MCID: BSL009
MIFTS: 46

Basal Ganglia Calcification malady

Rare diseases category

Summaries for Basal Ganglia Calcification

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NINDS:42 Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, (poorly articulated speech), (stiffness of the limbs) and spastic paralysis, eye impairments, and (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.

MalaCards based summary: Basal Ganglia Calcification, also known as fahr's syndrome, is related to nasu-hakola disease and down syndrome. An important gene associated with Basal Ganglia Calcification is SLC20A2 (solute carrier family 20 (phosphate transporter), member 2), and among its related pathways are G protein signaling H RAS regulation pathway and Cytoskeleton remodeling Role of PDGFs in cell migration. The compounds dmpq dihydrochloride and su 16f have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related mouse phenotypes are other and renal/urinary system.

Disease Ontology:9 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.

Aliases & Classifications for Basal Ganglia Calcification

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Basal Ganglia Calcification, Aliases & Descriptions:

Name: Basal Ganglia Calcification 9
Fahr's Syndrome 42 22 60
Cerebral Calcification Nonarteriosclerotic Idiopathic Childhood-Onset 41
Bilateral Striopallidodentate Calcinosis Childhood-Onset 41
Idiopathic Basal Ganglia Calcification, Childhood Onset 60
Idiopathic Basal Ganglia Calcification Childhood-Onset 41
 
Childhood-Onset Idiopathic Basal Ganglia Calcification 9
Idiopathic Basal Ganglia Calcification 9
Basal Ganglia Calcifications 60
Ibgc Childhood Onset 41
Fahr Disease 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

Disease Ontology9 DOID:0060230
MeSH33 C536275

Related Diseases for Basal Ganglia Calcification

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1nasu-hakola disease30.3TYROBP, TREM2
2down syndrome30.1MAPT, PSEN2, PSEN1, APP
3dementia29.4TYROBP, APP, PSEN1, PSEN2, MAPT, TREM2
4familial idiopathic basal ganglia calcification11.1
5basal ganglia calcification, idiopathic, 110.7
6hypoparathyroidism10.7
7basal ganglia calcification, idiopathic, 210.6
8basal ganglia calcification, idiopathic, 410.6
9basal ganglia calcification, idiopathic, 510.6
10kearns-sayre syndrome10.5
11aicardi-goutieres syndrome10.5
12pseudohypoparathyroidism10.5
13semantic dementia10.4MAPT
14aicardi-goutieres syndrome 710.4
15autoinflammation, lipodystrophy, and dermatosis syndrome10.4
16hypocalcemia, autosomal dominant10.4
17aicardi-goutieres syndrome 1, dominant and recessive10.4
18dystonia10.4
19mood disorder10.4
20corticobasal degeneration10.4
21desmoid disease, hereditary10.3PDGFRB, PDGFB
22dermatofibrosarcoma protuberans10.3PDGFRB, PDGFB
23meningioma, familial10.3PDGFB, PDGFRB
24dementia, frontotemporal10.2PSEN1, MAPT
25pick disease10.2PSEN1, MAPT
26schizophrenia10.2
27spastic paraplegia 56, autosomal recessive10.2
28oculodentodigital dysplasia10.2
29kenny-caffey syndrome, type 210.2
30aicardi-goutieres syndrome 210.2
31folate malabsorption, hereditary10.2
32aicardi-goutieres syndrome 510.2
33biotinidase deficiency10.2
34xeroderma pigmentosum, group b10.2
35cockayne syndrome, type a10.2
36osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.2
37cockayne syndrome, type b10.2
38pseudohypoparathyroidism ia10.2
39pseudohypoparathyroidism ic10.2
40arteriovenous fistula10.2
41bipolar disorder10.2
42glomerulonephritis10.2
43membranoproliferative glomerulonephritis10.2
44ganglioglioma10.2
45blepharospasm10.2
46rickets10.2
47mutism10.2
48arteriovenous malformation10.2
49calcinosis10.2
50gangliosidosis10.2

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



Diseases related to basal ganglia calcification

Symptoms for Basal Ganglia Calcification

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Drugs & Therapeutics for Basal Ganglia Calcification

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Drug clinical trials:

Search ClinicalTrials for Basal Ganglia Calcification

Search NIH Clinical Center for Basal Ganglia Calcification

Genetic Tests for Basal Ganglia Calcification

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Genetic tests related to Basal Ganglia Calcification:

id Genetic test Affiliating Genes
1 Fahr's Syndrome22

Anatomical Context for Basal Ganglia Calcification

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MalaCards organs/tissues related to Basal Ganglia Calcification:

31
Brain, Eye, Cortex, Bone, Pineal

Animal Models for Basal Ganglia Calcification or affiliated genes

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Publications for Basal Ganglia Calcification

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Articles related to Basal Ganglia Calcification:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Familial idiopathic basal ganglia calcification (Fahr`s disease). (24983277)
2014
2
Effect of basal ganglia calcification on its glucose metabolism and dopaminergic function in idiopathic hypoparathyroidism. (25366923)
2014
3
Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration. (25301227)
2014
4
Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification. (24434185)
2014
5
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. (23939468)
2013
6
Psychosis revealing familial idiopathic basal ganglia calcification. (23122487)
2013
7
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. (23054591)
2013
8
Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome. (24416050)
2013
9
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. (24065723)
2013
10
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. (23334463)
2013
11
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. (24286000)
2013
12
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. (23255827)
2013
13
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification. (23437308)
2013
14
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. (23406454)
2013
15
Anticipation of familial idiopathic basal ganglia calcification? (22504267)
2012
16
Rare co-occurrence of dural arteriovenous fistula and arteriovenous malformation with bilateral subcortical and basal ganglia calcification. (22755350)
2012
17
A comorbid case of familial Idiopathic Basal Ganglia Calcification ("FahrA's Disease") associated with post-polio syndrome. (22772679)
2012
18
Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism. (22288727)
2012
19
Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation. (22982920)
2012
20
Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. (22988575)
2012
21
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). (20838928)
2011
22
A case of idiopathic basal ganglia calcification associated with membranoproliferative glomerulonephritis. (22001464)
2011
23
Extensive basal ganglia calcification related to hypoparathyroidism in a young woman. (20467294)
2011
24
Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. (18663732)
2009
25
Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. (19252803)
2009
26
Updating genetic studies in familial idiopathic basal ganglia calcification. (19668038)
2009
27
A case report of Basal Ganglia calcification - a rare finding of hypoparathyroidism. (22224190)
2009
28
Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification. (17357130)
2007
29
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. (16505336)
2006
30
Basal Ganglia calcification in mitochondrial disorders. (16167199)
2005
31
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. (15883308)
2005
32
Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification. (15654564)
2005
33
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). (15596772)
2004
34
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. (15337474)
2004
35
Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike? (12621646)
2003
36
Schizophrenia and familial idiopathic basal ganglia calcification: a case report. (11352376)
2001
37
Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. (10063711)
1999
38
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). (10441584)
1999
39
Idiopathic hypoparathyroidism with basal ganglia calcification, epilepsy, and interictal focal hyperperfusion. (9568766)
1998
40
Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia. (9087991)
1997
41
Pineal ganglioglioma in a patient with familial basal ganglia calcification and elevated serum alpha-fetoprotein: case report. (7692346)
1993
42
Blepharospasm associated with pseudohypoparathyroidism and bilateral basal ganglia calcifications. (1758461)
1991
43
Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. (2363422)
1990
44
Basal ganglia calcification and organic mood disorder. (2912244)
1989
45
Idiopathic basal ganglia calcification and organic mood disorder. (3344850)
1988
46
Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification. (3404168)
1988
47
Basal ganglia calcifications in a case of biotinidase deficiency. (3399084)
1988
48
Hyperkinetic mutism: bilateral ballism and basal ganglia calcification. (3703289)
1986
49
Basal ganglia calcification in pseudohypoparathyroidism type II. (7307284)
1981
50
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
1974

Variations for Basal Ganglia Calcification

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Clinvar genetic disease variations for Basal Ganglia Calcification:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SLC20A2NM_006749.4(SLC20A2): c.1802C> G (p.Ser601Trp)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
2SLC20A2NM_006749.4(SLC20A2): c.1802C> T (p.Ser601Leu)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
3SLC20A2NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys)single nucleotide variantPathogenicrs387906653GRCh37Chr 8, 42286347: 42286347
4SLC20A2NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met)single nucleotide variantPathogenicrs387906654GRCh37Chr 8, 42286286: 42286286
5SLC20A2NM_006749.4(SLC20A2): c.508delT (p.Leu170Terfs)deletionPathogenicrs398122395GRCh37Chr 8, 42320531: 42320531
6SLC20A2NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs)deletionPathogenicrs398122396GRCh37Chr 8, 42275449: 42275452
7SLC20A2NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs)deletionPathogenicrs398122397GRCh37Chr 8, 42317443: 42317444

Expression for genes affiliated with Basal Ganglia Calcification

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

Pathways for genes affiliated with Basal Ganglia Calcification

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Pathways related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PDGFB, PDGFRB
2
Show member pathways
PDGF Pathway36
9.9PDGFRB, PDGFB
39.9PDGFB, PDGFRB
49.9PSEN2, PSEN1
5
Show member pathways
9.6PSEN2, PDGFRB, PDGFB
6
Show member pathways
MAPK signaling pathway36
9.6PDGFB, PDGFRB, MAPT
79.5PSEN2, PSEN1, APP
8
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
9.5APP, PSEN1, PSEN2
99.5APP, PSEN1, PSEN2
10
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
9.3PSEN1, PSEN2, PDGFRB, PDGFB
11
Show member pathways
9.2PDGFB, PDGFRB, MAPT, APP
12
Show member pathways
Alzheimers Disease36
9.1MAPT, PSEN2, PSEN1, APP
139.1APP, PSEN1, PSEN2, MAPT
148.9PDGFRB, MAPT, PSEN2, PSEN1, APP
15
Show member pathways
8.8TYROBP, PSEN2, PDGFRB, PDGFB, TREM2

Compounds for genes affiliated with Basal Ganglia Calcification

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Compounds related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
1dmpq dihydrochloride5910.3PDGFRB, PDGFB
2su 16f5910.3PDGFRB, PDGFB
3su 66685910.3PDGFRB, PDGFB
4sunitinib malate5910.3PDGFRB, PDGFB
5s-1824310.3PSEN2, PSEN1
6mrk 5605910.3PSEN1, PSEN2
7jlk 65910.3PSEN1, PSEN2
8begacestat5910.3PSEN1, PSEN2
9l-685,4585910.3PSEN1, PSEN2
10dapt5910.3PSEN1, PSEN2
11ab-424310.2PSEN2, APP
12thioflavin4310.2APP, MAPT
13thioflavine s4310.1MAPT, APP
14tacrine43 1211.1MAPT, APP
15donepezil43 49 24 1213.1MAPT, APP
16memantine43 28 49 1213.0MAPT, APP
17galantamine43 49 1212.0MAPT, APP
18bromodeoxyuridine439.9PSEN1, PDGFRB, PDGFB
19spec-t439.9MAPT, PSEN1
20formate439.9APP, MAPT
21ribonucleic acid439.8PDGFB, PDGFRB, PSEN2
22carbachol43 28 1211.7APP, PSEN1, MAPT
23folate439.7MAPT, PSEN1, APP
24paraffin439.6PSEN2, MAPT, PDGFRB, PDGFB
254-hydroxynonenal43 2410.6APP, PSEN1, MAPT, PDGFRB
26lactacystin439.6MAPT, PSEN2, PSEN1, APP
27choline43 24 1211.6APP, PSEN1, PSEN2, MAPT
28valine439.6APP, PSEN1, PSEN2, MAPT
29paclitaxel43 49 1211.6APP, PSEN2, MAPT, PDGFRB
30methionine439.5PDGFRB, MAPT, PSEN1
31oligonucleotide439.5PSEN1, PSEN2, PDGFRB, PDGFB
32cycloheximide439.5PSEN1, PSEN2, MAPT, PDGFB
33cholesterol43 28 24 1212.4APP, PSEN1, PSEN2, PDGFRB
34nmda43 2810.4MAPT, PSEN1, APP
35vegf439.4APP, PSEN2, PDGFRB, PDGFB
36arginine439.3SLC20A2, MAPT, PSEN1, APP
37glucose439.3PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
38alanine439.3APP, PSEN1, MAPT, PDGFRB, SLC20A2
39h2o2439.2APP, PSEN1, PSEN2, MAPT, PDGFRB
40retinoic acid43 2410.2APP, PSEN1, PSEN2, MAPT, PDGFRB
41aspartate439.1TYROBP, APP, PSEN1, PSEN2, MAPT
42threonine438.9PSEN1, MAPT, PDGFRB, TRPM6
43glutamate438.8MAPT, PSEN2, PSEN1, APP
44serine438.2TRPM6, APP, PSEN1, PSEN2, MAPT, PDGFRB

GO Terms for genes affiliated with Basal Ganglia Calcification

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.8PDGFB, APP
2ciliary rootletGO:00352539.7PSEN2, PSEN1, APP
3dendritic shaftGO:00431989.6PSEN2, PSEN1, APP
4neuromuscular junctionGO:00315949.6APP, PSEN1, PSEN2
5growth coneGO:00304269.4PSEN1, PSEN2, MAPT
6axonGO:00304249.3APP, PSEN1, PSEN2, MAPT
7apical plasma membraneGO:00163249.1PSEN1, PSEN2, PDGFRB, TRPM6
8cell surfaceGO:00099869.0TYROBP, APP, PSEN1, PSEN2, PDGFB
9integral component of plasma membraneGO:00058878.5SLC20A2, PSEN2, PSEN1, APP, TYROBP
10plasma membraneGO:00058867.5TYROBP, APP, PSEN2, MAPT, PDGFRB, SLC20A2

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:007226210.4PDGFRB, PDGFB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:003579310.3PDGFRB, PDGFB
3positive regulation of DNA biosynthetic processGO:0200057310.3PDGFRB, PDGFB
4positive regulation of calcium ion importGO:009028010.3PDGFRB, PDGFB
5positive regulation of chemotaxisGO:005092110.3PDGFRB, PDGFB
6positive regulation of smooth muscle cell migrationGO:001491110.3PDGFB, PDGFRB
7positive regulation of coagulationGO:005082010.3PSEN2, PSEN1
8myeloid leukocyte differentiationGO:000257310.3PSEN1, PSEN2
9endoplasmic reticulum calcium ion homeostasisGO:003246910.3PSEN2, PSEN1
10amyloid precursor protein catabolic processGO:004298710.3PSEN2, PSEN1
11beta-amyloid metabolic processGO:005043510.2PSEN2, PSEN1
12anagenGO:004264010.2PSEN1, PSEN2
13positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.2PDGFB, PDGFRB
14dorsal/ventral neural tube patterningGO:002190410.2PSEN1, PSEN2
15regulation of epidermal growth factor-activated receptor activityGO:000717610.2APP, PSEN2
16smooth endoplasmic reticulum calcium ion homeostasisGO:005156310.2APP, PSEN1
17brain morphogenesisGO:004885410.2PSEN1, PSEN2
18hematopoietic progenitor cell differentiationGO:000224410.2PSEN1, PSEN2
19platelet-derived growth factor receptor signaling pathwayGO:004800810.2PDGFB, PDGFRB
20cell fate specificationGO:000170810.2PSEN1, PSEN2
21positive regulation of reactive oxygen species metabolic processGO:0200037910.2PDGFB, PDGFRB
22T cell activation involved in immune responseGO:000228610.2PSEN2, PSEN1
23membrane protein ectodomain proteolysisGO:000650910.2PSEN1, PSEN2
24positive regulation of mitosisGO:004584010.2PDGFRB, PDGFB
25Notch receptor processingGO:000722010.2PSEN2, PSEN1
26skeletal system morphogenesisGO:004870510.2PSEN1, PDGFRB
27axon cargo transportGO:000808810.1APP, MAPT
28regulation of protein bindingGO:004339310.1PSEN1, APP
29protein processingGO:001648510.1PSEN1, PSEN2
30regulation of synaptic plasticityGO:004816710.1PSEN2, PSEN1
31positive regulation of MAP kinase activityGO:004340610.0PDGFB, PDGFRB, PSEN1
32thymus developmentGO:004853810.0PSEN2, PSEN1
33neuron apoptotic processGO:005140210.0PSEN1, APP
34positive regulation of smooth muscle cell proliferationGO:00486619.9PDGFRB, PDGFB
35somitogenesisGO:00017569.9PSEN2, PSEN1
36memoryGO:00076139.9PSEN2, PSEN1
37Notch signaling pathwayGO:00072199.8PSEN2, PSEN1, APP
38embryonic limb morphogenesisGO:00303269.8PSEN1, PSEN2
39positive regulation of catalytic activityGO:00430859.7CTAGE5, PSEN2, PSEN1
40neurotrophin TRK receptor signaling pathwayGO:00480119.7PSEN2, PDGFRB, PDGFB
41cell chemotaxisGO:00603269.6PDGFB, PDGFRB
42innate immune responseGO:00450879.1TYROBP, APP, PDGFRB, PDGFB, TREM2

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.0PDGFB, PDGFRB
2platelet-derived growth factor receptor bindingGO:000516110.0PDGFB, PDGFRB
3aspartic-type endopeptidase activityGO:00041909.9PSEN2, PSEN1
4endopeptidase activityGO:00041759.8PSEN2, PSEN1
5receptor bindingGO:00051029.1TYROBP, APP, PDGFRB
6protein bindingGO:00055157.6TRPM6, PDGFB, PDGFRB, MAPT, PSEN2, PSEN1

Products for genes affiliated with Basal Ganglia Calcification

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Sources for Basal Ganglia Calcification

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet