BRIC2
MCID: CHL118
MIFTS: 44

Cholestasis, Benign Recurrent Intrahepatic, 2 (BRIC2)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic, 2:

Name: Cholestasis, Benign Recurrent Intrahepatic, 2 58 76 13
Benign Recurrent Intrahepatic Cholestasis 2 12 54 30 6 15
Bric2 58 12 54 60 76
Cholestasis, Benign Recurrent Intrahepatic 2 54 74
Bric Type 2 12 60
Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 41
Benign Recurrent Intrahepatic Cholestasis Type 2 60
Recurrent Familial Intrahepatic Cholestasis 2 54
Mild Abcb11 Deficiency 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
onset in first 2 decades
precipitating factors include viral illness and pregnancy
allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, )


HPO:

33
cholestasis, benign recurrent intrahepatic, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070232
OMIM 58 605479
MeSH 45 D002780
MESH via Orphanet 46 C535931
ICD10 via Orphanet 35 K83.1
UMLS via Orphanet 75 C2608083 C3489789
Orphanet 60 ORPHA99961
MedGen 43 C2608083

Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot : 76 Cholestasis, benign recurrent intrahepatic, 2: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

MalaCards based summary : Cholestasis, Benign Recurrent Intrahepatic, 2, also known as benign recurrent intrahepatic cholestasis 2, is related to cholestasis, benign recurrent intrahepatic, 1 and cholestasis, progressive familial intrahepatic, 2. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Human cytomegalovirus infection. Affiliated tissues include liver and testes, and related phenotypes are intrahepatic cholestasis and hepatomegaly

Disease Ontology : 12 A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31.

OMIM : 58 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically (van Mil et al., 2004). (605479)

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

Diseases in the Progressive Familial Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 1 31.9 ABCB11 ATP8B1
2 cholestasis, progressive familial intrahepatic, 2 30.9 ABCB11 ATP8B1
3 cholestasis 10.4
4 atp8b1 deficiency 10.2 ABCB11 ATP8B1
5 cholestasis, progressive familial intrahepatic, 4 10.2 ABCB11 ATP8B1
6 cholestasis, progressive familial intrahepatic, 3 10.2 ABCB11 ATP8B1
7 alagille syndrome 1 10.2 ABCB11 ATP8B1
8 cholestasis, progressive familial intrahepatic, 1 10.2 ABCB11 ATP8B1
9 progressive familial intrahepatic cholestasis 10.1 ABCB11 ATP8B1
10 bile duct disease 10.1 ABCB11 ATP8B1
11 biliary tract disease 10.1 ABCB11 ATP8B1
12 caspase 8 deficiency 9.9 CASP10 CASP8
13 chronic mountain sickness 9.9 CASP8 CASP9
14 cardiomyopathy, familial hypertrophic, 1 9.9 CASP1 CASP10
15 juvenile amyotrophic lateral sclerosis 9.9 CASP10 CASP8
16 dystrophinopathies 9.9 CASP8 CASP9
17 cowpox 9.8 CASP1 CASP8
18 chlamydia 9.8 CASP1 MCL1
19 lymphoma, non-hodgkin, familial 9.5 CASP10 CASP8 MCL1
20 myeloma, multiple 9.5 CASP8 CASP9 MCL1
21 cervical cancer 9.1 CASP8 CASP9 MCL1

Graphical network of the top 20 diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2:



Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 2

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intrahepatic cholestasis 33 occasional (7.5%) HP:0001406
2 hepatomegaly 33 HP:0002240
3 pruritus 33 HP:0000989
4 cholelithiasis 33 HP:0001081
5 jaundice 33 HP:0000952
6 conjugated hyperbilirubinemia 33 HP:0002908
7 elevated alkaline phosphatase 33 HP:0003155

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
hepatomegaly
cholelithiasis
jaundice, episodic
progression to end-stage liver disease does not occur
intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life
more
Skin Nails Hair Skin:
jaundice, episodic
pruritus, episodic

Laboratory Abnormalities:
conjugated hyperbilirubinemia
increased alkaline phosphatase
normal or mildly increased serum gamma-ggt
increased serum bile acids

Clinical features from OMIM:

605479

GenomeRNAi Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 ATP8B1 CASP1 CASP8 CASP9 MCL1 TRADD
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 ATP8B1 CASP1 CASP8 CASP9 MCL1 TRADD

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 2

Search Clinical Trials , NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic, 2:

# Genetic test Affiliating Genes
1 Benign Recurrent Intrahepatic Cholestasis 2 30 ABCB11

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards organs/tissues related to Cholestasis, Benign Recurrent Intrahepatic, 2:

42
Liver, Testes

Publications for Cholestasis, Benign Recurrent Intrahepatic, 2

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 2:

# Title Authors Year
1
Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. ( 30899697 )
2019
2
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. ( 29404523 )
2018
3
Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. ( 26223708 )
2016
4
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. ( 17947449 )
2008
5
Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. ( 18049162 )
2007
6
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. ( 16290310 )
2006
7
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. ( 16039748 )
2005
8
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ( 15300568 )
2004
9
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. ( 10579978 )
1999
10
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. ( 9806540 )
1998

Variations for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

76
# Symbol AA change Variation ID SNP ID
1 ABCB11 p.Glu297Gly VAR_010271 rs11568372
2 ABCB11 p.Glu186Gly VAR_030386 rs72551307
3 ABCB11 p.Arg432Thr VAR_030391 rs121908935
4 ABCB11 p.Ala570Thr VAR_030392 rs886043807
5 ABCB11 p.Thr923Pro VAR_030394 rs777469571
6 ABCB11 p.Ala926Pro VAR_030395 rs72549400
7 ABCB11 p.Arg1050Cys VAR_030396 rs72549398
8 ABCB11 p.Arg1128His VAR_030397 rs756220860

ClinVar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB11 NM_003742.4(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh37 Chromosome 2, 169847329: 169847329
2 ABCB11 NM_003742.4(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh38 Chromosome 2, 168990819: 168990819
3 ABCB11 NM_003742.4(ABCB11): c.1295G> C (p.Arg432Thr) single nucleotide variant Pathogenic rs121908935 GRCh37 Chromosome 2, 169833100: 169833100
4 ABCB11 NM_003742.4(ABCB11): c.1295G> C (p.Arg432Thr) single nucleotide variant Pathogenic rs121908935 GRCh38 Chromosome 2, 168976590: 168976590
5 ABCB11 NM_003742.4(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh37 Chromosome 2, 169825008: 169825008
6 ABCB11 NM_003742.4(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh38 Chromosome 2, 168968498: 168968498
7 ABCB11 NM_003742.4(ABCB11): c.908+1G> A single nucleotide variant Pathogenic rs147649016 GRCh37 Chromosome 2, 169847310: 169847310
8 ABCB11 NM_003742.4(ABCB11): c.908+1G> A single nucleotide variant Pathogenic rs147649016 GRCh38 Chromosome 2, 168990800: 168990800
9 ABCB11 NM_003742.4(ABCB11): c.2125G> A (p.Glu709Lys) single nucleotide variant Uncertain significance rs201800225 GRCh37 Chromosome 2, 169820769: 169820769
10 ABCB11 NM_003742.4(ABCB11): c.2125G> A (p.Glu709Lys) single nucleotide variant Uncertain significance rs201800225 GRCh38 Chromosome 2, 168964259: 168964259
11 ABCB11 NM_003742.4(ABCB11): c.3692G> A (p.Arg1231Gln) single nucleotide variant Pathogenic rs758069019 GRCh37 Chromosome 2, 169781240: 169781240
12 ABCB11 NM_003742.4(ABCB11): c.3692G> A (p.Arg1231Gln) single nucleotide variant Pathogenic rs758069019 GRCh38 Chromosome 2, 168924730: 168924730
13 ABCB11 NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs) deletion Pathogenic rs886043703 GRCh37 Chromosome 2, 169833124: 169833124
14 ABCB11 NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs) deletion Pathogenic rs886043703 GRCh38 Chromosome 2, 168976614: 168976614
15 ABCB11 NM_003742.4(ABCB11): c.1069G> T (p.Gly357Ter) single nucleotide variant Pathogenic rs886043935 GRCh37 Chromosome 2, 169842634: 169842634
16 ABCB11 NM_003742.4(ABCB11): c.1069G> T (p.Gly357Ter) single nucleotide variant Pathogenic rs886043935 GRCh38 Chromosome 2, 168986124: 168986124
17 ABCB11 NM_003742.4(ABCB11): c.1445A> G (p.Asp482Gly) single nucleotide variant Pathogenic rs72549402 GRCh37 Chromosome 2, 169828550: 169828550
18 ABCB11 NM_003742.4(ABCB11): c.1445A> G (p.Asp482Gly) single nucleotide variant Pathogenic rs72549402 GRCh38 Chromosome 2, 168972040: 168972040
19 ABCB11 NM_003742.4(ABCB11): c.3457C> T (p.Arg1153Cys) single nucleotide variant Pathogenic rs72549395 GRCh37 Chromosome 2, 169783827: 169783827
20 ABCB11 NM_003742.4(ABCB11): c.3457C> T (p.Arg1153Cys) single nucleotide variant Pathogenic rs72549395 GRCh38 Chromosome 2, 168927317: 168927317
21 ABCB11 NM_003742.4(ABCB11): c.1460G> A (p.Arg487His) single nucleotide variant Conflicting interpretations of pathogenicity rs188824058 GRCh37 Chromosome 2, 169828535: 169828535
22 ABCB11 NM_003742.4(ABCB11): c.1460G> A (p.Arg487His) single nucleotide variant Conflicting interpretations of pathogenicity rs188824058 GRCh38 Chromosome 2, 168972025: 168972025
23 ABCB11 NM_003742.4(ABCB11): c.2296G> A (p.Gly766Arg) single nucleotide variant Pathogenic rs763782349 GRCh37 Chromosome 2, 169814521: 169814521
24 ABCB11 NM_003742.4(ABCB11): c.2296G> A (p.Gly766Arg) single nucleotide variant Pathogenic rs763782349 GRCh38 Chromosome 2, 168958011: 168958011
25 ABCB11 NM_003742.4(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh37 Chromosome 2, 169801435: 169801435
26 ABCB11 NM_003742.4(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh38 Chromosome 2, 168944925: 168944925
27 ABCB11 NM_003742.4(ABCB11): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs774824767 GRCh37 Chromosome 2, 169830251: 169830251
28 ABCB11 NM_003742.4(ABCB11): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs774824767 GRCh38 Chromosome 2, 168973741: 168973741
29 ABCB11 NM_003742.3(ABCB11): c.3326T> C (p.Leu1109Pro) single nucleotide variant Pathogenic rs1553545883 GRCh38 Chromosome 2, 168930750: 168930750
30 ABCB11 NM_003742.3(ABCB11): c.3326T> C (p.Leu1109Pro) single nucleotide variant Pathogenic rs1553545883 GRCh37 Chromosome 2, 169787260: 169787260

Expression for Cholestasis, Benign Recurrent Intrahepatic, 2

Search GEO for disease gene expression data for Cholestasis, Benign Recurrent Intrahepatic, 2.

Pathways for Cholestasis, Benign Recurrent Intrahepatic, 2

Pathways related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 CASP8 CASP9 MCL1 TRADD
2
Show member pathways
12.76 CASP10 CASP8 CASP9 TRADD
3
Show member pathways
12.76 CASP1 CASP10 CASP8 CASP9 TRADD
4
Show member pathways
12.73 CASP1 CASP10 CASP8 CASP9 TRADD
5 12.61 CASP1 CASP8 CASP9 TRADD
6
Show member pathways
12.6 CASP1 CASP10 CASP8 TRADD
7
Show member pathways
12.54 CASP1 CASP10 CASP8 CASP9
8
Show member pathways
12.52 CASP8 CASP9 MCL1 TRADD
9
Show member pathways
12.39 CASP1 CASP10 CASP8 CASP9
10
Show member pathways
12.33 CASP1 CASP10 CASP8 CASP9 TRADD
11
Show member pathways
12.33 CASP1 CASP10 CASP8 CASP9 MCL1 TRADD
12
Show member pathways
12.27 CASP10 CASP8 CASP9
13
Show member pathways
12.18 CASP1 CASP10 CASP8 CASP9 TRADD
14
Show member pathways
12.17 CASP10 CASP8 TRADD
15
Show member pathways
12.14 CASP10 CASP8 CASP9 TRADD
16
Show member pathways
12.06 CASP1 CASP8 TRADD
17 12.03 CASP10 CASP8 CASP9 TRADD
18
Show member pathways
12.03 CASP1 CASP10 CASP8 CASP9
19 12.01 CASP8 CASP9 TRADD
20
Show member pathways
11.98 CASP8 CASP9 TRADD
21 11.94 CASP1 CASP10 MCL1
22
Show member pathways
11.91 CASP1 CASP10 CASP8 CASP9 TRADD
23
Show member pathways
11.85 CASP1 CASP8 CASP9
24 11.83 CASP10 CASP8 TRADD
25 11.82 CASP1 CASP10 CASP8 CASP9
26
Show member pathways
11.77 CASP1 CASP10 CASP8 CASP9
27 11.72 CASP1 CASP10 CASP8 CASP9
28
Show member pathways
11.71 CASP8 CASP9 MCL1
29
Show member pathways
11.69 CASP10 CASP8 CASP9
30 11.62 CASP1 CASP8 CASP9 MCL1 TRADD
31 11.55 CASP8 CASP9
32 11.5 CASP8 CASP9
33 11.47 CASP10 CASP8 TRADD
34 11.46 CASP1 CASP8 CASP9
35
Show member pathways
11.37 CASP8 CASP9
36 11.34 CASP8 CASP9
37 11.32 CASP8 TRADD
38 11.31 CASP8 CASP9
39
Show member pathways
11.31 CASP8 CASP9 MCL1
40 11.31 CASP1 CASP8 CASP9
41 11.27 CASP10 CASP8 CASP9
42
Show member pathways
11.11 CASP1 CASP10 CASP8 CASP9 TRADD

GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 2

Cellular components related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.56 CASP1 CASP8 CASP9 TRADD
2 death-inducing signaling complex GO:0031264 9.16 CASP8 TRADD
3 CD95 death-inducing signaling complex GO:0031265 8.96 CASP10 CASP8
4 ripoptosome GO:0097342 8.62 CASP10 CASP8

Biological processes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.84 CASP1 CASP10 CASP8 CASP9
2 apoptotic process GO:0006915 9.63 CASP1 CASP10 CASP8 CASP9 MCL1 TRADD
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.62 CASP1 CASP10 CASP8 TRADD
4 cellular response to organic cyclic compound GO:0071407 9.59 CASP8 CASP9
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.58 CASP9 MCL1
6 extrinsic apoptotic signaling pathway GO:0097191 9.58 CASP8 TRADD
7 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.57 CASP8 TRADD
8 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.56 CASP9 MCL1
9 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.55 CASP8 TRADD
10 apoptotic signaling pathway GO:0097190 9.54 CASP1 CASP10 CASP8
11 response to antibiotic GO:0046677 9.52 CASP8 CASP9
12 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.51 CASP8 TRADD
13 bile acid and bile salt transport GO:0015721 9.49 ABCB11 ATP8B1
14 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.48 CASP8 TRADD
15 regulation of response to DNA damage stimulus GO:2001020 9.46 CASP9 MCL1
16 death-inducing signaling complex assembly GO:0071550 9.43 CASP8 TRADD
17 execution phase of apoptosis GO:0097194 9.43 CASP1 CASP10 CASP8
18 response to cobalt ion GO:0032025 9.4 CASP8 CASP9
19 regulation of apoptotic process GO:0042981 9.35 CASP1 CASP10 CASP8 CASP9 MCL1
20 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.02 CASP1 CASP10 CASP8 CASP9 TRADD

Molecular functions related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.73 CASP1 CASP10 CASP8 CASP9
2 peptidase activity GO:0008233 9.67 CASP1 CASP10 CASP8 CASP9
3 cysteine-type peptidase activity GO:0008234 9.56 CASP1 CASP10 CASP8 CASP9
4 cysteine-type endopeptidase activity GO:0004197 9.46 CASP1 CASP10 CASP8 CASP9
5 tumor necrosis factor receptor binding GO:0005164 9.4 CASP8 TRADD
6 death effector domain binding GO:0035877 9.32 CASP10 CASP8
7 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.26 CASP1 CASP10 CASP8 CASP9
8 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 8.92 CASP1 CASP10 CASP8 CASP9

Sources for Cholestasis, Benign Recurrent Intrahepatic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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