MCID: BSL009
MIFTS: 42

Basal Ganglia Calcification

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification

MalaCards integrated aliases for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification 12 29 15 73
Fahr's Syndrome 54 73
Idiopathic Basal Ganglia Calcification 1 44
Fahr's Disease 76
Fahr Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060230
MeSH 44 C536275
NCIt 50 C129973

Summaries for Basal Ganglia Calcification

Disease Ontology : 12 A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.

MalaCards based summary : Basal Ganglia Calcification, also known as fahr's syndrome, is related to familial idiopathic basal ganglia calcification and primary familial brain calcification, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Basal Ganglia Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Immune response IFN alpha/beta signaling pathway and PDGFR-beta signaling pathway. Affiliated tissues include brain, cortex and prostate.

Wikipedia : 76 Idiopathic basal ganglia calcification, also known as Fahr disease, is a rare,genetically dominant,... more...

Related Diseases for Basal Ganglia Calcification

Diseases related to Basal Ganglia Calcification via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 familial idiopathic basal ganglia calcification 34.0 SLC20A2 SNTG1
2 primary familial brain calcification 32.2 PDGFB PDGFRB SLC20A2 XPR1
3 basal ganglia calcification, idiopathic, 1 12.9
4 basal ganglia calcification, idiopathic, 5 12.7
5 basal ganglia calcification, idiopathic, 4 12.7
6 basal ganglia calcification, idiopathic, 6 12.7
7 basal ganglia calcification, idiopathic, 2 12.7
8 immunodeficiency 38 with basal ganglia calcification 12.7
9 basal ganglia calcification, idiopathic, childhood-onset 12.6
10 aicardi-goutieres syndrome 11.6
11 hypocalcemia, autosomal dominant 1 11.4
12 proteasome-associated autoinflammatory syndrome 1 11.3
13 hypocalcemia, autosomal dominant 2 11.3
14 aicardi-goutieres syndrome 7 11.3
15 congenital intrauterine infection-like syndrome 11.0
16 hypoparathyroidism 10.6
17 pseudohypoparathyroidism 10.3
18 dystonia 10.3
19 epilepsy 10.2
20 schizophrenia 10.2
21 dementia 10.2
22 down syndrome 10.1
23 kearns-sayre syndrome 10.1
24 bipolar disorder 10.1
25 diabetes mellitus 10.1
26 calcinosis 10.1
27 mood disorder 10.1
28 corticobasal degeneration 10.1
29 organic mood syndrome 10.1
30 spasticity 10.1
31 paroxysmal nonkinesigenic dyskinesia 1 9.9
32 multiple sclerosis 9.9
33 dystonia 1, torsion, autosomal dominant 9.9
34 dystonia 12 9.9
35 digeorge syndrome 9.9
36 pseudohypoparathyroidism, type ii 9.9
37 autism 9.9
38 disorganization, mouse, homolog of 9.9
39 neurodegeneration with brain iron accumulation 1 9.9
40 mitochondrial myopathy 9.9
41 biotinidase deficiency 9.9
42 leigh syndrome 9.9
43 short syndrome 9.9
44 neurodegeneration with brain iron accumulation 5 9.9
45 aging 9.9
46 diabetes and deafness, maternally inherited 9.9
47 supranuclear palsy, progressive, 1 9.9
48 acute lymphocytic leukemia 9.9
49 arteriovenous fistula 9.9
50 glomerulonephritis 9.9

Graphical network of the top 20 diseases related to Basal Ganglia Calcification:



Diseases related to Basal Ganglia Calcification

Symptoms & Phenotypes for Basal Ganglia Calcification

UMLS symptoms related to Basal Ganglia Calcification:


tremor, abnormality of extrapyramidal motor function, dysdiadochokinesis, bradykinesia, athetosis, cerebellar ataxia, muscle rigidity

Drugs & Therapeutics for Basal Ganglia Calcification

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification

Cochrane evidence based reviews: idiopathic basal ganglia calcification 1

Genetic Tests for Basal Ganglia Calcification

Genetic tests related to Basal Ganglia Calcification:

# Genetic test Affiliating Genes
1 Basal Ganglia Calcification 29

Anatomical Context for Basal Ganglia Calcification

MalaCards organs/tissues related to Basal Ganglia Calcification:

41
Brain, Cortex, Prostate, Skin, Bone, Thyroid, Caudate Nucleus

Publications for Basal Ganglia Calcification

Articles related to Basal Ganglia Calcification:

(show top 50) (show all 201)
# Title Authors Year
1
Letter to the Editor Regarding "Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?" ( 29714087 )
2018
2
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification. ( 29288724 )
2018
3
Primary hypoparathyroidism presenting as basal ganglia calcification secondary to extreme hypocalcemia. ( 29383229 )
2018
4
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report. ( 29642163 )
2018
5
Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy? ( 29334856 )
2018
6
Reply to Letter on "Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?" ( 29714093 )
2018
7
Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). ( 29627011 )
2018
8
Idiopathic basal ganglia calcification associated with cerebral micro-infarcts: a case report. ( 29665789 )
2018
9
A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients. ( 29578123 )
2018
10
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. ( 30100227 )
2018
11
A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter. ( 30335026 )
2018
12
A Case of Seizure Revealing Fahr's Syndrome with Primary Hypoparathyroidism. ( 30504755 )
2018
13
MRI Cannot Detect Calcification for the Diagnosis of Fahr's Syndrome. ( 29434144 )
2018
14
Fahr's Syndrome in a Greenlandic Inuit. ( 30128421 )
2018
15
Unusual Cause of Hypotension in a Polytrauma Victim: A Case of Fahr's Syndrome. ( 30186019 )
2018
16
Fahr's syndrome in Southern Tunisia: A broad spectrum of clinical and etiological features. ( 30430526 )
2018
17
Fahr's syndrome. ( 30506211 )
2018
18
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286 )
2017
19
Fahr disease: Idiopathic basal ganglia calcification. ( 28717437 )
2017
20
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification. ( 28477710 )
2017
21
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
22
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene. ( 29034894 )
2017
23
Fahr's Syndrome Misdiagnosed as Schizophrenia: A Case Report. ( 28473946 )
2017
24
Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification. ( 27502967 )
2016
25
Basal Ganglia Calcification in Psychiatric Inpatients: A Case-Control Study. ( 27662451 )
2016
26
A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification. ( 27943471 )
2016
27
SLC20A2 deficiency in mice leads to elevated phosphate levels in cerbrospinal fluid and glymphatic pathway-associated arteriolar calcification, and recapitulates human idiopathic basal ganglia calcification. ( 26822507 )
2016
28
Basal ganglia calcification in a case of PKAN. ( 28024710 )
2016
29
Idiopathic basal ganglia calcification (Fahr's disease) and dementia. ( 26939914 )
2016
30
Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease. ( 27777849 )
2016
31
Idiopathic Basal Ganglia Calcification Presented with Progressive Supranuclear Palsy-like Features. ( 26879023 )
2016
32
Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor. ( 27066848 )
2016
33
RADIOLOGY CASE OF THE MONTH: A CASE OF IDIOPATHIC BASAL GANGLIA CALCIFICATION AND BRIEF REVIEW OF THE LITERATURE. ( 26986866 )
2016
34
EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION. ( 30226966 )
2016
35
Fahr's syndrome. ( 27086479 )
2016
36
Fahr's Syndrome Associated with Multiple Intracranial Aneurysms: A Case Report. ( 27306481 )
2016
37
Fahr's Syndrome Associated with Multiple Intracranial Aneurysms: A Case Report. ( 27400114 )
2016
38
Fahr's Disease or Fahr's Syndrome? ( 27672489 )
2016
39
Fahr's syndrome and clinical correlation: a case series and literature review. ( 27764521 )
2016
40
Fahr's syndrome presenting with epileptic seizure: Two case reports. ( 28058390 )
2016
41
Femoral neck's fracture in Fahr's Syndrome: case report. ( 28228797 )
2016
42
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. ( 25292412 )
2015
43
[Molecular mechanism of idiopathic basal ganglia calcification]. ( 26353387 )
2015
44
Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder. ( 26246920 )
2015
45
Bilateral basal ganglia calcification and recurrent generalized seizures as initial presentation of idiopathic hypoparathyroidism in an infant. ( 26167230 )
2015
46
Familial idiopathic basal ganglia calcification (Fahr's disease) and diabetes mellitus: A review of literature. ( 26588638 )
2015
47
Idiopathic basal ganglia calcification presenting as schizophrenia-like psychosis and obsessive-compulsive symptoms: A case report. ( 26622362 )
2015
48
Cooccurrence of Multiple Sclerosis and Idiopathic Basal Ganglia Calcification. ( 26351460 )
2015
49
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. ( 26635128 )
2015
50
[Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene]. ( 25636102 )
2015

Variations for Basal Ganglia Calcification

ClinVar genetic disease variations for Basal Ganglia Calcification:

6 (show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC20A2 SLC20A2, GLY498ARG single nucleotide variant Pathogenic
2 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> G (p.Ser601Trp) single nucleotide variant Pathogenic rs387906652 GRCh37 Chromosome 8, 42275478: 42275478
3 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> G (p.Ser601Trp) single nucleotide variant Pathogenic rs387906652 GRCh38 Chromosome 8, 42417960: 42417960
4 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> T (p.Ser601Leu) single nucleotide variant Pathogenic rs387906652 GRCh37 Chromosome 8, 42275478: 42275478
5 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> T (p.Ser601Leu) single nucleotide variant Pathogenic rs387906652 GRCh38 Chromosome 8, 42417960: 42417960
6 SLC20A2 NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys) single nucleotide variant Pathogenic rs387906653 GRCh37 Chromosome 8, 42286347: 42286347
7 SLC20A2 NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys) single nucleotide variant Pathogenic rs387906653 GRCh38 Chromosome 8, 42428829: 42428829
8 SLC20A2 NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met) single nucleotide variant Pathogenic rs387906654 GRCh37 Chromosome 8, 42286286: 42286286
9 SLC20A2 NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met) single nucleotide variant Pathogenic rs387906654 GRCh38 Chromosome 8, 42428768: 42428768
10 SLC20A2 NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs) deletion Pathogenic rs398122396 GRCh37 Chromosome 8, 42275449: 42275452
11 SLC20A2 NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs) deletion Pathogenic rs398122396 GRCh38 Chromosome 8, 42417931: 42417934
12 SLC20A2 NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs) deletion Pathogenic rs398122397 GRCh37 Chromosome 8, 42317443: 42317444
13 SLC20A2 NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs) deletion Pathogenic rs398122397 GRCh38 Chromosome 8, 42459925: 42459926
14 CHRNA6; CHRNB3; FNTA; HOOK3; RNF170; SLC20A2; SMIM19; THAP1 NC_000008.10: g.42338721_42916885del578165 deletion Likely pathogenic GRCh37 Chromosome 8, 42338721: 42916885
15 SLC20A2 NM_006749.4(SLC20A2): c.509delT (p.Leu170Terfs) deletion Pathogenic rs398122395 GRCh37 Chromosome 8, 42320530: 42320530
16 SLC20A2 NM_006749.4(SLC20A2): c.509delT (p.Leu170Terfs) deletion Pathogenic rs398122395 GRCh38 Chromosome 8, 42463012: 42463012
17 SLC20A2 NM_006749.4(SLC20A2): c.1812C> T (p.Ala604=) single nucleotide variant Benign/Likely benign rs116401889 GRCh37 Chromosome 8, 42275468: 42275468
18 SLC20A2 NM_006749.4(SLC20A2): c.1812C> T (p.Ala604=) single nucleotide variant Benign/Likely benign rs116401889 GRCh38 Chromosome 8, 42417950: 42417950
19 SLC20A2 NM_006749.4(SLC20A2): c.58T> C (p.Leu20=) single nucleotide variant Benign/Likely benign rs115993270 GRCh37 Chromosome 8, 42329851: 42329851
20 SLC20A2 NM_006749.4(SLC20A2): c.58T> C (p.Leu20=) single nucleotide variant Benign/Likely benign rs115993270 GRCh38 Chromosome 8, 42472333: 42472333
21 SLC20A2 NM_006749.4(SLC20A2): c.*926C> T single nucleotide variant Likely benign rs575143642 GRCh37 Chromosome 8, 42274395: 42274395
22 SLC20A2 NM_006749.4(SLC20A2): c.*926C> T single nucleotide variant Likely benign rs575143642 GRCh38 Chromosome 8, 42416877: 42416877
23 SLC20A2 NM_006749.4(SLC20A2): c.*538C> T single nucleotide variant Uncertain significance rs746914329 GRCh37 Chromosome 8, 42274783: 42274783
24 SLC20A2 NM_006749.4(SLC20A2): c.*538C> T single nucleotide variant Uncertain significance rs746914329 GRCh38 Chromosome 8, 42417265: 42417265
25 SLC20A2 NM_006749.4(SLC20A2): c.*409A> G single nucleotide variant Likely benign rs190717111 GRCh37 Chromosome 8, 42274912: 42274912
26 SLC20A2 NM_006749.4(SLC20A2): c.*409A> G single nucleotide variant Likely benign rs190717111 GRCh38 Chromosome 8, 42417394: 42417394
27 SLC20A2 NM_006749.4(SLC20A2): c.*289A> C single nucleotide variant Uncertain significance rs892436898 GRCh37 Chromosome 8, 42275032: 42275032
28 SLC20A2 NM_006749.4(SLC20A2): c.*289A> C single nucleotide variant Uncertain significance rs892436898 GRCh38 Chromosome 8, 42417514: 42417514
29 SLC20A2 NM_006749.4(SLC20A2): c.*171G> A single nucleotide variant Uncertain significance rs908206225 GRCh37 Chromosome 8, 42275150: 42275150
30 SLC20A2 NM_006749.4(SLC20A2): c.*171G> A single nucleotide variant Uncertain significance rs908206225 GRCh38 Chromosome 8, 42417632: 42417632
31 SLC20A2 NM_006749.4(SLC20A2): c.1911C> T (p.Ser637=) single nucleotide variant Likely benign rs141545390 GRCh37 Chromosome 8, 42275369: 42275369
32 SLC20A2 NM_006749.4(SLC20A2): c.1911C> T (p.Ser637=) single nucleotide variant Likely benign rs141545390 GRCh38 Chromosome 8, 42417851: 42417851
33 SLC20A2 NM_006749.4(SLC20A2): c.1572C> T (p.Gly524=) single nucleotide variant Likely benign rs116795654 GRCh37 Chromosome 8, 42287719: 42287719
34 SLC20A2 NM_006749.4(SLC20A2): c.1572C> T (p.Gly524=) single nucleotide variant Likely benign rs116795654 GRCh38 Chromosome 8, 42430201: 42430201
35 SLC20A2 NM_006749.4(SLC20A2): c.1438G> A (p.Ala480Thr) single nucleotide variant Benign/Likely benign rs79577461 GRCh37 Chromosome 8, 42294592: 42294592
36 SLC20A2 NM_006749.4(SLC20A2): c.1438G> A (p.Ala480Thr) single nucleotide variant Benign/Likely benign rs79577461 GRCh38 Chromosome 8, 42437074: 42437074
37 SLC20A2 NM_006749.4(SLC20A2): c.1377G> T (p.Glu459Asp) single nucleotide variant Uncertain significance rs144428935 GRCh37 Chromosome 8, 42294653: 42294653
38 SLC20A2 NM_006749.4(SLC20A2): c.1377G> T (p.Glu459Asp) single nucleotide variant Uncertain significance rs144428935 GRCh38 Chromosome 8, 42437135: 42437135
39 SLC20A2 NM_006749.4(SLC20A2): c.909G> A (p.Ala303=) single nucleotide variant Benign/Likely benign rs75248974 GRCh37 Chromosome 8, 42296993: 42296993
40 SLC20A2 NM_006749.4(SLC20A2): c.909G> A (p.Ala303=) single nucleotide variant Benign/Likely benign rs75248974 GRCh38 Chromosome 8, 42439475: 42439475
41 SLC20A2 NM_006749.4(SLC20A2): c.834G> A (p.Lys278=) single nucleotide variant Uncertain significance rs778920007 GRCh37 Chromosome 8, 42297068: 42297068
42 SLC20A2 NM_006749.4(SLC20A2): c.834G> A (p.Lys278=) single nucleotide variant Uncertain significance rs778920007 GRCh38 Chromosome 8, 42439550: 42439550
43 SLC20A2 NM_006749.4(SLC20A2): c.787G> A (p.Val263Ile) single nucleotide variant Likely benign rs369823081 GRCh37 Chromosome 8, 42297115: 42297115
44 SLC20A2 NM_006749.4(SLC20A2): c.787G> A (p.Val263Ile) single nucleotide variant Likely benign rs369823081 GRCh38 Chromosome 8, 42439597: 42439597
45 SLC20A2 NM_006749.4(SLC20A2): c.345G> A (p.Thr115=) single nucleotide variant Likely benign rs34124953 GRCh37 Chromosome 8, 42323380: 42323380
46 SLC20A2 NM_006749.4(SLC20A2): c.345G> A (p.Thr115=) single nucleotide variant Likely benign rs34124953 GRCh38 Chromosome 8, 42465862: 42465862
47 SLC20A2 NM_006749.4(SLC20A2): c.290-13C> A single nucleotide variant Likely benign rs114824268 GRCh37 Chromosome 8, 42323448: 42323448
48 SLC20A2 NM_006749.4(SLC20A2): c.290-13C> A single nucleotide variant Likely benign rs114824268 GRCh38 Chromosome 8, 42465930: 42465930
49 SLC20A2 NM_006749.4(SLC20A2): c.-89A> G single nucleotide variant Likely benign rs185590768 GRCh37 Chromosome 8, 42329997: 42329997
50 SLC20A2 NM_006749.4(SLC20A2): c.-89A> G single nucleotide variant Likely benign rs185590768 GRCh38 Chromosome 8, 42472479: 42472479

Expression for Basal Ganglia Calcification

Search GEO for disease gene expression data for Basal Ganglia Calcification.

Pathways for Basal Ganglia Calcification

GO Terms for Basal Ganglia Calcification

Cellular components related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 8.62 PDGFRB XPR1

Biological processes related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.54 PDGFB PDGFRB
2 positive regulation of MAP kinase activity GO:0043406 9.52 PDGFB PDGFRB
3 positive regulation of smooth muscle cell proliferation GO:0048661 9.51 PDGFB PDGFRB
4 positive regulation of fibroblast proliferation GO:0048146 9.49 PDGFB PDGFRB
5 platelet-derived growth factor receptor signaling pathway GO:0048008 9.48 PDGFB PDGFRB
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 PDGFB PDGFRB
7 positive regulation of reactive oxygen species metabolic process GO:2000379 9.43 PDGFB PDGFRB
8 positive regulation of mitotic nuclear division GO:0045840 9.4 PDGFB PDGFRB
9 positive regulation of smooth muscle cell migration GO:0014911 9.37 PDGFB PDGFRB
10 phosphate ion transmembrane transport GO:0035435 9.32 SLC20A2 XPR1
11 positive regulation of calcium ion import GO:0090280 9.26 PDGFB PDGFRB
12 positive regulation of DNA biosynthetic process GO:2000573 9.16 PDGFB PDGFRB
13 positive regulation of chemotaxis GO:0050921 8.96 PDGFB PDGFRB
14 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 8.62 PDGFB PDGFRB

Molecular functions related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 PDGFB PDGFRB
2 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFB PDGFRB
3 platelet-derived growth factor binding GO:0048407 8.62 PDGFB PDGFRB

Sources for Basal Ganglia Calcification

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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