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MCID: PRM015
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Primary Cerebellar Degeneration

Categories: Cancer diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Primary Cerebellar Degeneration

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MalaCards integrated aliases for Primary Cerebellar Degeneration:

Name: Primary Cerebellar Degeneration 12 15
Cerebellar Degenerations, Primary 70
Spinocerebellar Degenerations 44
Spinocerebellar Degeneration 70

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:9277
ICD9CM 34 334.2
MeSH 44 D013132
SNOMED-CT 67 192868000
UMLS 70 C0033132 C0037952
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Summaries for Primary Cerebellar Degeneration

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MalaCards based summary : Primary Cerebellar Degeneration, also known as cerebellar degenerations, primary, is related to autosomal dominant cerebellar ataxia and spinocerebellar degeneration, and has symptoms including ataxia, myoclonus and cerebellar ataxia. An important gene associated with Primary Cerebellar Degeneration is RBM12B (RNA Binding Motif Protein 12B). The drugs TA 0910 and Nootropic Agents have been mentioned in the context of this disorder. Affiliated tissues include cortex, cerebellum and retina.

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Related Diseases for Primary Cerebellar Degeneration

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Diseases in the Cerebellar Degeneration family:

Primary Cerebellar Degeneration Subacute Cerebellar Degeneration

Diseases related to Primary Cerebellar Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.8 GRID2 ATXN10
2 spinocerebellar degeneration 11.5
3 ataxia and polyneuropathy, adult-onset 10.6
4 multiple system atrophy 1 10.3
5 olivopontocerebellar atrophy 10.3
6 hereditary spastic paraplegia 10.3
7 ataxia-telangiectasia 10.2
8 friedreich ataxia 10.2
9 telangiectasis 10.2
10 machado-joseph disease 10.1
11 dentatorubral-pallidoluysian atrophy 10.1
12 cerebellar ataxia, early-onset, with retained tendon reflexes 10.1
13 chorea, childhood-onset, with psychomotor retardation 10.1
14 choreatic disease 10.1
15 lateral sclerosis 10.1
16 dystonia 10.1
17 paraplegia 10.1
18 neuropathy 10.1
19 pathologic nystagmus 10.1
20 spastic paraparesis 10.1
21 spasticity 10.1
22 cerebellar degeneration 10.0
23 amyotrophic lateral sclerosis 1 10.0
24 hypertrophic neuropathy of dejerine-sottas 10.0
25 roussy-levy hereditary areflexic dystasia 10.0
26 spastic paraplegia 4, autosomal dominant 10.0
27 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.0
28 ocular motor apraxia 10.0
29 fragile x tremor/ataxia syndrome 10.0
30 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.0
31 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 10.0
32 pyruvate dehydrogenase e1-beta deficiency 10.0
33 hereditary sensory neuropathy 10.0
34 fragile x-associated tremor/ataxia syndrome 10.0
35 autosomal recessive cerebellar ataxia 10.0
36 spastic ataxia 10.0
37 apraxia 10.0
38 spinocerebellar ataxia type 1 with axonal neuropathy 10.0
39 charcot-marie-tooth disease 10.0
40 tooth disease 10.0
41 clubfoot 10.0
42 dilated cardiomyopathy 10.0
43 sensory peripheral neuropathy 10.0
44 tic disorder 10.0
45 striatonigral degeneration 10.0
46 movement disease 10.0
47 peripheral nervous system disease 10.0
48 muscular atrophy 10.0
49 retinal degeneration 10.0
50 spastic paraplegia 4 10.0

Comorbidity relations with Primary Cerebellar Degeneration via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Primary Cerebellar Degeneration:



Diseases related to Primary Cerebellar Degeneration
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Symptoms & Phenotypes for Primary Cerebellar Degeneration

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UMLS symptoms related to Primary Cerebellar Degeneration:


ataxia; myoclonus; cerebellar ataxia
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Drugs & Therapeutics for Primary Cerebellar Degeneration

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Drugs for Primary Cerebellar Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 TA 0910 Phase 4
2 Nootropic Agents Phase 4
3
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
4
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
5
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
6 Neurotransmitter Agents Phase 3
7 Excitatory Amino Acid Antagonists Phase 2, Phase 3
8 Neuroprotective Agents Phase 2, Phase 3
9 Anticonvulsants Phase 2, Phase 3
10 Protective Agents Phase 2, Phase 3
11 Hormones Phase 3
12 Thyrotropin-Releasing Hormone Phase 3
13 Antidepressive Agents Phase 2, Phase 3
14 Psychotropic Drugs Phase 2, Phase 3
15
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
16
Menthol Approved Phase 2 2216-51-5 16666
17 Immunoglobulins Phase 2
18 Antibodies Phase 2
19 Immunologic Factors Phase 2
20 gamma-Globulins Phase 2
21 Immunoglobulins, Intravenous Phase 2
22 Rho(D) Immune Globulin Phase 2
23 Calcium, Dietary Phase 2
24 Nicotinic Agonists Phase 2
25 Cholinergic Agents Phase 2
26
Calcium Nutraceutical Phase 2 7440-70-2 271
27 Pharmaceutical Solutions Phase 1
28
4-Aminopyridine Approved 504-24-5 1727
29
tannic acid Approved 1401-55-4
30
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
31
Dopamine Approved 62-31-7, 51-61-6 681
32 Potassium Channel Blockers
33 Omega 3 Fatty Acid
34 Dopamine agonists

Interventional clinical trials:

(show top 50) (show all 75)
# Name Status NCT ID Phase Drugs
1 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
2 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Unknown status NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
3 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
4 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
5 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
6 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
7 A Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
8 An Additional Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
9 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
10 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo;Troriluzole
11 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
12 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
13 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
14 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
15 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
16 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
17 An Open-label, Phase II Study of KPS-0373 in Patients With SCD Completed NCT00863538 Phase 2 KPS-0373
18 A Double-blind, Placebo-controlled, Crossover Study, Followed by Open-label Study of KPS-0373 in Patients With SCD Completed NCT01004016 Phase 2 KPS-0373;Placebo
19 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
20 A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
21 A Randomized, Double Blind, Placebo-controlled Phase II Study of KPS-0373 in Patients With SCD Completed NCT01384435 Phase 2 KPS-0373;KPS-0373;KPS-0373;KPS-0373;Placebo
22 A Single-Center, Randomized, Double-Blind, Parallel-Group, Dose-Controlled Study, to Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2 Cabaletta for IV infusion once weekly during 24 weeks;Cabaletta for IV infusion once weekly during 24 weeks
23 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
24 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
25 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
26 Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, and Efficacy of CAD-1883 in Adults With Spinocerebellar Ataxia (Synchrony-1) Suspended NCT04301284 Phase 2 CAD-1883;Placebos
27 Phenylbutyrate in SCA3: a Double-blind, Placebo-controlled Study to Determine Safety and Efficacy of Sodium Phenylbutyrate in Patients With SCA3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
28 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Unknown status NCT02287064 Phase 1 Intravenous Immune Globulin (IVIG)
29 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
30 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630
31 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
32 Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7) Unknown status NCT01037777
33 Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation Unknown status NCT02175290
34 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
35 Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study Completed NCT04426149
36 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
37 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
38 Effects of Aerobic Exercise on Degenerative Cerebellar Disease Completed NCT03745248
39 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
40 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
41 Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial Completed NCT01811706 Dalfampridine;Placebo
42 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
43 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
44 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
45 Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia Completed NCT01975909
46 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
47 Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Completed NCT02874911
48 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
49 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
50 Effect of Repetitive Transcranial Magnetic Stimulation With Intensive Physical Therapy in Cerebellar Ataxia: A Pilot Study Completed NCT04595578

Search NIH Clinical Center for Primary Cerebellar Degeneration

Cochrane evidence based reviews: spinocerebellar degenerations

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Genetic Tests for Primary Cerebellar Degeneration

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Anatomical Context for Primary Cerebellar Degeneration

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MalaCards organs/tissues related to Primary Cerebellar Degeneration:

40
Cortex, Cerebellum, Retina
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Publications for Primary Cerebellar Degeneration

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Articles related to Primary Cerebellar Degeneration:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Effects of curcumin on mitochondria in neurodegenerative diseases. 61
31580521 2020
2
Differentiation Between Multiple System Atrophy and Other Spinocerebellar Degenerations Using Diffusion Kurtosis Imaging. 61
30658931 2019
3
[Overview of Hereditary Spinocerebellar Ataxias in Japan]. 61
28819072 2017
4
Pathology of Neurodegenerative Diseases. 61
28062563 2017
5
Progressive cerebellar degeneration revealing Primary Sjögren Syndrome: a case report. 61
27777786 2016
6
A new mouse allele of glutamate receptor delta 2 with cerebellar atrophy and progressive ataxia. 61
25250835 2014
7
[Molecular genetics and gene analysis of hereditary spastic paraplegia]. 61
25672695 2014
8
Spinocerebellar degenerations. 61
21496573 2011
9
[A case of cerebellar syndrome associated with HIV infection]. 61
19999147 2009
10
Cognitive impairment in spinocerebellar degeneration. 61
19295212 2009
11
Prevalence of spinocerebellar degenerations in the Hokuriku district in Japan. 61
19169038 2009
12
Spinocerebellar degenerations in Japan. New insights from an epidemiological study. 61
19169039 2009
13
Suppression of myoclonus in SCA2 by piracetam. 61
16149096 2006
14
Influence of repetitive transcranial magnetic stimulation on disease severity and oxidative stress markers in the cerebrospinal fluid of patients with spinocerebellar degeneration. 61
15845214 2005
15
Direct visualisation of gaze and hypometric saccades in cerebellar patients during visually guided stepping. 61
15536032 2005
16
[Clinical features and molecular genetics of autosomal recessive spinocerebellar degenerations]. 61
15651291 2004
17
[The genetics of movement disorders--spinocerebellar degenerations]. 61
15356686 2004
18
[Comparison between MRI and 3D-SSP in olivopontocerebellar atrophy and cortical cerebellar atrophy]. 61
15287507 2004
19
[Voluntary postural control learning with a use of visual bio-feedback in patients with spinocerebellar degenerations]. 61
15002317 2004
20
Spinocerebellar degeneration. 61
14521474 2003
21
Cerebellar degeneration in a mature Staffordshire terrier. 61
14518653 2003
22
Spinocerebellar degenerations: an update. 61
12044253 2002
23
Primary cerebellar degeneration and HIV. 61
11427105 2001
24
Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations. 61
10367323 1999
25
Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. 61
10090679 1999
26
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
9829277 1998
27
Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients. 61
9758299 1998
28
Cerebellar degeneration associated with human immunodeficiency virus infection. 61
9443487 1998
29
[Olivopontocerebellar atrophy--a heterogenous morphologic syndrome]. 61
9451569 1997
30
[A study of heel-knee tapping test in cerebellar ataxia by a motion measurement system]. 61
8777795 1995
31
Spinocerebellar degeneration and cerebral hypomyelination in a family. 61
7573169 1995
32
[Status of hypothalamic dopamine receptors in spinocerebellar degenerations]. 61
8585180 1995
33
[Abnormal ocular movements in spinocerebellar degenerations]. 61
7669398 1995
34
[Spinocerebellar degenerations in Japan--the features from an epidemiological study]. 61
7669402 1995
35
A radiological analysis of heart sympathetic functions with meta-[123I]iodobenzylguanidine in neurological patients with autonomic failure. 61
7963268 1994
36
A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. 61
8035935 1994
37
[Dual nature of excitatory amino acids in the vertebrate retina]. 61
8197908 1994
38
Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. 61
8059595 1994
39
The gene for Machado-Joseph disease maps to human chromosome 14q. 61
8358439 1993
40
Glutamate dehydrogenase deficiency in Machado-Joseph disease. 61
8334577 1993
41
[Some problems on the characteristic clinical features and gene linkage analysis of autosomal dominant spinocerebellar degenerations]. 61
1291181 1992
42
[A multivariate analysis of prognostic factors of spinocerebellar degenerations]. 61
1395325 1992
43
[Brain stem auditory evoked potentials in spinocerebellar degeneration]. 61
1333700 1992
44
[Immunohistochemical study of glial cytoplasmic inclusion in multiple system atrophy]. 61
1720637 1991
45
[Abnormality of hypothalamic dopaminergic system in neuro-degenerative diseases--evaluation of alpha-melanocyte-stimulating hormone-like immunoreactivity in cerebrospinal fluid]. 61
1764856 1991
46
CT scan and threshold vibrometry in the diagnosis of spinocerebellar degenerations. 61
2071363 1991
47
Two types of abnormal somatosensory evoked potentials in chronic cerebellar ataxias. 61
2009166 1991
48
Spinocerebellar degeneration. 61
2056261 1991
49
Critical review of gangliosides and thyrotropin-releasing hormone in peripheral neuromuscular diseases. 61
2233870 1990
50
[An MRI study of hereditary spinocerebellar degenerations]. 61
2225653 1990
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Variations for Primary Cerebellar Degeneration

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Expression for Primary Cerebellar Degeneration

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Search GEO for disease gene expression data for Primary Cerebellar Degeneration.
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Pathways for Primary Cerebellar Degeneration

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GO Terms for Primary Cerebellar Degeneration

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Sources for Primary Cerebellar Degeneration

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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