Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002171 | HP:0002171 | Gliosis | 0 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 429 | 574 | 602296 |
HP:0002171 | HP:0002171 | Gliosis | 0 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002171 | HP:0002171 | Gliosis | 0 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0002171 | HP:0002171 | Gliosis | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0002171 | HP:0002171 | Gliosis | 0 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 102 | 894 | 192340 |
HP:0002171 | HP:0002171 | Gliosis | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0002171 | HP:0002171 | Gliosis | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 1147 | 21701 | 614506 |
HP:0002171 | HP:0002171 | Gliosis | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0002171 | Gliosis | 0 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0002171 | Gliosis | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002171 | HP:0002171 | Gliosis | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0002171 | HP:0002171 | Gliosis | 0 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0002171 | Gliosis | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0002171 | Gliosis | 0 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 696 | 2433 | 164770 |
HP:0002171 | HP:0002171 | Gliosis | 0 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002171 | HP:0002171 | Gliosis | 0 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002171 | HP:0002171 | Gliosis | 0 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002171 | HP:0002171 | Gliosis | 0 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002171 | HP:0002171 | Gliosis | 0 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002171 | HP:0002171 | Gliosis | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0002171 | HP:0002171 | Gliosis | 0 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0002171 | HP:0002171 | Gliosis | 0 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0002171 | HP:0002171 | Gliosis | 0 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0002171 | HP:0002171 | Gliosis | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0002171 | HP:0002171 | Gliosis | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002171 | HP:0002171 | Gliosis | 0 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002171 | HP:0002171 | Gliosis | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0002171 | HP:0002171 | Gliosis | 0 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002171 | HP:0002171 | Gliosis | 0 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002171 | HP:0002171 | Gliosis | 0 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002171 | HP:0002171 | Gliosis | 0 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 241 | 6637 | 150340 |
HP:0002171 | HP:0002171 | Gliosis | 0 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0002171 | HP:0002171 | Gliosis | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0002171 | HP:0002171 | Gliosis | 0 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0002171 | Gliosis | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0002171 | Gliosis | 0 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 593 | 7190 | 603707 |
HP:0002171 | HP:0002171 | Gliosis | 0 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 305 | 7193 | 603708 |
HP:0002171 | HP:0002171 | Gliosis | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 302 | 26274 | 612803 |
HP:0002171 | HP:0002171 | Gliosis | 0 | PAX2 CL E G H | 5076 | 120330 | Renal coloboma syndrome | 120330 | C1852759 | OMIM | 1 | | 406 | 8616 | 167409 |
HP:0002171 | HP:0002171 | Gliosis | 0 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0002171 | HP:0002171 | Gliosis | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002171 | HP:0002171 | Gliosis | 0 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0002171 | HP:0002171 | Gliosis | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002171 | HP:0002171 | Gliosis | 0 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0002171 | Gliosis | 0 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002171 | HP:0002171 | Gliosis | 0 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002171 | HP:0002171 | Gliosis | 0 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002171 | HP:0002171 | Gliosis | 0 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0002171 | HP:0002171 | Gliosis | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0002171 | Gliosis | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002171 | HP:0002171 | Gliosis | 0 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0002171 | HP:0002171 | Gliosis | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002171 | HP:0002171 | Gliosis | 0 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002171 | HP:0002171 | Gliosis | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002171 | HP:0002171 | Gliosis | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0002171 | HP:0002171 | Gliosis | 0 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002171 | HP:0002171 | Gliosis | 0 | THOC2 CL E G H | 57187 | 300957 | Mental retardation, X-linked 12 | 300957 | C0796218 | OMIM | 1 | | 337 | 19073 | 300395 |
HP:0002171 | HP:0002171 | Gliosis | 0 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0002171 | Gliosis | 0 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0002171 | Gliosis | 0 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0002171 | HP:0002171 | Gliosis | 0 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002171 | HP:0002171 | Gliosis | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002171 | HP:0002171 | Gliosis | 0 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 507 | 15807 | 610827 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 429 | 574 | 602296 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 429 | 574 | 602296 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 429 | 574 | 602296 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 429 | 574 | 602296 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 429 | 574 | 602296 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 429 | 574 | 602296 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 102 | 894 | 192340 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 102 | 894 | 192340 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 102 | 894 | 192340 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 102 | 894 | 192340 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 102 | 894 | 192340 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 102 | 894 | 192340 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 1147 | 21701 | 614506 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 1147 | 21701 | 614506 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 1147 | 21701 | 614506 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 1147 | 21701 | 614506 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 1147 | 21701 | 614506 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 1147 | 21701 | 614506 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 696 | 2433 | 164770 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 696 | 2433 | 164770 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 696 | 2433 | 164770 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 696 | 2433 | 164770 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 696 | 2433 | 164770 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 696 | 2433 | 164770 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 241 | 6637 | 150340 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 241 | 6637 | 150340 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 241 | 6637 | 150340 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 241 | 6637 | 150340 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 241 | 6637 | 150340 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 241 | 6637 | 150340 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 593 | 7190 | 603707 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 593 | 7190 | 603707 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 593 | 7190 | 603707 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 593 | 7190 | 603707 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 593 | 7190 | 603707 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 593 | 7190 | 603707 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 305 | 7193 | 603708 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 305 | 7193 | 603708 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 305 | 7193 | 603708 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 305 | 7193 | 603708 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 305 | 7193 | 603708 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 305 | 7193 | 603708 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 302 | 26274 | 612803 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 302 | 26274 | 612803 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 302 | 26274 | 612803 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 302 | 26274 | 612803 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 302 | 26274 | 612803 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 302 | 26274 | 612803 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | PAX2 CL E G H | 5076 | 120330 | Renal coloboma syndrome | 120330 | C1852759 | OMIM | 1 | | 406 | 8616 | 167409 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | PAX2 CL E G H | 5076 | 120330 | Renal coloboma syndrome | 120330 | C1852759 | OMIM | 1 | | 406 | 8616 | 167409 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | PAX2 CL E G H | 5076 | 120330 | Renal coloboma syndrome | 120330 | C1852759 | OMIM | 1 | | 406 | 8616 | 167409 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | PAX2 CL E G H | 5076 | 120330 | Renal coloboma syndrome | 120330 | C1852759 | OMIM | 1 | | 406 | 8616 | 167409 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | PAX2 CL E G H | 5076 | 120330 | Renal coloboma syndrome | 120330 | C1852759 | OMIM | 1 | | 406 | 8616 | 167409 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | PAX2 CL E G H | 5076 | 120330 | Renal coloboma syndrome | 120330 | C1852759 | OMIM | 1 | | 406 | 8616 | 167409 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | THOC2 CL E G H | 57187 | 300957 | Mental retardation, X-linked 12 | 300957 | C0796218 | OMIM | 1 | | 337 | 19073 | 300395 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | THOC2 CL E G H | 57187 | 300957 | Mental retardation, X-linked 12 | 300957 | C0796218 | OMIM | 1 | | 337 | 19073 | 300395 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | THOC2 CL E G H | 57187 | 300957 | Mental retardation, X-linked 12 | 300957 | C0796218 | OMIM | 1 | | 337 | 19073 | 300395 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | THOC2 CL E G H | 57187 | 300957 | Mental retardation, X-linked 12 | 300957 | C0796218 | OMIM | 1 | | 337 | 19073 | 300395 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | THOC2 CL E G H | 57187 | 300957 | Mental retardation, X-linked 12 | 300957 | C0796218 | OMIM | 1 | | 337 | 19073 | 300395 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | THOC2 CL E G H | 57187 | 300957 | Mental retardation, X-linked 12 | 300957 | C0796218 | OMIM | 1 | | 337 | 19073 | 300395 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 507 | 15807 | 610827 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 507 | 15807 | 610827 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 507 | 15807 | 610827 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 507 | 15807 | 610827 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 507 | 15807 | 610827 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 507 | 15807 | 610827 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002171 | HP:0002171 | Gliosis | 0 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0002171 | HP:0002171 | Gliosis | 0 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0002171 | HP:0002171 | Gliosis | 0 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0002171 | HP:0002171 | Gliosis | 0 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0002171 | HP:0002171 | Gliosis | 0 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0002171 | HP:0002171 | Gliosis | 0 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0002171 | Gliosis | 0 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0002171 | Gliosis | 0 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0002171 | HP:0033715 | Hippocampal sclerosis | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0002171 | HP:0012698 | Cerebellar gliosis | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0002171 | HP:0011960 | Substantia nigra gliosis | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0002171 | HP:0006999 | Basal ganglia gliosis | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0002171 | HP:0006990 | Myelin-dependent gliosis | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0002171 | HP:0025037 | Hypothalamic gliosis | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |