MCID: PST027
MIFTS: 45

Postencephalitic Parkinson Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Postencephalitic Parkinson Disease

MalaCards integrated aliases for Postencephalitic Parkinson Disease:

Name: Postencephalitic Parkinson Disease 12 15 17
Postencephalitic Parkinsonism 12 58 54 32
Parkinson Disease, Postencephalitic 44 70

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Postencephalitic Parkinson Disease

MalaCards based summary : Postencephalitic Parkinson Disease, also known as postencephalitic parkinsonism, is related to parkinsonism and von economo's disease. An important gene associated with Postencephalitic Parkinson Disease is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. Affiliated tissues include eye, cortex and skin, and related phenotypes are resting tremor and fever

Wikipedia : 73 Post-encephalitic Parkinsonism is a disease believed to be caused by a viral illness that triggers... more...

Related Diseases for Postencephalitic Parkinson Disease

Diseases related to Postencephalitic Parkinson Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 parkinsonism 31.2 SNCA SLC6A3 PARK7 MAPT LRRK2
2 von economo's disease 31.0 SNCA LRRK2 IGLON5
3 tremor 30.5 SNCA PRKN LRRK2
4 striatonigral degeneration 30.1 SNCA SLC6A3
5 creutzfeldt-jakob disease 30.0 SNCA PARK7 MAPT
6 olivopontocerebellar atrophy 30.0 TH SNCA SLC6A3 MAPT
7 early-onset parkinson's disease 29.7 TH SNCA PRKN PARK7 LRRK2
8 dystonia 29.4 TH SLC6A3 PRKN PARK7 MAOB LRRK2
9 multiple system atrophy 1 29.3 TH SNCA SLC6A3 PRKN MAPT MAOB
10 alzheimer disease 29.2 TARDBP SNCA PRKN PARK7 MAPT MAOB
11 supranuclear palsy, progressive, 1 28.9 TH TARDBP SNCA SLC6A3 PRKN PARK7
12 movement disease 27.9 TH TARDBP SNCA SLC6A3 PRKN PARK7
13 parkinson disease, late-onset 27.9 TH SNCA SLC6A3 PRKN PARK7 MAPT
14 encephalitis 10.5
15 chromosome 17q21.31 duplication syndrome 10.3 SNCA MAPT
16 coenzyme q10 deficiency, primary, 1 10.3 SNCA MAPT
17 radial nerve lesion 10.3 PRKN LRRK2
18 alzheimer disease 8 10.3 PARK7 LRRK2
19 parkinson disease 21 10.3 PRKN LRRK2
20 juvenile-onset parkinson's disease 10.3 SNCA PRKN
21 alzheimer disease 9 10.3 SNCA MAPT
22 ulnar nerve lesion 10.2 PRKN LRRK2
23 neuronal intranuclear inclusion disease 10.2 SNCA MAPT
24 amphetamine abuse 10.2 TH SLC6A3
25 gerstmann-straussler disease 10.2 SNCA MAPT LRRK2
26 leukoencephalopathy, hereditary diffuse, with spheroids 10.2 SNCA PRKN MAPT
27 communicating hydrocephalus 10.2 SNCA SLC6A3 MAPT
28 kleine-levin hibernation syndrome 10.2 SLC6A3 IGLON5
29 recurrent hypersomnia 10.2 SLC6A3 IGLON5
30 sphingolipidosis 10.2 SNCA PRKN LRRK2
31 parkinson disease 17 10.2 SNCA PARK7
32 delusional disorder 10.2 TH SLC6A3
33 oculogyric crisis 10.1
34 viral encephalitis 10.1
35 corticobasal degeneration 10.1
36 associative agnosia 10.1 TARDBP MAPT
37 cerebellar disease 10.1 SNCA PRKN MAPT
38 cocaine abuse 10.1 SNCA SLC6A3 MAOB
39 simultanagnosia 10.1 TARDBP MAPT
40 nominal aphasia 10.1 TARDBP MAPT
41 paroxysmal dystonia 10.1 TH SLC6A3
42 alexia 10.1 TARDBP MAPT
43 pica disease 10.1 TARDBP MAPT
44 impulse control disorder 10.1 SLC6A3 MAOB
45 agraphia 10.1 TARDBP MAPT
46 parkinson disease 4, autosomal dominant 10.1 TH SNCA SLC6A3
47 semantic dementia 10.1 TARDBP MAPT
48 prosopagnosia 10.1 TARDBP MAPT
49 neurodegeneration with brain iron accumulation 10.1 SNCA PRKN PARK7
50 dysgraphia 10.1 TARDBP MAPT

Graphical network of the top 20 diseases related to Postencephalitic Parkinson Disease:



Diseases related to Postencephalitic Parkinson Disease

Symptoms & Phenotypes for Postencephalitic Parkinson Disease

Human phenotypes related to Postencephalitic Parkinson Disease:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 resting tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002322
2 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
3 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
4 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
5 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
6 cogwheel rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002396
7 drowsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002329
8 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
9 oculogyric crisis 58 31 frequent (33%) Frequent (79-30%) HP:0010553
10 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
11 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
12 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
13 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
14 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
15 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
16 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
17 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
18 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
19 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
20 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
21 auditory hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0008765
22 akinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002304
23 abnormal aggressive, impulsive or violent behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0006919
24 slow saccadic eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0000514
25 bilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001488
26 happy demeanor 58 31 occasional (7.5%) Occasional (29-5%) HP:0040082
27 upgaze palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0025331
28 tremor by anatomical site 58 31 occasional (7.5%) Occasional (29-5%) HP:0030188
29 fixed facial expression 58 31 occasional (7.5%) Occasional (29-5%) HP:0005329
30 abnormal csf protein level 58 31 occasional (7.5%) Occasional (29-5%) HP:0025456
31 camptocormia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100595
32 csf lymphocytic pleiocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0200149
33 seizure 31 occasional (7.5%) HP:0001250
34 abnormal substantia nigra morphology 31 occasional (7.5%) HP:0045007
35 seizures 58 Occasional (29-5%)
36 abnormal pyramidal sign 58 Frequent (79-30%)
37 abnormality of eye movement 58 Occasional (29-5%)
38 involuntary movements 58 Frequent (79-30%)
39 rigidity 58 Occasional (29-5%)
40 abnormality of higher mental function 58 Occasional (29-5%)
41 functional respiratory abnormality 58 Occasional (29-5%)
42 diminished movement 58 Occasional (29-5%)
43 abnormality of the substantia nigra 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Postencephalitic Parkinson Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 CCDC62 DDC GAK LRRK2 MAOB MAPT
2 behavior/neurological MP:0005386 10.17 DDC GAK LRRK2 MAOB MAPT PARK7
3 homeostasis/metabolism MP:0005376 10.11 DDC GAK LRRK2 MAOB MAPT PARK7
4 nervous system MP:0003631 10 DDC GAK LRRK2 MAOB MAPT PARK7
5 integument MP:0010771 9.87 GAK LRRK2 MAPT PRKN SLC6A3 SNCA
6 no phenotypic analysis MP:0003012 9.63 LRRK2 MAPT PRKN SNCA TARDBP TH
7 normal MP:0002873 9.5 GAK LRRK2 MAPT PRKN SLC6A3 SNCA
8 renal/urinary system MP:0005367 9.1 DDC LRRK2 MAOB MAPT SNCA TH

Drugs & Therapeutics for Postencephalitic Parkinson Disease

Search Clinical Trials , NIH Clinical Center for Postencephalitic Parkinson Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Scopolamine
Scopolamine Hydrobromide

Cochrane evidence based reviews: parkinson disease, postencephalitic

Genetic Tests for Postencephalitic Parkinson Disease

Anatomical Context for Postencephalitic Parkinson Disease

MalaCards organs/tissues related to Postencephalitic Parkinson Disease:

40
Eye, Cortex, Skin

Publications for Postencephalitic Parkinson Disease

Articles related to Postencephalitic Parkinson Disease:

(show top 50) (show all 157)
# Title Authors PMID Year
1
Phosphorylated serine422 on tau proteins is a pathological epitope found in several diseases with neurofibrillary degeneration. 54 61
10090668 1999
2
Pathological tau proteins in postencephalitic parkinsonism: comparison with Alzheimer's disease and other neurodegenerative disorders. 54 61
9307257 1997
3
The first psychiatric pandemic: Encephalitis lethargica, 1917-27. 61
33268001 2021
4
Centenary of Tretiakoff's thesis on the morphology of Parkinson's disease, evolved on the grounds of encephalitis lethargica pathology. 61
31226240 2019
5
The centennial lesson of encephalitis lethargica. 61
29555881 2018
6
Von Economo's disease and postencephalitic parkinsonism responsive to carbidopa and levodopa. 61
29670352 2018
7
Powassan virus postencephalitic parkinsonism. 61
29431163 2017
8
Olfactory vector hypothesis for encephalitis lethargica. 61
28571798 2017
9
Oculogyric crises: Etiology, pathophysiology and therapeutic approaches. 61
27964831 2017
10
Psychosis in parkinsonism: an unorthodox approach. 61
28553118 2017
11
Russell Meyers (1905-1999): pioneer of functional and ultrasonic neurosurgery. 61
26871378 2016
12
Poster 319 Response of Postencephalitic Parkinsonism to Various Dopaminergic Agonists: A Case Report. 61
27673072 2016
13
Enteroviral Postencephalitic Parkinsonism With Evidence of Impaired Presynaptic Dopaminergic Function. 61
27367905 2016
14
Postencephalitic parkinsonism responsive to a dopamine agonist: A case report. 61
25899543 2015
15
Postencephalitic parkinsonism and selective involvement of substantia nigra. 61
25577509 2015
16
Postencephalitic parkinsonism and selective involvement of substantia nigra in childhood. 61
24745788 2015
17
The medical treatment of Parkinson disease from James Parkinson to George Cotzias. 61
25491387 2015
18
Postencephalitic parkinsonism: interesting clinico-imaging correlation. 61
24993469 2014
19
Parkinson's disease presenting with oculogyric crisis in the off period. 61
24694499 2014
20
Centenary of Lewy bodies (1912-2012). 61
23456291 2013
21
Etiologies of Parkinsonism in a century-long autopsy-based cohort. 61
22702335 2013
22
The Demise of Poskanzer and Schwab's Influenza Theory on the Pathogenesis of Parkinson's Disease. 61
23853734 2013
23
Association of Parkinson's disease with infections and occupational exposure to possible vectors. 61
22753266 2012
24
Effect of deep brain stimulation on postencephalitic parkinsonism: a case report. 61
22555963 2012
25
The Wilson films--post encephalitic Parkinsonism. 61
22170267 2011
26
A film of patients with movement disorders made in Queen Square, London in the Mid-1920s by Samuel Alexander Kinnier Wilson. 61
21370261 2011
27
Postencephalitic parkinsonism and basal ganglia necrosis due to Epstein-Barr virus infection. 61
21519006 2011
28
The diagnosis of postencephalitic parkinsonism at the neurological unit of Boston City Hospital, 1930-1981. 61
21327402 2011
29
Does the historical literature on encephalitis lethargica support a simple (direct) relationship with postencephalitic Parkinsonism? 61
20629127 2010
30
A historical analysis of the relationship between encephalitis lethargica and postencephalitic parkinsonism: a complex rather than a direct relationship. 61
20629120 2010
31
Rosenow's rabbits and postencephalitic parkinsonism. 61
19822874 2009
32
Absence of alpha-synuclein pathology in postencephalitic parkinsonism. 61
19404653 2009
33
Constantin von Economo's contribution to the understanding of movement disorders. 61
17290463 2007
34
West Nile virus encephalomyelitis with polio-like paralysis & nigral degeneration. 61
17168167 2006
35
Topographic study of Alzheimer's neurofibrillary changes: a personal perspective. 61
16914844 2006
36
Movement disorders associated with encephalitis lethargica: a video compilation. 61
16200538 2006
37
Progressive supranuclear palsy: new disease or variant of postencephalitic parkinsonism? 61
15022178 2004
38
Parkinson's syndrome associated with neurofibrillary degeneration and tau pathologic findings. 61
14502653 2003
39
Dementia with Lewy bodies and the neurobehavioral decline of Mervyn Peake. 61
12810496 2003
40
Unexplained sudden amnesia, postencephalitic Parkinson disease, subacute sclerosing panencephalitis, and Alzheimer disease: does viral synergy produce neurofibrillary tangles? 61
12707087 2003
41
A fatal case of coxsackievirus B4 meningoencephalitis. 61
12533096 2003
42
Friedrich Heinrich Lewy (1885-1950) and his work. 61
12012571 2002
43
von Economo encephalitis. 61
11594935 2001
44
An autopsy case of postencephalitic parkinsonism of von Economo type: some new observations concerning neurofibrillary tangles and astrocytic tangles. 61
10935451 2000
45
FDG- and Dopa-PET in postencephalitic parkinsonism. 61
11145004 2000
46
Neuropsychiatry of Huntington's disease and other basal ganglia disorders. 61
10665265 2000
47
Parkinsonism, dementia and vertical gaze palsy in a Guamanian with atypical neuroglial degeneration. 61
10651031 2000
48
[Habitual mandibular dislocation in two patients with Parkinson's disease]. 61
10586632 1999
49
Adolf Hitler's Parkinson's disease and an attempt to analyse his personality structure. 61
10053222 1999
50
[Postencephalitic parkinsonism]. 61
10434584 1999

Variations for Postencephalitic Parkinson Disease

Expression for Postencephalitic Parkinson Disease

Search GEO for disease gene expression data for Postencephalitic Parkinson Disease.

Pathways for Postencephalitic Parkinson Disease

Pathways related to Postencephalitic Parkinson Disease according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 TARDBP SNCA SLC6A3 PRKN PARK7 MAPT
2
Show member pathways
12.58 TH SNCA SLC6A3 PRKN PARK7 MAPT
3
Show member pathways
12.51 TH SLC6A3 MAOB DDC
4
Show member pathways
12.43 SNCA SLC6A3 PRKN PARK7
5 12.29 TH TARDBP SNCA PRKN PARK7 MAPT
6
Show member pathways
11.78 TH SLC6A3 MAOB DDC
7
Show member pathways
11.56 TH MAOB DDC
8 11.42 TH SNCA SLC6A3 PRKN PARK7 LRRK2
9 11.09 TH SLC6A3 DDC
10
Show member pathways
10.91 TH SLC6A3 MAOB
11
Show member pathways
10.85 TH DDC
12 10.64 TH MAOB DDC
13 10.61 TH SNCA SLC6A3 PRKN PARK7 MAOB
14 10.57 TH DDC

GO Terms for Postencephalitic Parkinson Disease

Cellular components related to Postencephalitic Parkinson Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 TH TARDBP SNCA SLC6A3 PRKN PARK7
2 mitochondrion GO:0005739 9.95 TH SNCA PRKN PARK7 MAPT MAOB
3 perinuclear region of cytoplasm GO:0048471 9.85 TH SNCA PRKN PARK7 GAK
4 membrane raft GO:0045121 9.73 SLC6A3 PARK7 MAPT LRRK2
5 growth cone GO:0030426 9.67 SNCA MAPT LRRK2
6 neuron projection GO:0043005 9.63 TH SLC6A3 PRKN PARK7 MAPT LRRK2
7 presynapse GO:0098793 9.62 SNCA PRKN PARK7 GAK
8 synaptic vesicle GO:0008021 9.56 TH SNCA LRRK2 DDC
9 terminal bouton GO:0043195 9.54 TH SNCA LRRK2
10 inclusion body GO:0016234 9.48 SNCA LRRK2
11 neuronal cell body GO:0043025 9.43 TH SNCA SLC6A3 MAPT LRRK2 DDC
12 axon GO:0030424 9.17 TH SNCA SLC6A3 PARK7 MAPT LRRK2

Biological processes related to Postencephalitic Parkinson Disease according to GeneCards Suite gene sharing:

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.95 TARDBP PRKN PARK7 MAPT
2 response to drug GO:0042493 9.94 TH SNCA SLC6A3 MAOB
3 response to lipopolysaccharide GO:0032496 9.87 TH SNCA MAOB
4 negative regulation of neuron apoptotic process GO:0043524 9.86 SNCA PRKN PARK7
5 response to ethanol GO:0045471 9.85 TH SLC6A3 MAOB
6 cellular response to oxidative stress GO:0034599 9.83 SNCA PARK7 LRRK2
7 mitochondrion organization GO:0007005 9.82 PRKN PARK7 LRRK2
8 regulation of protein stability GO:0031647 9.81 TARDBP PRKN LRRK2
9 locomotory behavior GO:0007626 9.8 TH SLC6A3 PRKN
10 regulation of autophagy GO:0010506 9.76 PRKN MAPT LRRK2
11 adult locomotory behavior GO:0008344 9.71 SNCA PRKN PARK7
12 microglial cell activation GO:0001774 9.7 SNCA MAPT
13 regulation of mitochondrial membrane potential GO:0051881 9.7 PRKN PARK7
14 regulation of dopamine secretion GO:0014059 9.7 SNCA PRKN
15 regulation of reactive oxygen species metabolic process GO:2000377 9.69 SNCA PRKN
16 regulation of neuron death GO:1901214 9.69 SNCA LRRK2
17 regulation of neurotransmitter secretion GO:0046928 9.68 SNCA PRKN
18 response to corticosterone GO:0051412 9.68 TH MAOB
19 dopamine metabolic process GO:0042417 9.68 SNCA PRKN
20 multicellular organism aging GO:0010259 9.68 TH DDC
21 cellular response to dopamine GO:1903351 9.67 PRKN LRRK2
22 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.67 PARK7 LRRK2
23 negative regulation of neuron death GO:1901215 9.67 SNCA PRKN PARK7 LRRK2
24 neurotransmitter biosynthetic process GO:0042136 9.66 TH SLC6A3
25 supramolecular fiber organization GO:0097435 9.66 SNCA MAPT
26 negative regulation of protein phosphorylation GO:0001933 9.65 TARDBP SNCA PRKN PARK7 LRRK2
27 negative regulation of oxidative stress-induced cell death GO:1903202 9.63 PRKN PARK7
28 regulation of mitochondrial fission GO:0090140 9.62 MAPT LRRK2
29 cellular response to alkaloid GO:0071312 9.62 TH DDC
30 intracellular distribution of mitochondria GO:0048312 9.61 MAPT LRRK2
31 dopamine catabolic process GO:0042420 9.61 SLC6A3 MAOB
32 regulation of dopamine metabolic process GO:0042053 9.6 SLC6A3 PRKN
33 regulation of locomotion GO:0040012 9.59 SNCA LRRK2
34 hyaloid vascular plexus regression GO:1990384 9.58 TH SLC6A3
35 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.58 PRKN PARK7 LRRK2
36 positive regulation of autophagy of mitochondrion GO:1903599 9.57 PRKN PARK7
37 protein localization to mitochondrion GO:0070585 9.56 PRKN LRRK2
38 catecholamine biosynthetic process GO:0042423 9.55 TH DDC
39 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.52 PRKN PARK7
40 response to pyrethroid GO:0046684 9.51 TH DDC
41 cellular response to manganese ion GO:0071287 9.5 TH PRKN LRRK2
42 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.49 TH DDC
43 regulation of synaptic vesicle transport GO:1902803 9.48 PRKN LRRK2
44 isoquinoline alkaloid metabolic process GO:0033076 9.46 TH DDC
45 synaptic transmission, dopaminergic GO:0001963 9.46 TH SNCA PRKN PARK7
46 phytoalexin metabolic process GO:0052314 9.43 TH DDC
47 dopamine biosynthetic process GO:0042416 9.26 TH SNCA SLC6A3 DDC
48 dopamine uptake involved in synaptic transmission GO:0051583 8.92 SNCA SLC6A3 PRKN PARK7

Molecular functions related to Postencephalitic Parkinson Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.73 SNCA PRKN MAPT LRRK2
2 double-stranded DNA binding GO:0003690 9.63 TARDBP PARK7 MAPT
3 identical protein binding GO:0042802 9.56 TH TARDBP SNCA PRKN PARK7 MAPT
4 chaperone binding GO:0051087 9.54 PRKN MAPT GAK
5 ferrous iron binding GO:0008198 9.51 TH SNCA
6 ubiquitin-specific protease binding GO:1990381 9.49 PRKN PARK7
7 amino acid binding GO:0016597 9.48 TH DDC
8 phospholipase binding GO:0043274 9.4 SNCA PRKN
9 tubulin binding GO:0015631 9.33 PRKN MAPT LRRK2
10 cuprous ion binding GO:1903136 9.32 SNCA PARK7
11 dopamine binding GO:0035240 9.26 TH SLC6A3
12 enzyme binding GO:0019899 9.1 TH SNCA PRKN PARK7 MAPT DDC

Sources for Postencephalitic Parkinson Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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