MCID: CRB042
MIFTS: 62

Cerebellar Ataxia malady

Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases, Rare diseases categories
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Summaries for Cerebellar Ataxia

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Wikipedia:65 Cerebellar ataxia is a form of ataxia originating in the cerebellum. more...

MalaCards based summary: Cerebellar Ataxia, also known as hereditary ceruloplasmin deficiency, is related to spinocerebellar ataxia type 7 and spinocerebellar ataxia, and has symptoms including retinopathy, pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria and diabetes mellitus. An important gene associated with Cerebellar Ataxia is CP (ceruloplasmin (ferroxidase)), and among its related pathways is Selected targets of Oct 3 4. The compounds glutamine and hypoxanthine have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and eye, and related mouse phenotypes are pigmentation and no phenotypic analysis.

Description from OMIM:46 604290

Aliases & Classifications for Cerebellar Ataxia

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Cerebellar Ataxia, Aliases & Descriptions:

Name: Cerebellar Ataxia 30 8 9 46 10
Hereditary Ceruloplasmin Deficiency 48 62
 
Aceruloplasminemia 48 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary ceruloplasmin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Elderly


External Ids:

Disease Ontology8 DOID:0050753
OMIM46 604290
MESH via Orphanet35 C536004
ICD10 via Orphanet26 G23.0

Related Diseases for Cerebellar Ataxia

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Diseases in the Cerebellar Ataxia family:

Hereditary Cerebellar Ataxia Syndrome of Early Onset

Diseases related to Cerebellar Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 294)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia type 731.2ATXN2
2spinocerebellar ataxia31.1ATN1, ATXN2
3dementia31.1CP
4machado-joseph disease30.9ATXN2, ATN1
5apraxia30.8NPHP1, ATCAY
6cerebellar degeneration30.6ATXN2
7dentatorubral-pallidoluysian atrophy30.2ATXN2, ATN1
8retinal degeneration30.1PAX6, CP, NPHP1
9friedreich ataxia30.0ATXN2, SACS
10schizophrenia29.4PAX6, ATN1, CP, DNMT1
11ataxia11.4
12aceruloplasminemia11.0
13neuropathy10.7
14hypogonadism10.6
15mental retardation10.6
16gillespie syndrome10.5
17hemosiderosis10.5
18myoclonus10.5
19spasticity10.5
20aniridia10.5
21neuronitis10.5
22harding ataxia10.5
23autosomal recessive cerebellar ataxia type 110.5
24malaria10.4
25olivopontocerebellar atrophy10.4
26renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
27cataract10.4
28multiple system atrophy10.4
29migraine10.4
30retinitis10.4
31cerebellar ataxia and hypogonadotropic hypogonadism10.4
32cerebellar ataxia ectodermal dysplasia10.4
33hemiplegic migraine10.4
34renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna10.4
35tremor10.4
36dystonia10.4
37myoclonus cerebellar ataxia deafness10.4
38aniridia, cerebellar ataxia, and mental retardation10.4
39parkinson's disease10.3
40stiff-person syndrome10.3
41familial hemiplegic migraine10.3
42encephalitis10.3
43peripheral neuropathy10.3
44cerebellar ataxia, nonprogressive, with mental retardation10.3
45spinocerebellar ataxia, autosomal recessive 1310.3
46cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.3
47ataxia telangiectasia10.3
48celiac disease10.3
49hypogonadotropism10.3
50narcolepsy10.3

Graphical network of the top 20 diseases related to Cerebellar Ataxia:



Diseases related to cerebellar ataxia

Symptoms for Cerebellar Ataxia

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Symptoms by clinical synopsis from OMIM:

604290

Clinical features from OMIM:

604290

Symptoms:

48 (show all 20)
  • retinopathy
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes mellitus
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • anaemia
  • hyperferritinemia/iron overload
  • autosomal recessive inheritance
  • ataxia/incoordination/trouble of the equilibrium
  • dystonia/torticollis/writer's cramp/blepharospasms
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • hypertonia/spasticity/rigidity/stiffness
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • heart/cardiac failure
  • hypothyroidy
  • elocution disorders/dysarthria/dysphonia
  • troubles of memory/amnesia/hypermnesia

HPO human phenotypes related to Cerebellar Ataxia:

(show all 31)
id Description Frequency HPO Source Accession
1 retinopathy hallmark (90%) HP:0000488
2 diabetes mellitus hallmark (90%) HP:0000819
3 tremor hallmark (90%) HP:0001337
4 anemia hallmark (90%) HP:0001903
5 chorea hallmark (90%) HP:0002072
6 abnormality of iron homeostasis hallmark (90%) HP:0011031
7 abnormal renal physiology hallmark (90%) HP:0012211
8 behavioral abnormality typical (50%) HP:0000708
9 hypertonia typical (50%) HP:0001276
10 neurological speech impairment typical (50%) HP:0002167
11 incoordination typical (50%) HP:0002311
12 developmental regression typical (50%) HP:0002376
13 hypothyroidism occasional (7.5%) HP:0000821
14 congestive heart failure occasional (7.5%) HP:0001635
15 neurological speech impairment occasional (7.5%) HP:0002167
16 memory impairment occasional (7.5%) HP:0002354
17 autosomal recessive inheritance HP:0000007
18 torticollis HP:0000473
19 retinal degeneration HP:0000546
20 blepharospasm HP:0000643
21 dementia HP:0000726
22 diabetes mellitus HP:0000819
23 ataxia HP:0001251
24 dysarthria HP:0001260
25 anemia HP:0001903
26 abnormality of extrapyramidal motor function HP:0002071
27 chorea HP:0002072
28 scanning speech HP:0002168
29 cogwheel rigidity HP:0002396
30 increased serum ferritin HP:0003281
31 adult onset HP:0003581

Drugs & Therapeutics for Cerebellar Ataxia

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Drug clinical trials:

Search ClinicalTrials for Cerebellar Ataxia

Search NIH Clinical Center for Cerebellar Ataxia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Cerebellar Ataxia cell therapies at LifeMap Discovery.

Genetic Tests for Cerebellar Ataxia

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Anatomical Context for Cerebellar Ataxia

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MalaCards organs/tissues related to Cerebellar Ataxia:

32
Cerebellum, Brain, Eye, Testes, Heart, Liver, Skin, T cells, Thymus, Cortex, Retina, Lung, Thyroid, Breast, Endothelial, Neutrophil

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Cerebellar Ataxia:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Cerebellar Ataxia or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Ataxia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8PAX6, DNMT1, CP
2MP:00030128.6DNMT1, ATN1, NPHP1, SYNE1
3MP:00053798.2ATXN2, NPHP1, PAX6, ATN1, ATCAY
4MP:00053897.8NPHP1, PAX6, DNMT1, ATN1, ATXN2, ATCAY
5MP:00036317.7SYNE1, PAX6, CP, ATN1, ATXN2, ATCAY
6MP:00053787.1ATCAY, ATXN2, ATN1, PAX6, DNMT1, SYNE1
7MP:00053867.0DNMT1, ATCAY, ATXN2, ATN1, CP, PAX6

Publications for Cerebellar Ataxia

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Articles related to Cerebellar Ataxia:

(show top 50)    (show all 620)
idTitleAuthorsYear
1
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. (24719489)
2014
2
Neuroprotective Role of Liver Growth Factor "LGF" in an Experimental Model of Cerebellar Ataxia. (25338046)
2014
3
Drug-Induced Cerebellar Ataxia: A Systematic Review. (25391707)
2014
4
Acute cerebellar ataxia following meningococcal group C conjugate vaccination. (23275434)
2014
5
Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male. (25149939)
2014
6
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. (23857099)
2013
7
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. (23941260)
2013
8
Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI. (22595899)
2013
9
Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. (21997342)
2012
10
Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2. (21091821)
2012
11
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia. (21984193)
2012
12
"Hot cross bun" sign in multiple system atrophy with predominant cerebellar ataxia: a comparison between proton density-weighted imaging and T2-weighted imaging. (22209432)
2012
13
Cerebellar ataxia: pathophysiology and rehabilitation. (21321055)
2011
14
An unusual case of familial ALS and cerebellar ataxia. (20540686)
2010
15
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. (20580948)
2010
16
Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers. (20147839)
2010
17
Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies. (19448100)
2009
18
Immunological reactivity against neuronal and non-neuronal antigens in sporadic adult-onset cerebellar ataxia. (19786780)
2009
19
Postural instability in cerebellar ataxia: correlations of knee, arm and trunk movements to center of mass velocity. (19136042)
2009
20
The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice. (18602413)
2008
21
Acute cerebellar ataxia associated with primary human herpesvirus-6 infection: a report of two cases. (19012639)
2008
22
Late cerebellar ataxia associated with fragile X premutation]. (18808779)
2008
23
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. (18465152)
2008
24
Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. (18678379)
2008
25
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. (17503513)
2007
26
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. (16961073)
2006
27
Improvement with corticosteroids and azathioprine in GAD65-associated cerebellar ataxia. (17030779)
2006
28
A case report of plasmapheresis in paraneoplastic cerebellar ataxia associated with anti-Tr antibody. (16556143)
2006
29
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. (16677673)
2006
30
CSF analysis differentiates multiple-system atrophy from idiopathic late-onset cerebellar ataxia. (16894110)
2006
31
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. (16251216)
2006
32
New autosomal recessive cerebellar ataxias with oculomotor apraxia. (16131425)
2005
33
Familial positional downbeat nystagmus and cerebellar ataxia: clinical and pathologic findings. (15827018)
2005
34
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. (15455264)
2004
35
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). (14985396)
2004
36
Pure cerebello-olivary degeneration of Marie, Foix, and Alajouanine presenting with progressive cerebellar ataxia, cognitive decline, and chorea. (14673899)
2003
37
Ocular motility in genetically defined autosomal dominant cerebellar ataxia. (11992880)
2002
38
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
39
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. (11198281)
2001
40
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. (11843825)
2001
41
Amantadine treatment in cerebellar ataxia. (11291986)
2001
42
Mutant mice as a model for cerebellar ataxia. (11164620)
2001
43
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. (10751248)
2000
44
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. (10700168)
2000
45
Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. (9507387)
1998
46
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. (9311738)
1997
47
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I. (8522329)
1995
48
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. (8032856)
1994
49
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. (7952360)
1993
50
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. (1008585)
1976

Variations for Cerebellar Ataxia

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Clinvar genetic disease variations for Cerebellar Ataxia:

6 (show all 42)
id Gene Name Type Significance SNP ID Assembly Location
1CPNM_000096.3(CP): c.3019-1G> Asingle nucleotide variantPathogenicrs386134142GRCh37Chr 3, 148894200: 148894200
2CPNM_000096.3(CP): c.2389delG (p.Glu797Argfs)deletionPathogenicrs386134149GRCh37Chr 3, 148901289: 148901289
3CPNM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs)insertionPathogenicrs386134145GRCh37Chr 3, 148919950: 148919951
4CPNM_000096.3(CP): c.2630G> A (p.Trp877Ter)single nucleotide variantPathogenicrs121909579GRCh37Chr 3, 148897374: 148897374
5CPNM_000096.3(CP): c.606dupA (p.Asp203Argfs)duplicationPathogenicrs386134143GRCh37Chr 3, 148927955: 148927955
6CPNM_000096.3(CP): c.1049C> A (p.Ala350Asp)single nucleotide variantPathogenicrs386134127GRCh37Chr 3, 148924114: 148924114
7CPNM_000096.3(CP): c.229G> C (p.Asp77His)single nucleotide variantPathogenicrs200683433GRCh37Chr 3, 148930403: 148930403
8CPNM_000096.3(CP): c.650T> C (p.Phe217Ser)single nucleotide variantPathogenicrs386134125GRCh37Chr 3, 148927129: 148927129
9CPNM_000096.3(CP): c.1874G> A (p.Gly625Glu)single nucleotide variantPathogenicrs386134129GRCh37Chr 3, 148904510: 148904510
10CPNM_000096.3(CP): c.2675G> A (p.Gly892Glu)single nucleotide variantPathogenicrs386134131GRCh37Chr 3, 148896405: 148896405
11CPNM_000096.3(CP): c.2684G> C (p.Gly895Ala)single nucleotide variantPathogenicrs139633388GRCh37Chr 3, 148896396: 148896396
12CPNM_000096.3(CP): c.2962G> A (p.Gly988Ser)single nucleotide variantPathogenicrs386134133GRCh37Chr 3, 148895683: 148895683
13CPNM_000096.3(CP): c.548T> C (p.Ile183Thr)single nucleotide variantPathogenicrs386134123GRCh37Chr 3, 148928013: 148928013
14CPNM_000096.3(CP): c.82A> T (p.Ile28Phe)single nucleotide variantPathogenicrs386134121GRCh37Chr 3, 148939498: 148939498
15CPNM_000096.3(CP): c.2953A> G (p.Met985Val)single nucleotide variantPathogenicrs386134132GRCh37Chr 3, 148895692: 148895692
16CPNM_000096.3(CP): c.587C> G (p.Pro196Arg)single nucleotide variantPathogenicrs386134124GRCh37Chr 3, 148927974: 148927974
17CPNM_000096.3(CP): c.493C> G (p.Gln165Glu)single nucleotide variantPathogenicrs386134122GRCh37Chr 3, 148928068: 148928068
18CPNM_000096.3(CP): c.2131C> A (p.Gln711Lys)single nucleotide variantPathogenicrs386134130GRCh37Chr 3, 148903180: 148903180
19CPNM_000096.3(CP): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs386134155GRCh37Chr 3, 148927136: 148927136
20CPNM_000096.3(CP): c.2158C> T (p.Arg720Trp)single nucleotide variantPathogenicrs145784949GRCh37Chr 3, 148903153: 148903153
21CPNM_000096.3(CP): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs386134156GRCh37Chr 3, 148896379: 148896379
22CPNM_000096.3(CP): c.1652C> T (p.Thr551Ile)single nucleotide variantPathogenicrs61733458GRCh37Chr 3, 148916215: 148916215
23CPNM_000096.3(CP): c.848G> C (p.Trp283Ser)single nucleotide variantPathogenicrs386134126GRCh37Chr 3, 148925338: 148925338
24CPNM_000096.3(CP): c.1123T> C (p.Tyr375His)single nucleotide variantPathogenicrs386134128GRCh37Chr 3, 148924040: 148924040
25CPNM_000096.3(CP): c.1209-2A> Gsingle nucleotide variantPathogenicrs386134137GRCh37Chr 3, 148920030: 148920030
26CPNM_000096.3(CP): c.1209_1210dupTG (p.Asp404Valfs)duplicationPathogenicrs386134138GRCh37Chr 3, 148920026: 148920027
27CPNM_000096.3(CP): c.1257_1258delTT (p.Tyr420Terfs)deletionPathogenicrs386134144GRCh37Chr 3, 148919979: 148919980
28CPNM_000096.3(CP): c.146+1G> Asingle nucleotide variantPathogenicrs386134134GRCh37Chr 3, 148939433: 148939433
29CPNM_000096.3(CP): c.1865-1G> Asingle nucleotide variantPathogenicrs386134139GRCh37Chr 3, 148904520: 148904520
30CPNM_000096.3(CP): c.1918delG (p.Asp640Ilefs)deletionPathogenicrs386134146GRCh37Chr 3, 148904466: 148904466
31CPNM_000096.3(CP): c.2065delC (p.Pro689Leufs)deletionPathogenicrs386134147GRCh37Chr 3, 148904319: 148904319
32CPNM_000096.3(CP): c.2068delG (p.Asp690Thrfs)deletionPathogenicrs386134148GRCh37Chr 3, 148904316: 148904316
33CPNM_000096.3: p.Leu729Trpfs*40deletionPathogenic
34CPNM_000096.3(CP): c.2482delG (p.Ala828Profs)deletionPathogenicrs386134150GRCh37Chr 3, 148899864: 148899864
35CPNM_000096.3(CP): c.2511dupT (p.Gly838Trpfs)duplicationPathogenicrs386134151GRCh37Chr 3, 148899835: 148899836
36CPNM_000096.3(CP): c.2554+1G> Tsingle nucleotide variantPathogenicrs386134140GRCh37Chr 3, 148899791: 148899791
37CPNM_000096.3(CP): c.2602delG (p.Gly868Glufs)deletionPathogenicrs386134152GRCh37Chr 3, 148897402: 148897402
38CPNM_000096.3(CP): c.2689_2690delCT (p.Leu897Aspfs)deletionPathogenicrs386134153GRCh37Chr 3, 148896390: 148896391
39CPNM_000096.3(CP): c.2879-1G> Asingle nucleotide variantPathogenicrs386134141GRCh37Chr 3, 148895767: 148895767
40CPNM_000096.3(CP): c.2917dupA (p.Thr973Asnfs)duplicationPathogenicrs386134154GRCh37Chr 3, 148895727: 148895728
41CPNM_000096.3(CP): c.395-1G> Asingle nucleotide variantPathogenicrs386134135GRCh37Chr 3, 148928167: 148928167
42CPNM_000096.3(CP): c.607+1G> Asingle nucleotide variantPathogenicrs386134136GRCh37Chr 3, 148927953: 148927953

Expression for genes affiliated with Cerebellar Ataxia

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Expression patterns in normal tissues for genes affiliated with Cerebellar Ataxia

Search GEO for disease gene expression data for Cerebellar Ataxia.

Pathways for genes affiliated with Cerebellar Ataxia

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Pathways related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3DNMT1, PAX6

Compounds for genes affiliated with Cerebellar Ataxia

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamine449.4CP, ATN1, ATXN2
2hypoxanthine44 24 1111.3DNMT1, CP
3glutamate448.6SYNE1, DNMT1, PAX6, CP

GO Terms for genes affiliated with Cerebellar Ataxia

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Cellular components related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057376.7NPHP1, CA8, SYNE1, SACS, PAX6, ATN1

Biological processes related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082198.9SYNE1, SACS, ATXN2, ATP2B3

Molecular functions related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:0510879.8SACS, CP

Products for genes affiliated with Cerebellar Ataxia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cerebellar Ataxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet