PFBC
MCID: PRM175
MIFTS: 41

Primary Familial Brain Calcification (PFBC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Familial Brain Calcification

MalaCards integrated aliases for Primary Familial Brain Calcification:

Name: Primary Familial Brain Calcification 24 53 59 29
Idiopathic Basal Ganglia Calcification 1 53 29 6
Bilateral Striopallidodentate Calcinosis 53 59
Bspdc 53 59
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 53
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 53
Calcification, Basal Ganglia, Idiopathic, Type 1 40
Basal Ganglia Calcification, Idiopathic 13
Idiopathic Basal Ganglia Calcification 59
Ferrocalcinosis, Cerebrovascular 53
Cerebrovascular Ferrocalcinosis 59
Fahr's Syndrome 73
Pfbc 59

Characteristics:

Orphanet epidemiological data:

59
bilateral striopallidodentate calcinosis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

GeneReviews:

24
Penetrance Incomplete and age-related penetrance is reported in pfbc, but the factors that influence clinical manifestations are unknown. the degree of penetrance may depend on whether diagnosis is considered at an anatomic level (presence of calcifications in the brain) or at a clinical level (presence of clinical symptoms)...

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA1980
UMLS via Orphanet 74 C0393590
ICD10 via Orphanet 34 G23.8
UMLS 73 C0393590

Summaries for Primary Familial Brain Calcification

NIH Rare Diseases : 53 Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2, PDGFRB, and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.

MalaCards based summary : Primary Familial Brain Calcification, also known as idiopathic basal ganglia calcification 1, is related to basal ganglia calcification and basal ganglia calcification, idiopathic, 4, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Primary Familial Brain Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Development EGFR signaling via small GTPases and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain, liver and skin, and related phenotypes are seizures and cerebral calcification

GeneReviews: NBK1421

Related Diseases for Primary Familial Brain Calcification

Diseases related to Primary Familial Brain Calcification via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 basal ganglia calcification 31.3 PDGFB PDGFRB SLC20A2 XPR1
2 basal ganglia calcification, idiopathic, 4 12.8
3 basal ganglia calcification, idiopathic, childhood-onset 12.0
4 familial idiopathic basal ganglia calcification 11.8
5 basal ganglia calcification, idiopathic, 5 11.6
6 basal ganglia calcification, idiopathic, 2 11.4
7 basal ganglia calcification, idiopathic, 6 11.4
8 basal ganglia calcification, idiopathic, 1 11.3
9 calcinosis 10.8
10 hypoparathyroidism 10.3
11 schizophrenia 10.2
12 bipolar disorder 10.2
13 frontotemporal dementia 10.1
14 psoriasis 14, pustular 10.1
15 dementia 10.1
16 astrocytoma 10.1
17 dystonia 10.1
18 monoclonal gammopathy of uncertain significance 10.1
19 psoriasis 10.1
20 speech disorder 10.1
21 pustular psoriasis 10.1
22 frontotemporal dementia with parkinsonism-17 10.1
23 syncope 10.1
24 multiple sclerosis 10.0
25 dystonia 1, torsion, autosomal dominant 10.0
26 dystonia 12 10.0
27 supranuclear palsy, progressive, 1 10.0
28 diabetes mellitus 10.0
29 glomerulonephritis 10.0
30 spasmodic dystonia 10.0
31 impulse control disorder 10.0
32 membranoproliferative glomerulonephritis 10.0
33 mood disorder 10.0
34 organic mood syndrome 10.0
35 spasmodic dysphonia 10.0
36 paroxysmal choreoathetosis 10.0
37 early-onset generalized limb-onset dystonia 10.0
38 apraxia 9.8
39 epilepsy 9.8
40 focal epilepsy 9.8
41 dermatofibrosarcoma protuberans 9.7 PDGFB PDGFRB
42 basal ganglia disease 9.4 PDGFB PDGFRB SLC20A2 XPR1

Graphical network of the top 20 diseases related to Primary Familial Brain Calcification:



Diseases related to Primary Familial Brain Calcification

Symptoms & Phenotypes for Primary Familial Brain Calcification

Human phenotypes related to Primary Familial Brain Calcification:

59 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 Very frequent (99-80%)
2 cerebral calcification 59 Very frequent (99-80%)
3 hepatomegaly 59 Very frequent (99-80%)
4 corneal opacity 59 Frequent (79-30%)
5 microcephaly 59 Very frequent (99-80%)
6 intrauterine growth retardation 59 Very frequent (99-80%)
7 thrombocytopenia 59 Very frequent (99-80%)
8 ventriculomegaly 59 Very frequent (99-80%)
9 abnormality of neuronal migration 59 Very frequent (99-80%)
10 subcutaneous hemorrhage 59 Very frequent (99-80%)
11 abnormality of the liver 59 Frequent (79-30%)

UMLS symptoms related to Primary Familial Brain Calcification:


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

Drugs & Therapeutics for Primary Familial Brain Calcification

Search Clinical Trials , NIH Clinical Center for Primary Familial Brain Calcification

Genetic Tests for Primary Familial Brain Calcification

Genetic tests related to Primary Familial Brain Calcification:

# Genetic test Affiliating Genes
1 Idiopathic Basal Ganglia Calcification 1 29 PDGFB PDGFRB SLC20A2
2 Primary Familial Brain Calcification 29

Anatomical Context for Primary Familial Brain Calcification

MalaCards organs/tissues related to Primary Familial Brain Calcification:

41
Brain, Liver, Skin

Publications for Primary Familial Brain Calcification

Articles related to Primary Familial Brain Calcification:

(show all 36)
# Title Authors Year
1
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification. ( 29910000 )
2018
2
Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant. ( 29680161 )
2018
3
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. ( 29152850 )
2018
4
Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. ( 29448117 )
2018
5
Novel SLC20A2 mutation in primary familial brain calcification with disturbance of sustained phonation and orofacial apraxia. ( 29801865 )
2018
6
The Need for Consensus on Primary Familial Brain Calcification Nomenclature. ( 30045681 )
2018
7
A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain. ( 30460687 )
2018
8
Clinical Features of Primary Familial Brain Calcification in 17 Families. ( 30539916 )
2018
9
Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization. ( 28722801 )
2017
10
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2. ( 28936702 )
2017
11
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families. ( 28298627 )
2017
12
Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification. ( 28766044 )
2017
13
Clinical and radiological diversity in genetically confirmed primary familial brain calcification. ( 28935882 )
2017
14
Microangiopathy in primary familial brain calcification: Evidence from skin biopsies. ( 28210710 )
2017
15
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. ( 27726124 )
2016
16
XPR1 mutations are a rare cause of primary familial brain calcification. ( 27230854 )
2016
17
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. ( 26860091 )
2016
18
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification. ( 26723961 )
2016
19
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. ( 27671522 )
2016
20
Primary familial brain calcification in the IBGC2 kindred: All linkage roads lead to SLC20A2. ( 27862320 )
2016
21
Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification. ( 27984190 )
2016
22
XPR1 Mutations: Another Cause of Primary Familial Brain Calcification. ( 30363484 )
2016
23
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. ( 25686319 )
2015
24
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. ( 25726928 )
2015
25
Primary familial brain calcification: genetic analysis and clinical spectrum. ( 26094947 )
2015
26
XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders. ( 26231937 )
2015
27
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. ( 25832657 )
2015
28
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. ( 25958344 )
2015
29
A new gene for primary familial brain calcification: The importance of phosphate homeostasis. ( 26195350 )
2015
30
Primary familial brain calcification: update on molecular genetics. ( 25686613 )
2015
31
Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification. ( 26599395 )
2015
32
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. ( 25938945 )
2015
33
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study. ( 25211641 )
2014
34
Primary familial brain calcification: Genetic analysis and clinical spectrum. ( 25284758 )
2014
35
An update on primary familial brain calcification. ( 24209445 )
2013
36
Primary Familial Brain Calcification ( 20301594 )
1993

Variations for Primary Familial Brain Calcification

ClinVar genetic disease variations for Primary Familial Brain 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 Primary Familial Brain Calcification

Search GEO for disease gene expression data for Primary Familial Brain Calcification.

Pathways for Primary Familial Brain Calcification

GO Terms for Primary Familial Brain Calcification

Cellular components related to Primary Familial Brain 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 Primary Familial Brain Calcification according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.58 PDGFB PDGFRB
2 phosphatidylinositol phosphorylation GO:0046854 9.57 PDGFB PDGFRB
3 cell chemotaxis GO:0060326 9.56 PDGFB PDGFRB
4 viral entry into host cell GO:0046718 9.55 SLC20A2 XPR1
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.54 PDGFB PDGFRB
6 positive regulation of MAP kinase activity GO:0043406 9.52 PDGFB PDGFRB
7 positive regulation of smooth muscle cell proliferation GO:0048661 9.51 PDGFB PDGFRB
8 positive regulation of fibroblast proliferation GO:0048146 9.49 PDGFB PDGFRB
9 platelet-derived growth factor receptor signaling pathway GO:0048008 9.48 PDGFB PDGFRB
10 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 PDGFB PDGFRB
11 positive regulation of reactive oxygen species metabolic process GO:2000379 9.43 PDGFB PDGFRB
12 positive regulation of mitotic nuclear division GO:0045840 9.4 PDGFB PDGFRB
13 positive regulation of smooth muscle cell migration GO:0014911 9.37 PDGFB PDGFRB
14 phosphate ion transmembrane transport GO:0035435 9.32 SLC20A2 XPR1
15 positive regulation of calcium ion import GO:0090280 9.26 PDGFB PDGFRB
16 positive regulation of DNA biosynthetic process GO:2000573 9.16 PDGFB PDGFRB
17 positive regulation of chemotaxis GO:0050921 8.96 PDGFB PDGFRB
18 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 Primary Familial Brain Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.32 PDGFB PDGFRB
2 virus receptor activity GO:0001618 9.26 SLC20A2 XPR1
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 PDGFB PDGFRB
4 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFB PDGFRB
5 platelet-derived growth factor binding GO:0048407 8.62 PDGFB PDGFRB

Sources for Primary Familial Brain 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
Content
Loading form....