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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:neuroaxonal dystrophy
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Accession:DOID:2367 term browser browse the term
Definition:A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Synonyms:exact_synonym: adult neuroaxonal dystrophy;   juvenile neuroaxonal dystrophy;   late infantile neuroaxonal dystrophy;   neuroaxonal dystrophies
 broad_synonym: PLA2G6-associated neurodegeneration;   PLA2G6-related NBIA
 primary_id: MESH:D019150
 alt_id: OMIA:000715
 xref: NCI:C161542
For additional species annotation, visit the Alliance of Genome Resources.


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neuroaxonal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:266,451,021...266,464,903
Ensembl chr 1:266,451,021...266,464,903
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD Direct Evidence: marker/mechanism
CTD PMID:2243144, PMID:2243144 RGD:1600557 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:insertion:intron (mouse)
DNA:deletion:cds:p.V691del (human)
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:point mutation:cds
RGD PMID:22442204, PMID:17033970, PMID:18305254, PMID:19138334, PMID:19893029 RGD:6482732, RGD:6482740, RGD:6482739, RGD:6482736, RGD:6482735 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
JBrowse link
cerebral folate receptor alpha deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,981,738...166,985,363
Ensembl chr 1:166,983,175...166,985,054
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar Annotator: match by term: Cerebral folate deficiency
ClinVar Annotator: match by OMIM:613068
OMIM
ClinVar
PMID:18842806 PMID:19732866 PMID:20018644 PMID:20683905 PMID:21752681 PMID:21937992 PMID:22586289 PMID:22695967 PMID:24556562 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27781028 PMID:27884173 PMID:28054128 PMID:28492532 PMID:29661558 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,991,474...166,997,045
Ensembl chr 1:166,991,474...166,997,045
JBrowse link
G LOC685544 hypothetical protein LOC685544 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:215,460,226...215,460,918
Ensembl chr 1:215,460,226...215,460,918
JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,985,468...166,989,681
Ensembl chr 1:166,986,013...166,988,062
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453
JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,095,916...167,165,257
Ensembl chr 1:167,095,962...167,165,265
JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
ClinVar Annotator: match by OMIM:607236
OMIM
ClinVar
PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:14638969 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16437574 PMID:16450344 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:30311386 PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
Karak Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by null ClinVar PMID:16783378 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
neurodegeneration with brain iron accumulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:29395073 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
ClinVar Annotator: match by term: Iron accumulation in brain
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16437574 PMID:16450344 PMID:20629144 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:30311386 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar PMID:10227637 PMID:12843330 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:19138334 PMID:19893029 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20886109 PMID:20938027 PMID:20947703 PMID:22934738 PMID:24033266 PMID:24108619 PMID:24130795 PMID:24745848 PMID:24800972 PMID:24847269 PMID:25164370 PMID:25326635 PMID:25326637 PMID:25558065 PMID:25741868 PMID:26668131 PMID:27196560 PMID:27378808 PMID:28492532 PMID:29472584 PMID:29915382 PMID:30340910 PMID:30619057 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD
ClinVar
PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 PMID:25741868 PMID:25744623 PMID:28492532 PMID:28711740 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM
ClinVar
PMID:10227637 PMID:12843330 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19138334 PMID:19893029 PMID:20186954 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:20947703 PMID:21368765 PMID:21700586 PMID:21812034 PMID:22213678 PMID:22934738 PMID:23182313 PMID:24033266 PMID:24088041 PMID:24108619 PMID:24130795 PMID:24745848 PMID:24800972 PMID:24847269 PMID:25164370 PMID:25174650 PMID:25326635 PMID:25326637 PMID:25660576 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26633545 PMID:26668131 PMID:27127721 PMID:27196560 PMID:27268037 PMID:27294386 PMID:27378808 PMID:27709683 PMID:27942883 PMID:28295203 PMID:28492532 PMID:28821231 PMID:29124790 PMID:29915382 PMID:30042723 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30340910 PMID:32860008, PMID:22934738 RGD:12910703 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
ClinVar Annotator: match by OMIM:610217
OMIM
ClinVar
PMID:10227637 PMID:12843330 PMID:16783378 PMID:17033970 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:20301718 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:24088041 PMID:24130795 PMID:24745848 PMID:24800972 PMID:24847269 PMID:25741868 PMID:26196026 PMID:26633545 PMID:26668131 PMID:27268037 PMID:28492532 PMID:29472584 PMID:29915382 PMID:30619057 PMID:32581362 PMID:32860008 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar Annotator: match by OMIM:606159
DNA:mutations:exon:
DNA:duplication:cds:458dupA(human)
ClinVar
OMIM
PMID:11438811 PMID:12746423 PMID:16116125 PMID:17182944 PMID:18413574 PMID:18414213 PMID:18854324 PMID:25741868 PMID:28492532, PMID:17142829, PMID:19117339, PMID:18854324 RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
ClinVar Annotator: match by OMIM:614298
OMIM
ClinVar
PMID:18414213 PMID:20039086 PMID:21981780 PMID:22508347 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:25592411 PMID:25741868 PMID:26187298 PMID:26539891 PMID:27112773 PMID:28347615 PMID:28492532 PMID:28641177 PMID:29295770 PMID:29389947 PMID:30088953 PMID:30392167 PMID:31087512 PMID:32581362 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration
ClinVar Annotator: match by OMIM:300894
OMIM
ClinVar
PMID:20562859 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24847269 PMID:24896178 PMID:25263061 PMID:25326635 PMID:25356899 PMID:25592411 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26173968 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29981852 PMID:30311386 PMID:30612247 PMID:30713893 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
ClinVar Annotator: match by OMIM:615643
OMIM
ClinVar
PMID:24360804 PMID:25741868 PMID:28489334 PMID:28492532 NCBI chr10:88,992,413...88,996,677
Ensembl chr10:88,992,487...88,996,676
JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 ClinVar
OMIM
PMID:25741868 PMID:29395073 NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347
JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 OMIM
ClinVar
PMID:25741868 PMID:29395073 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by OMIM:234200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301187 PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:12811783 PMID:14580665 PMID:14638969 PMID:15465096 PMID:15565311 PMID:15659606 PMID:15834858 PMID:15843062 PMID:15911822 PMID:16023068 PMID:16240131 PMID:16272150 PMID:16437574 PMID:16450344 PMID:17903678 PMID:19224615 PMID:20193558 PMID:20603201 PMID:20629144 PMID:21198414 PMID:21459825 PMID:21480873 PMID:22103354 PMID:22127788 PMID:22221393 PMID:22416811 PMID:22682757 PMID:23634310 PMID:23757202 PMID:23968566 PMID:24033266 PMID:24075960 PMID:24209433 PMID:24215330 PMID:24348190 PMID:24712887 PMID:25741868 PMID:25802776 PMID:25915509 PMID:26087139 PMID:26467025 PMID:26795593 PMID:26828213 PMID:27185474 PMID:28094106 PMID:28357202 PMID:28492532 PMID:28708303 PMID:28781879 PMID:28821231 PMID:28845923 PMID:28881514 PMID:29590070 PMID:30311386 PMID:30681573 PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:26805781 PMID:26805782 PMID:27711071 PMID:29369572 PMID:30245509 PMID:32576985 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
Schindler Disease, Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2
ClinVar Annotator: match by term: SCHINDLER DISEASE, TYPE II
ClinVar Annotator: match by term: Schindler disease, type 1
ClinVar Annotator: match by OMIM:609242
ClinVar Annotator: match by OMIM:609241
ClinVar Annotator: match by term: NAGA DEFICIENCY, TYPE I
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1131374 PMID:2243144 PMID:2372288 PMID:2564952 PMID:7707696 PMID:8040340 PMID:8071745 PMID:8782044 PMID:11251574 PMID:11313741 PMID:14685826 PMID:15619430 PMID:17171432 PMID:18414213 PMID:19683538 PMID:24033266 PMID:25741868 PMID:27138754 PMID:28492532 PMID:29431110 PMID:30487145 PMID:32860008 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Schindler disease, type 1 ClinVar NCBI chr 7:123,531,657...123,548,574
Ensembl chr 7:123,531,682...123,548,081
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            cerebral degeneration 278
              neuroaxonal dystrophy 32
                CSF1R-related brain malformation and osteopetrosis 0
                Hunter Carpenter Macdonald Syndrome 0
                Karak Syndrome 1
                Maccario Mena Weir Syndrome 0
                Osteopetrosis and Infantile Neuroaxonal Dystrophy 0
                Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 1
                Schindler Disease, Type I 2
                cerebral folate receptor alpha deficiency 10
                neurodegeneration with brain iron accumulation + 14
paths to the root