999Basal ganglia gliosis1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002171HP:0006990Myelin-dependent gliosis1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002171HP:0012698Cerebellar gliosis1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002171HP:0011960Substantia nigra gliosis1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002171HP:0006999Basal ganglia gliosis1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002171HP:0006990Myelin-dependent gliosis1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002171HP:0025037Hypothalamic gliosis1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002171HP:0033715Hippocampal sclerosis1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002171HP:0025037Hypothalamic gliosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002171HP:0033715Hippocampal sclerosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002171HP:0012698Cerebellar gliosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002171HP:0011960Substantia nigra gliosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002171HP:0006999Basal ganglia gliosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002171HP:0006990Myelin-dependent gliosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002171HP:0033715Hippocampal sclerosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12512263603646
HP:0002171HP:0011960Substantia nigra gliosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12512263603646
HP:0002171HP:0012698Cerebellar gliosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12512263603646
HP:0002171HP:0006999Basal ganglia gliosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12512263603646
HP:0002171HP:0006990Myelin-dependent gliosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12512263603646
HP:0002171HP:0025037Hypothalamic gliosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12512263603646
HP:0002171HP:0006990Myelin-dependent gliosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002171HP:0006999Basal ganglia gliosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002171HP:0025037Hypothalamic gliosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002171HP:0033715Hippocampal sclerosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002171HP:0012698Cerebellar gliosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002171HP:0011960Substantia nigra gliosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002171HP:0011960Substantia nigra gliosis1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002171HP:0012698Cerebellar gliosis1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002171HP:0006990Myelin-dependent gliosis1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002171HP:0006999Basal ganglia gliosis1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002171HP:0025037Hypothalamic gliosis1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002171HP:0033715Hippocampal sclerosis1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002171HP:0025037Hypothalamic gliosis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002171HP:0033715Hippocampal sclerosis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002171HP:0012698Cerebellar gliosis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002171HP:0011960Substantia nigra gliosis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002171HP:0006999Basal ganglia gliosis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002171HP:0006990Myelin-dependent gliosis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002171HP:0006999Basal ganglia gliosis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002171HP:0006990Myelin-dependent gliosis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002171HP:0025037Hypothalamic gliosis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002171HP:0033715Hippocampal sclerosis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002171HP:0012698Cerebellar gliosis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002171HP:0011960Substantia nigra gliosis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002171HP:0011960Substantia nigra gliosis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002171HP:0012698Cerebellar gliosis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002171HP:0006990Myelin-dependent gliosis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002171HP:0006999Basal ganglia gliosis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002171HP:0025037Hypothalamic gliosis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002171HP:0033715Hippocampal sclerosis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002171HP:0033715Hippocampal sclerosis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002171HP:0012698Cerebellar gliosis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002171HP:0011960Substantia nigra gliosis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002171HP:0006999Basal ganglia gliosis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002171HP:0006990Myelin-dependent gliosis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002171HP:0025037Hypothalamic gliosis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002171HP:0025037Hypothalamic gliosis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002171HP:0033715Hippocampal sclerosis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002171HP:0012698Cerebellar gliosis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002171HP:0011960Substantia nigra gliosis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002171HP:0006999Basal ganglia gliosis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002171HP:0006990Myelin-dependent gliosis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002171HP:0033715Hippocampal sclerosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0002171HP:0012698Cerebellar gliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0002171HP:0011960Substantia nigra gliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0002171HP:0006999Basal ganglia gliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0002171HP:0006990Myelin-dependent gliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0002171HP:0025037Hypothalamic gliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0002171HP:0025037Hypothalamic gliosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002171HP:0033715Hippocampal sclerosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002171HP:0012698Cerebellar gliosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002171HP:0011960Substantia nigra gliosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002171HP:0006999Basal ganglia gliosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002171HP:0006990Myelin-dependent gliosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002171HP:0006990Myelin-dependent gliosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002171HP:0006999Basal ganglia gliosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002171HP:0025037Hypothalamic gliosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002171HP:0033715Hippocampal sclerosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002171HP:0012698Cerebellar gliosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002171HP:0011960Substantia nigra gliosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002171HP:0012698Cerebellar gliosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002171HP:0011960Substantia nigra gliosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002171HP:0006999Basal ganglia gliosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002171HP:0006990Myelin-dependent gliosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002171HP:0025037Hypothalamic gliosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002171HP:0033715Hippocampal sclerosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002171HP:0025037Hypothalamic gliosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002171HP:0033715Hippocampal sclerosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002171HP:0012698Cerebellar gliosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002171HP:0011960Substantia nigra gliosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002171HP:0006999Basal ganglia gliosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002171HP:0006990Myelin-dependent gliosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002171HP:0033715Hippocampal sclerosis1FUS CL E G H2521275872ORPHA14094010137070
HP:0002171HP:0011960Substantia nigra gliosis1FUS CL E G H2521275872ORPHA14094010137070
HP:0002171HP:0012698Cerebellar gliosis1FUS CL E G H2521275872ORPHA14094010137070
HP:0002171HP:0006999Basal ganglia gliosis1FUS CL E G H2521275872ORPHA14094010137070
HP:0002171HP:0006990Myelin-dependent gliosis1FUS CL E G H2521275872ORPHA14094010137070
HP:0002171HP:0025037Hypothalamic gliosis1FUS CL E G H2521275872ORPHA14094010137070
HP:0002171HP:0006999Basal ganglia gliosis1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002171HP:0006990Myelin-dependent gliosis1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002171HP:0025037Hypothalamic gliosis1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002171HP:0033715Hippocampal sclerosis1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002171HP:0012698Cerebellar gliosis1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002171HP:0011960Substantia nigra gliosis1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002171HP:0006999Basal ganglia gliosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002171HP:0006990Myelin-dependent gliosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002171HP:0025037Hypothalamic gliosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002171HP:0033715Hippocampal sclerosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002171HP:0012698Cerebellar gliosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002171HP:0011960Substantia nigra gliosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002171HP:0025037Hypothalamic gliosis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0002171HP:0033715Hippocampal sclerosis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0002171HP:0012698Cerebellar gliosis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0002171HP:0011960Substantia nigra gliosis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0002171HP:0006999Basal ganglia gliosis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0002171HP:0006990Myelin-dependent gliosis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0002171HP:0006999Basal ganglia gliosis1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0002171HP:0006990Myelin-dependent gliosis1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0002171HP:0025037Hypothalamic gliosis1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0002171HP:0033715Hippocampal sclerosis1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0002171HP:0012698Cerebellar gliosis1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0002171HP:0011960Substantia nigra gliosis1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0002171HP:0033715Hippocampal sclerosis1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002171HP:0011960Substantia nigra gliosis1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002171HP:0012698Cerebellar gliosis1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002171HP:0006999Basal ganglia gliosis1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002171HP:0006990Myelin-dependent gliosis1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002171HP:0025037Hypothalamic gliosis1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002171HP:0011960Substantia nigra gliosis1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0002171HP:0012698Cerebellar gliosis1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0002171HP:0006990Myelin-dependent gliosis1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0002171HP:0006999Basal ganglia gliosis1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0002171HP:0025037Hypothalamic gliosis1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0002171HP:0033715Hippocampal sclerosis1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0002171HP:0025037Hypothalamic gliosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0002171HP:0033715Hippocampal sclerosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0002171HP:0012698Cerebellar gliosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0002171HP:0011960Substantia nigra gliosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0002171HP:0006999Basal ganglia gliosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0002171HP:0006990Myelin-dependent gliosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0002171HP:0025037Hypothalamic gliosis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002171HP:0033715Hippocampal sclerosis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002171HP:0012698Cerebellar gliosis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002171HP:0011960Substantia nigra gliosis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002171HP:0006999Basal ganglia gliosis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002171HP:0006990Myelin-dependent gliosis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002171HP:0033715Hippocampal sclerosis1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15146893157140
HP:0002171HP:0012698Cerebellar gliosis1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15146893157140
HP:0002171HP:0011960Substantia nigra gliosis1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15146893157140
HP:0002171HP:0006999Basal ganglia gliosis1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15146893157140
HP:0002171HP:0006990Myelin-dependent gliosis1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15146893157140
HP:0002171HP:0025037Hypothalamic gliosis1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15146893157140
HP:0002171HP:0033715Hippocampal sclerosis1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002171HP:0011960Substantia nigra gliosis1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002171HP:0012698Cerebellar gliosis1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002171HP:0006999Basal ganglia gliosis1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002171HP:0006990Myelin-dependent gliosis1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002171HP:0025037Hypothalamic gliosis1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002171HP:0006999Basal ganglia gliosis1MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM14387190603707
HP:0002171HP:0006990Myelin-dependent gliosis1MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM14387190603707
HP:0002171HP:0025037Hypothalamic gliosis1MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM14387190603707
HP:0002171HP:0033715Hippocampal sclerosis1MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM14387190603707
HP:0002171HP:0012698Cerebellar gliosis1MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM14387190603707
HP:0002171HP:0011960Substantia nigra gliosis1MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM14387190603707
HP:0002171HP:0011960Substantia nigra gliosis1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12397193603708
HP:0002171HP:0012698Cerebellar gliosis1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12397193603708
HP:0002171HP:0006990Myelin-dependent gliosis1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12397193603708
HP:0002171HP:0006999Basal ganglia gliosis1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12397193603708
HP:0002171HP:0025037Hypothalamic gliosis1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12397193603708
HP:0002171HP:0033715Hippocampal sclerosis1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12397193603708
HP:0002171HP:0025037Hypothalamic gliosis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0002171HP:0033715Hippocampal sclerosis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0002171HP:0012698Cerebellar gliosis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0002171HP:0011960Substantia nigra gliosis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0002171HP:0006999Basal ganglia gliosis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0002171HP:0006990Myelin-dependent gliosis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0002171HP:0012698Cerebellar gliosis1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12978616167409
HP:0002171HP:0011960Substantia nigra gliosis1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12978616167409
HP:0002171HP:0006999Basal ganglia gliosis1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12978616167409
HP:0002171HP:0006990Myelin-dependent gliosis1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12978616167409
HP:0002171HP:0025037Hypothalamic gliosis1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12978616167409
HP:0002171HP:0033715Hippocampal sclerosis1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12978616167409
HP:0002171HP:0006999Basal ganglia gliosis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0002171HP:0006990Myelin-dependent gliosis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0002171HP:0025037Hypothalamic gliosis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0002171HP:0033715Hippocampal sclerosis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0002171HP:0012698Cerebellar gliosis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0002171HP:0011960Substantia nigra gliosis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0002171HP:0025037Hypothalamic gliosis1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002171HP:0033715Hippocampal sclerosis1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002171HP:0012698Cerebellar gliosis1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002171HP:0011960Substantia nigra gliosis1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002171HP:0006999Basal ganglia gliosis1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002171HP:0006990Myelin-dependent gliosis1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002171HP:0012698Cerebellar gliosis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002171HP:0011960Substantia nigra gliosis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002171HP:0006999Basal ganglia gliosis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002171HP:0006990Myelin-dependent gliosis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002171HP:0025037Hypothalamic gliosis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002171HP:0033715Hippocampal sclerosis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002171HP:0006990Myelin-dependent gliosis1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002171HP:0006999Basal ganglia gliosis1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002171HP:0025037Hypothalamic gliosis1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002171HP:0033715Hippocampal sclerosis1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002171HP:0012698Cerebellar gliosis1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002171HP:0011960Substantia nigra gliosis1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002171HP:0033715Hippocampal sclerosis1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11649449176640
HP:0002171HP:0011960Substantia nigra gliosis1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11649449176640
HP:0002171HP:0012698Cerebellar gliosis1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11649449176640
HP:0002171HP:0006999Basal ganglia gliosis1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11649449176640
HP:0002171HP:0006990Myelin-dependent gliosis1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11649449176640
HP:0002171HP:0025037Hypothalamic gliosis1PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11649449176640
HP:0002171HP:0025037Hypothalamic gliosis1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14529508104311
HP:0002171HP:0033715Hippocampal sclerosis1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14529508104311
HP:0002171HP:0012698Cerebellar gliosis1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14529508104311
HP:0002171HP:0011960Substantia nigra gliosis1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14529508104311
HP:0002171HP:0006999Basal ganglia gliosis1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14529508104311
HP:0002171HP:0006990Myelin-dependent gliosis1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14529508104311
HP:0002171HP:0033715Hippocampal sclerosis1RANBP2 CL E G H590388619ORPHA110859848601181
HP:0002171HP:0012698Cerebellar gliosis1RANBP2 CL E G H590388619ORPHA110859848601181
HP:0002171HP:0011960Substantia nigra gliosis1RANBP2 CL E G H590388619ORPHA110859848601181
HP:0002171HP:0006999Basal ganglia gliosis1RANBP2 CL E G H590388619ORPHA110859848601181
HP:0002171HP:0006990Myelin-dependent gliosis1RANBP2 CL E G H590388619ORPHA110859848601181
HP:0002171HP:0025037Hypothalamic gliosis1RANBP2 CL E G H590388619ORPHA110859848601181
HP:0002171HP:0012698Cerebellar gliosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0002171HP:0011960Substantia nigra gliosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0002171HP:0006999Basal ganglia gliosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0002171HP:0006990Myelin-dependent gliosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0002171HP:0025037Hypothalamic gliosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0002171HP:0033715Hippocampal sclerosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0002171HP:0006999Basal ganglia gliosis1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12508943602445
HP:0002171HP:0006990Myelin-dependent gliosis1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12508943602445
HP:0002171HP:0025037Hypothalamic gliosis1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12508943602445
HP:0002171HP:0033715Hippocampal sclerosis1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12508943602445
HP:0002171HP:0012698Cerebellar gliosis1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12508943602445
HP:0002171HP:0011960Substantia nigra gliosis1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12508943602445
HP:0002171HP:0006999Basal ganglia gliosis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002171HP:0006990Myelin-dependent gliosis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002171HP:0025037Hypothalamic gliosis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002171HP:0033715Hippocampal sclerosis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002171HP:0012698Cerebellar gliosis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002171HP:0011960Substantia nigra gliosis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002171HP:0025037Hypothalamic gliosis1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002171HP:0033715Hippocampal sclerosis1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002171HP:0012698Cerebellar gliosis1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002171HP:0011960Substantia nigra gliosis1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002171HP:0006999Basal ganglia gliosis1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002171HP:0006990Myelin-dependent gliosis1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002171HP:0033715Hippocampal sclerosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0002171HP:0011960Substantia nigra gliosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0002171HP:0012698Cerebellar gliosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0002171HP:0006999Basal ganglia gliosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0002171HP:0006990Myelin-dependent gliosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0002171HP:0025037Hypothalamic gliosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0002171HP:0006999Basal ganglia gliosis1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002171HP:0006990Myelin-dependent gliosis1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002171HP:0025037Hypothalamic gliosis1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002171HP:0033715Hippocampal sclerosis1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002171HP:0012698Cerebellar gliosis1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002171HP:0011960Substantia nigra gliosis1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002171HP:0006999Basal ganglia gliosis1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002171HP:0006990Myelin-dependent gliosis1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002171HP:0025037Hypothalamic gliosis1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002171HP:0033715Hippocampal sclerosis1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002171HP:0012698Cerebellar gliosis1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002171HP:0011960Substantia nigra gliosis1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002171HP:0011960Substantia nigra gliosis1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002171HP:0012698Cerebellar gliosis1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002171HP:0006990Myelin-dependent gliosis1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002171HP:0006999Basal ganglia gliosis1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002171HP:0025037Hypothalamic gliosis1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002171HP:0033715Hippocampal sclerosis1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002171HP:0025037Hypothalamic gliosis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002171HP:0033715Hippocampal sclerosis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002171HP:0012698Cerebellar gliosis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002171HP:0011960Substantia nigra gliosis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002171HP:0006999Basal ganglia gliosis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002171HP:0006990Myelin-dependent gliosis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002171HP:0012698Cerebellar gliosis1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0002171HP:0011960Substantia nigra gliosis1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0002171HP:0006999Basal ganglia gliosis1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0002171HP:0006990Myelin-dependent gliosis1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0002171HP:0025037Hypothalamic gliosis1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0002171HP:0033715Hippocampal sclerosis1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0002171HP:0012698Cerebellar gliosis1THOC2 CL E G H57187300957Mental retardation, X-linked 12300957C0796218OMIM128919073300395
HP:0002171HP:0011960Substantia nigra gliosis1THOC2 CL E G H57187300957Mental retardation, X-linked 12300957C0796218OMIM128919073300395
HP:0002171HP:0006999Basal ganglia gliosis1THOC2 CL E G H57187300957Mental retardation, X-linked 12300957C0796218OMIM128919073300395
HP:0002171HP:0006990Myelin-dependent gliosis1THOC2 CL E G H57187300957Mental retardation, X-linked 12300957C0796218OMIM128919073300395
HP:0002171HP:0025037Hypothalamic gliosis1THOC2 CL E G H57187300957Mental retardation, X-linked 12300957C0796218OMIM128919073300395
HP:0002171HP:0033715Hippocampal sclerosis1THOC2 CL E G H57187300957Mental retardation, X-linked 12300957C0796218OMIM128919073300395
HP:0002171HP:0011960Substantia nigra gliosis1TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM130427561608755
HP:0002171HP:0012698Cerebellar gliosis1TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM130427561608755
HP:0002171HP:0006990Myelin-dependent gliosis1TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM130427561608755
HP:0002171HP:0006999Basal ganglia gliosis1TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM130427561608755
HP:0002171HP:0025037Hypothalamic gliosis1TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM130427561608755
HP:0002171HP:0033715Hippocampal sclerosis1TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM130427561608755
HP:0002171HP:0033715Hippocampal sclerosis1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0002171HP:0012698Cerebellar gliosis1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0002171HP:0011960Substantia nigra gliosis1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0002171HP:0006999Basal ganglia gliosis1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0002171HP:0006990Myelin-dependent gliosis1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0002171HP:0025037Hypothalamic gliosis1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0002171HP:0006999Basal ganglia gliosis1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002171HP:0006990Myelin-dependent gliosis1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002171HP:0025037Hypothalamic gliosis1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002171HP:0033715Hippocampal sclerosis1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002171HP:0012698Cerebellar gliosis1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002171HP:0011960Substantia nigra gliosis1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002171HP:0025037Hypothalamic gliosis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0002171HP:0033715Hippocampal sclerosis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0002171HP:0012698Cerebellar gliosis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0002171HP:0011960Substantia nigra gliosis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0002171HP:0006999Basal ganglia gliosis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0002171HP:0006990Myelin-dependent gliosis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0002171HP:0033715Hippocampal sclerosis1VCP CL E G H7415275872ORPHA147312666601023
HP:0002171HP:0012698Cerebellar gliosis1VCP CL E G H7415275872ORPHA147312666601023
HP:0002171HP:0011960Substantia nigra gliosis1VCP CL E G H7415275872ORPHA147312666601023
HP:0002171HP:0006999Basal ganglia gliosis1VCP CL E G H7415275872ORPHA147312666601023
HP:0002171HP:0006990Myelin-dependent gliosis1VCP CL E G H7415275872ORPHA147312666601023
HP:0002171HP:0025037Hypothalamic gliosis1VCP CL E G H7415275872ORPHA147312666601023
HP:0002171HP:0012698Cerebellar gliosis1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0002171HP:0011960Substantia nigra gliosis1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0002171HP:0006999Basal ganglia gliosis1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0002171HP:0006990Myelin-dependent gliosis1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0002171HP:0025037Hypothalamic gliosis1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0002171HP:0033715Hippocampal sclerosis1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002171HP:0002171Gliosis0DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0002171HP:0002171Gliosis0EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0002171HP:0002171Gliosis0GBA CL E G H2629411602ORPHA04177606463
HP:0002171HP:0002171Gliosis0GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0002171HP:0002171Gliosis0LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0002171HP:0002171Gliosis0PRNP CL E G H5621157941ORPHA01649449176640
HP:0002171HP:0002171Gliosis0SNCA CL E G H6622411602ORPHA017711138163890
HP:0002171HP:0002171Gliosis0VPS35 CL E G H55737411602ORPHA018413487601501
HP:0002171HP:0025037Hypothalamic gliosis1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0002171HP:0033715Hippocampal sclerosis1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0002171HP:0012698Cerebellar gliosis1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0002171HP:0011960Substantia nigra gliosis1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0002171HP:0006999Basal ganglia gliosis1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0002171HP:0006990Myelin-dependent gliosis1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0002171HP:0006999Basal ganglia gliosis1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0002171HP:0006990Myelin-dependent gliosis1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0002171HP:0025037Hypothalamic gliosis1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0002171HP:0033715Hippocampal sclerosis1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0002171HP:0012698Cerebellar gliosis1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0002171HP:0011960Substantia nigra gliosis1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0002171HP:0012698Cerebellar gliosis1GBA CL E G H2629411602ORPHA04177606463
HP:0002171HP:0011960Substantia nigra gliosis1GBA CL E G H2629411602ORPHA04177606463
HP:0002171HP:0006999Basal ganglia gliosis1GBA CL E G H2629411602ORPHA04177606463
HP:0002171HP:0006990Myelin-dependent gliosis1GBA CL E G H2629411602ORPHA04177606463
HP:0002171HP:0025037Hypothalamic gliosis1GBA CL E G H2629411602ORPHA04177606463
HP:0002171HP:0033715Hippocampal sclerosis1GBA CL E G H2629411602ORPHA04177606463
HP:0002171HP:0033715Hippocampal sclerosis1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0002171HP:0012698Cerebellar gliosis1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0002171HP:0011960Substantia nigra gliosis1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0002171HP:0006999Basal ganglia gliosis1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0002171HP:0006990Myelin-dependent gliosis1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0002171HP:0025037Hypothalamic gliosis1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0002171HP:0006999Basal ganglia gliosis1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0002171HP:0006990Myelin-dependent gliosis1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0002171HP:0025037Hypothalamic gliosis1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0002171HP:0033715Hippocampal sclerosis1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0002171HP:0012698Cerebellar gliosis1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0002171HP:0011960Substantia nigra gliosis1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0002171HP:0025037Hypothalamic gliosis1PRNP CL E G H5621157941ORPHA01649449176640
HP:0002171HP:0033715Hippocampal sclerosis1PRNP CL E G H5621157941ORPHA01649449176640
HP:0002171HP:0012698Cerebellar gliosis1PRNP CL E G H5621157941ORPHA01649449176640
HP:0002171HP:0011960Substantia nigra gliosis1PRNP CL E G H5621157941ORPHA01649449176640
HP:0002171HP:0006999Basal ganglia gliosis1PRNP CL E G H5621157941ORPHA01649449176640
HP:0002171HP:0006990Myelin-dependent gliosis1PRNP CL E G H5621157941ORPHA01649449176640
HP:0002171HP:0012698Cerebellar gliosis1SNCA CL E G H6622411602ORPHA017711138163890
HP:0002171HP:0011960Substantia nigra gliosis1SNCA CL E G H6622411602ORPHA017711138163890
HP:0002171HP:0006999Basal ganglia gliosis1SNCA CL E G H6622411602ORPHA017711138163890
HP:0002171HP:0006990Myelin-dependent gliosis1SNCA CL E G H6622411602ORPHA017711138163890
HP:0002171HP:0025037Hypothalamic gliosis1SNCA CL E G H6622411602ORPHA017711138163890
HP:0002171HP:0033715Hippocampal sclerosis1SNCA CL E G H6622411602ORPHA017711138163890
HP:0002171HP:0033715Hippocampal sclerosis1VPS35 CL E G H55737411602ORPHA018413487601501
HP:0002171HP:0011960Substantia nigra gliosis1VPS35 CL E G H55737411602ORPHA018413487601501
HP:0002171HP:0012698Cerebellar gliosis1VPS35 CL E G H55737411602ORPHA018413487601501
HP:0002171HP:0006990Myelin-dependent gliosis1VPS35 CL E G H55737411602ORPHA018413487601501
HP:0002171HP:0006999Basal ganglia gliosis1VPS35 CL E G H55737411602ORPHA018413487601501
HP:0002171HP:0025037Hypothalamic gliosis1VPS35 CL E G H55737411602ORPHA018413487601501


Genes (75) :ADAR AP4M1 ARX ATP6 ATP6V1A ATXN3 AVP BCS1L BRAT1 C9ORF72 C9orf72 CHCHD10 COX10 COX15 CSF1R DNAJC13 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF4G1 ERCC6 ETFA ETFB ETFDH FARS2 FBXO7 FUS GBA GIGYF2 GRN HSD17B4 HTT KCNT1 L2HGDH LMNB1 LRPPRC LRRK2 MAN2B1 MAPT MOCS1 MOCS2 NARS2 NR4A2 NUP62 PAX2 PIGA PLA2G6 PMPCA POLG PRKN PRNP PSEN1 RANBP2 SCO2 SDHA SERPINI1 SNCA SNCAIP SQSTM1 SURF1 TARDBP TBCD TBK1 TBP TFG THOC2 TSEN54 TYROBP UBQLN2 VCP VPS35 VRK1 ZNF335

Diseases (58) :612936 300215 617403 109150 125700 256000 614498 275872 105550 615119 221820 411602 603896 214150 231680 614946 607485 261515 143100 614959 236792 169500 220111 248500 172700 601104 252150 252160 616239 120330 300868 256600 213200 203700 157941 606688 88619 604218 168601 617193 607136 604484 300957 277470 225753 221770 300857 615095 225154 276238 276241 276244 171695 168600 600116 603218 604377 607596
 

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