IBGC1
MCID: BSL038
MIFTS: 36

Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 1

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 1:

Name: Basal Ganglia Calcification, Idiopathic, 1 58 76 13
Ibgc1 58 76
Bspdc 58 76
Basal Ganglia Calcification, Idiopathic, 3, Formerly; Ibgc3, Formerly 58
Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset 58
Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification 76
Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset 58
Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis 76
Basal Ganglia Calcification, Idiopathic, 3, Formerly 58
Striopallidodentate Calcinosis, Bilateral; Bspdc 58
Calcification, Basal Ganglia, Idiopathic, Type 1 41
Striopallidodentate Calcinosis, Bilateral 58
Bilateral Striopallidodentate Calcinosis 76
Idiopathic Basal Ganglia Calcification 3 76
Primary Familial Brain Calcification 76
Ferrocalcinosis, Cerebrovascular 58
Fahr Disease, Familial, Formerly 58
Ferrocalcinosis Cerebro Vascular 77
Cerebrovascular Ferrocalcinosis 76
Familial Fahr Disease 76
Ibgc3, Formerly 58
Fahr's Syndrome 74
Ibgc3 76
Pfbc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
adult onset (range 30 to 50 years)
asymptomatic younger patients show characteristic basal ganglia calcifications
see also a childhood-onset form


HPO:

33
basal ganglia calcification, idiopathic, 1:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Basal Ganglia Calcification, Idiopathic, 1

OMIM : 58 Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by Wang et al., 2012). Calcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans (Koller et al., 1979; Harrington et al., 1981; Forstl et al., 1992). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age (Geschwind et al., 1999). Forstl et al. (1992) found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification. (213600)

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 1, also known as ibgc1, is related to basal ganglia calcification, idiopathic, childhood-onset and cone-rod dystrophy and hearing loss 2, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Basal Ganglia Calcification, Idiopathic, 1 is SLC20A2 (Solute Carrier Family 20 Member 2). Affiliated tissues include brain, cortex and eye, and related phenotypes are seizures and cerebral calcification

NINDS : 55 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, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (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.

UniProtKB/Swiss-Prot : 76 Basal ganglia calcification, idiopathic, 1: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

Wikipedia : 77 Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia... more...

Related Diseases for Basal Ganglia Calcification, Idiopathic, 1

Graphical network of the top 20 diseases related to Basal Ganglia Calcification, Idiopathic, 1:



Diseases related to Basal Ganglia Calcification, Idiopathic, 1

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 1

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 1:

33 (show all 34)
# Description HPO Frequency HPO Source Accession
1 seizures 33 hallmark (90%) HP:0001250
2 cerebral calcification 33 hallmark (90%) HP:0002514
3 hepatomegaly 33 hallmark (90%) HP:0002240
4 microcephaly 33 hallmark (90%) HP:0000252
5 intrauterine growth retardation 33 hallmark (90%) HP:0001511
6 thrombocytopenia 33 hallmark (90%) HP:0001873
7 ventriculomegaly 33 hallmark (90%) HP:0002119
8 abnormality of neuronal migration 33 hallmark (90%) HP:0002269
9 subcutaneous hemorrhage 33 hallmark (90%) HP:0001933
10 corneal opacity 33 frequent (33%) HP:0007957
11 abnormal pyramidal sign 33 occasional (7.5%) HP:0007256
12 depressivity 33 HP:0000716
13 dysarthria 33 HP:0001260
14 gait disturbance 33 HP:0001288
15 tremor 33 HP:0001337
16 hyperreflexia 33 HP:0001347
17 chorea 33 HP:0002072
18 dystonia 33 HP:0001332
19 mask-like facies 33 HP:0000298
20 memory impairment 33 HP:0002354
21 rigidity 33 HP:0002063
22 psychosis 33 HP:0000709
23 mental deterioration 33 HP:0001268
24 dysdiadochokinesis 33 HP:0002075
25 bradykinesia 33 HP:0002067
26 urinary incontinence 33 HP:0000020
27 parkinsonism 33 HP:0001300
28 athetosis 33 HP:0002305
29 postural instability 33 HP:0002172
30 micrographia 33 HP:0031908
31 limb dysmetria 33 HP:0002406
32 basal ganglia calcification 33 HP:0002135
33 dense calcifications in the cerebellar dentate nucleus 33 HP:0002461
34 calcification of the small brain vessels 33 HP:0002504

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
gait disturbance
tremor
hyperreflexia
chorea
more
Genitourinary Bladder:
urinary incontinence

Neurologic Behavioral Psychiatric Manifestations:
psychosis
depression
psychiatric disturbances

Laboratory Abnormalities:
normal serum calcium
normal serum phosphorus
normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration
mildly decreased phosphaturic response to pth administration has been reported in some cases

Clinical features from OMIM:

213600

UMLS symptoms related to Basal Ganglia Calcification, Idiopathic, 1:


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

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 1

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 1

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 1

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 1

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 1:

42
Brain, Cortex, Eye, Testes, Thalamus

Publications for Basal Ganglia Calcification, Idiopathic, 1

Articles related to Basal Ganglia Calcification, Idiopathic, 1:

(show all 28)
# Title Authors Year
1
Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). ( 29627011 )
2018
2
Bilateral striopallidodentate calcinosis associated with Sjögren's syndrome and IgDλ monoclonal gammopathy of undetermined significance. ( 29183861 )
2018
3
Anarthria in a patient with bilateral striopallidodentate calcinosis. ( 28879917 )
2017
4
Extensive bilateral striopallidodentate calcinosis: a 50 years history of hypoparathyroidism presenting like a parkinsonian syndrome. ( 27485169 )
2016
5
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. ( 23334463 )
2013
6
Secondary bilateral striopallidodentate calcinosis associated with generalized pustular psoriasis (Von Zumbusch). ( 24011318 )
2013
7
Bilateral striopallidodentate calcinosis secondary to postsurgical hypoparathyroidism. ( 24038292 )
2013
8
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. ( 22327515 )
2012
9
A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis. ( 23058742 )
2012
10
Bilateral striopallidodentate calcinosis presenting with psychiatric symptoms and speech disorders. ( 25286997 )
2012
11
Bilateral striopallidodentate calcinosis. A presentation in the form of facial dystonia and frontotemporal dementia. ( 21163223 )
2011
12
Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. ( 20552677 )
2010
13
Family with migraine and idiopathic bilateral striopallidodentate calcinosis. ( 19614694 )
2010
14
Bilateral striopallidodentate calcinosis with paroxysmal kinesigenic dyskinesia. ( 20682203 )
2010
15
Bilateral striopallidodentate calcinosis (Fahr's syndrome): an unusual cause of syncope. ( 21048559 )
2010
16
Bilateral striopallidodentate calcinosis (Fahr's disease). ( 19579751 )
2009
17
Sonographic detection of bilateral striopallidodentate calcinosis. ( 19242648 )
2009
18
Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease"). ( 17917073 )
2007
19
Analysis of Candidate Genes at the IBGC1 Locus Associated with Idiopathic Basal Ganglia Calcification ("Fahr" Disease'). ( 29349717 )
2007
20
Astrocytoma in bilateral striopallidodentate calcinosis. ( 15087117 )
2004
21
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). ( 15596772 )
2004
22
Transient parkinsonism in bilateral striopallidodentate calcinosis. ( 13679129 )
2003
23
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. ( 11810290 )
2002
24
Imaging of bilateral striopallidodentate calcinosis. ( 12352115 )
2002
25
Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. ( 11295778 )
2001
26
Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis. ( 11344012 )
2001
27
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). ( 10441584 )
1999
28
Bilateral striopallidodentate calcinosis: cerebrospinal fluid, imaging, and electrophysiological studies. ( 1586138 )
1992

Variations for Basal Ganglia Calcification, Idiopathic, 1

UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 1:

76 (show all 17)
# Symbol AA change Variation ID SNP ID
1 SLC20A2 p.Gly498Arg VAR_067546
2 SLC20A2 p.Glu575Lys VAR_067547 rs387906653
3 SLC20A2 p.Thr595Met VAR_067548 rs387906654
4 SLC20A2 p.Ser601Leu VAR_067549 rs387906652
5 SLC20A2 p.Ser601Trp VAR_067550 rs387906652
6 SLC20A2 p.Ile11Leu VAR_072255 rs201836672
7 SLC20A2 p.Asp28Asn VAR_072256
8 SLC20A2 p.Ala51Val VAR_072257
9 SLC20A2 p.Leu62Pro VAR_072258
10 SLC20A2 p.Arg71His VAR_072259
11 SLC20A2 p.Thr115Met VAR_072260 rs775911275
12 SLC20A2 p.Arg382Gln VAR_072261 rs200010919
13 SLC20A2 p.Ser434Trp VAR_072262 rs135761593
14 SLC20A2 p.His502Gln VAR_072263
15 SLC20A2 p.Pro568Leu VAR_072264 rs763252801
16 SLC20A2 p.Ser637Arg VAR_072265
17 SLC20A2 p.Gly571Ser VAR_075398 rs138899274

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 1:

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 Likely pathogenic rs387906653 GRCh37 Chromosome 8, 42286347: 42286347
7 SLC20A2 NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys) single nucleotide variant Likely 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 GRCh38 Chromosome 8, 42416877: 42416877
22 SLC20A2 NM_006749.4(SLC20A2): c.*926C> T single nucleotide variant Likely benign rs575143642 GRCh37 Chromosome 8, 42274395: 42274395
23 SLC20A2 NM_006749.4(SLC20A2): c.*538C> T single nucleotide variant Uncertain significance rs746914329 GRCh38 Chromosome 8, 42417265: 42417265
24 SLC20A2 NM_006749.4(SLC20A2): c.*538C> T single nucleotide variant Uncertain significance rs746914329 GRCh37 Chromosome 8, 42274783: 42274783
25 SLC20A2 NM_006749.4(SLC20A2): c.*409A> G single nucleotide variant Likely benign rs190717111 GRCh38 Chromosome 8, 42417394: 42417394
26 SLC20A2 NM_006749.4(SLC20A2): c.*409A> G single nucleotide variant Likely benign rs190717111 GRCh37 Chromosome 8, 42274912: 42274912
27 SLC20A2 NM_006749.4(SLC20A2): c.*289A> C single nucleotide variant Uncertain significance rs892436898 GRCh38 Chromosome 8, 42417514: 42417514
28 SLC20A2 NM_006749.4(SLC20A2): c.*289A> C single nucleotide variant Uncertain significance rs892436898 GRCh37 Chromosome 8, 42275032: 42275032
29 SLC20A2 NM_006749.4(SLC20A2): c.*171G> A single nucleotide variant Uncertain significance rs908206225 GRCh38 Chromosome 8, 42417632: 42417632
30 SLC20A2 NM_006749.4(SLC20A2): c.*171G> A single nucleotide variant Uncertain significance rs908206225 GRCh37 Chromosome 8, 42275150: 42275150
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 GRCh38 Chromosome 8, 42465862: 42465862
46 SLC20A2 NM_006749.4(SLC20A2): c.345G> A (p.Thr115=) single nucleotide variant Likely benign rs34124953 GRCh37 Chromosome 8, 42323380: 42323380
47 SLC20A2 NM_006749.4(SLC20A2): c.290-13C> A single nucleotide variant Likely benign rs114824268 GRCh38 Chromosome 8, 42465930: 42465930
48 SLC20A2 NM_006749.4(SLC20A2): c.290-13C> A single nucleotide variant Likely benign rs114824268 GRCh37 Chromosome 8, 42323448: 42323448
49 SLC20A2 NM_006749.4(SLC20A2): c.-89A> G single nucleotide variant Likely benign rs185590768 GRCh38 Chromosome 8, 42472479: 42472479
50 SLC20A2 NM_006749.4(SLC20A2): c.-89A> G single nucleotide variant Likely benign rs185590768 GRCh37 Chromosome 8, 42329997: 42329997

Expression for Basal Ganglia Calcification, Idiopathic, 1

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