Congenital Bile Acid Synthesis Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNG002 MIFTS: 33	Congenital Bile Acid Synthesis Defect Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Congenital Bile Acid Synthesis Defect

MalaCards integrated aliases for Congenital Bile Acid Synthesis Defect:

Name: Congenital Bile Acid Synthesis Defect ¹² ³⁸ ⁶ ¹⁵ ¹⁷

Cholestasis with Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency ¹²

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency ¹²

Bile Acid Synthesis Defect, Congenital, 1 ⁷⁴

Cba ¹²

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases Rare diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Gastrointestinal diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the digestive system

Diseases of liver

Other diseases of liver

Other specified diseases of liver

External Ids:

Disease Ontology ¹² DOID:0050674

KEGG ³⁸ H00628

ICD10 ³⁴ K76.8

EFO ¹⁷ EFO_0009039

UMLS ⁷⁴ C1843116

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Summaries for Congenital Bile Acid Synthesis Defect

Disease Ontology : ¹² A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

MalaCards based summary : Congenital Bile Acid Synthesis Defect, also known as cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency, is related to bile acid synthesis defect, congenital, 3 and bile acid synthesis defect, congenital, 2, and has symptoms including diarrhea and icterus. An important gene associated with Congenital Bile Acid Synthesis Defect is AKR1D1 (Aldo-Keto Reductase Family 1 Member D1), and among its related pathways/superpathways are Primary bile acid biosynthesis and Steroid hormone biosynthesis. Affiliated tissues include liver, thyroid and b cells.

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Related Diseases for Congenital Bile Acid Synthesis Defect

Diseases in the Congenital Bile Acid Synthesis Defect family:

Bile Acid Synthesis Defect, Congenital, 4	Bile Acid Synthesis Defect, Congenital, 2
Bile Acid Synthesis Defect, Congenital, 1	Bile Acid Synthesis Defect, Congenital, 3
Bile Acid Synthesis Defect, Congenital, 5	Bile Acid Synthesis Defect, Congenital, 6

Diseases related to Congenital Bile Acid Synthesis Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Related Disease	Score	Top Affiliating Genes
1	bile acid synthesis defect, congenital, 3	33.5	AKR1D1 CYP7B1
2	bile acid synthesis defect, congenital, 2	12.6
3	bile acid synthesis defect, congenital, 1	12.4
4	bile acid synthesis defect, congenital, 4	12.2
5	bile acid synthesis defect, congenital, 5	12.2
6	bile acid synthesis defect, congenital, 6	12.2
7	cholestasis, progressive familial intrahepatic, 4	11.9
8	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
9	radin blood group antigen	10.2
10	thyroiditis	10.1
11	lymphomatous thyroiditis	10.1
12	hearing loss, noise-induced	10.1
13	exocrine pancreatic insufficiency	10.1
14	leukemia, chronic lymphocytic 2	10.0
15	leukemia, chronic lymphocytic	10.0
16	rheumatoid arthritis	10.0
17	diamond-blackfan anemia 2	10.0
18	malaria	10.0
19	arthritis	10.0
20	leukemia	10.0
21	lymphocytic leukemia	10.0
22	arteriosclerosis	10.0
23	peritonitis	10.0
24	toxoplasmosis	10.0
25	cytokine deficiency	10.0
26	homologous wasting disease	10.0
27	leukemia, b-cell, chronic	10.0
28	age-related hearing loss	10.0
29	alpha-methylacyl-coa racemase deficiency	10.0	AKR1D1 AMACR
30	autoimmune disease	9.8
31	colorectal cancer	9.8
32	diabetes mellitus, noninsulin-dependent	9.8
33	fibromuscular dysplasia	9.8
34	celiac disease 1	9.8
35	aging	9.8
36	horns in sheep	9.8
37	intervertebral disc disease	9.8
38	headache associated with sexual activity	9.8
39	cutaneous leishmaniasis	9.8
40	hemolytic anemia	9.8
41	spinal muscular atrophy	9.8
42	thrombotic thrombocytopenic purpura	9.8
43	sarcoma	9.8
44	cryptococcosis	9.8
45	chagas disease	9.8
46	lymphocytic choriomeningitis	9.8
47	pancytopenia	9.8
48	trichuriasis	9.8
49	carotid stenosis	9.8
50	congenital toxoplasmosis	9.8

Graphical network of the top 20 diseases related to Congenital Bile Acid Synthesis Defect:

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Symptoms & Phenotypes for Congenital Bile Acid Synthesis Defect

UMLS symptoms related to Congenital Bile Acid Synthesis Defect:

diarrhea, icterus

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Drugs & Therapeutics for Congenital Bile Acid Synthesis Defect

Search Clinical Trials , NIH Clinical Center for Congenital Bile Acid Synthesis Defect

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Genetic Tests for Congenital Bile Acid Synthesis Defect

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Anatomical Context for Congenital Bile Acid Synthesis Defect

MalaCards organs/tissues related to Congenital Bile Acid Synthesis Defect:

⁴²

Liver, Thyroid, B Cells

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Publications for Congenital Bile Acid Synthesis Defect

Articles related to Congenital Bile Acid Synthesis Defect:

#	Title	Authors	Year
1	[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene]. ( 28697823 )	Cheng Y...Song YZ	2017

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Genes for Congenital Bile Acid Synthesis Defect

Genes related to Congenital Bile Acid Synthesis Defect (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AKR1D1	Aldo-Keto Reductase Family 1 Member D1	Protein Coding	46.94	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
2	HSD3B7	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7	Protein Coding	43.67	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)
3	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	34.7	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
4	AMACR	Alpha-Methylacyl-CoA Racemase	Protein Coding	28.24	GeneCards inferred via : Disorders Variants (show sections)
5	ACOX2	Acyl-CoA Oxidase 2	Protein Coding	27.92	GeneCards inferred via : Disorders Variants (show sections)
6	ABCD3	ATP Binding Cassette Subfamily D Member 3	Protein Coding	18.43	GeneCards inferred via : Disorders (show sections)
7	CA2	Carbonic Anhydrase 2	Protein Coding	16.04	DISEASES inferred ¹⁵
8	ABCB6	ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)	Protein Coding	16.02	DISEASES inferred ¹⁵
9	CYP39A1	Cytochrome P450 Family 39 Subfamily A Member 1	Protein Coding	15.52	DISEASES inferred ¹⁵

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Variations for Congenital Bile Acid Synthesis Defect

ClinVar genetic disease variations for Congenital Bile Acid Synthesis Defect:

⁶ (show top 50) (show all 154)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CYP7B1	NM_004820.4(CYP7B1): c.1456C> T (p.Arg486Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116171274	GRCh37	Chromosome 8, 65509264: 65509264
2	CYP7B1	NM_004820.4(CYP7B1): c.1456C> T (p.Arg486Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116171274	GRCh38	Chromosome 8, 64596707: 64596707
3	CYP7B1	NM_004820.4(CYP7B1): c.56T> C (p.Leu19Pro)	single nucleotide variant	Benign/Likely benign	rs72554624	GRCh37	Chromosome 8, 65711089: 65711089
4	CYP7B1	NM_004820.4(CYP7B1): c.56T> C (p.Leu19Pro)	single nucleotide variant	Benign/Likely benign	rs72554624	GRCh38	Chromosome 8, 64798532: 64798532
5	CYP7B1	NM_004820.4(CYP7B1): c.204G> A (p.Arg68=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377119798	GRCh38	Chromosome 8, 64624458: 64624458
6	CYP7B1	NM_004820.4(CYP7B1): c.204G> A (p.Arg68=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377119798	GRCh37	Chromosome 8, 65537015: 65537015
7	AKR1D1	NM_005989.3(AKR1D1): c.856-10G> A	single nucleotide variant	Benign/Likely benign	rs17169518	GRCh38	Chromosome 7, 138113680: 138113680
8	AKR1D1	NM_005989.3(AKR1D1): c.856-10G> A	single nucleotide variant	Benign/Likely benign	rs17169518	GRCh37	Chromosome 7, 137798426: 137798426
9	AKR1D1	NM_005989.3(AKR1D1): c.*5A> C	single nucleotide variant	Benign	rs1872929	GRCh37	Chromosome 7, 137801413: 137801413
10	AKR1D1	NM_005989.3(AKR1D1): c.*5A> C	single nucleotide variant	Benign	rs1872929	GRCh38	Chromosome 7, 138116667: 138116667
11	CYP7B1	NM_004820.4(CYP7B1): c.260-5dupT	duplication	Conflicting interpretations of pathogenicity	rs8192896	GRCh37	Chromosome 8, 65528843: 65528843
12	CYP7B1	NM_004820.4(CYP7B1): c.260-5dupT	duplication	Conflicting interpretations of pathogenicity	rs8192896	GRCh38	Chromosome 8, 64616286: 64616286
13	CYP7B1	NM_004820.4(CYP7B1): c.125G> A (p.Arg42Lys)	single nucleotide variant	Uncertain significance	rs375384257	GRCh37	Chromosome 8, 65537094: 65537094
14	CYP7B1	NM_004820.4(CYP7B1): c.125G> A (p.Arg42Lys)	single nucleotide variant	Uncertain significance	rs375384257	GRCh38	Chromosome 8, 64624537: 64624537
15	AKR1D1	NM_005989.3(AKR1D1): c.380C> T (p.Pro127Leu)	single nucleotide variant	Uncertain significance	rs140421486	GRCh37	Chromosome 7, 137782613: 137782613
16	AKR1D1	NM_005989.3(AKR1D1): c.380C> T (p.Pro127Leu)	single nucleotide variant	Uncertain significance	rs140421486	GRCh38	Chromosome 7, 138097867: 138097867
17	AKR1D1	NM_005989.3(AKR1D1): c.*1274A> G	single nucleotide variant	Benign	rs11766258	GRCh38	Chromosome 7, 138117936: 138117936
18	AKR1D1	NM_005989.3(AKR1D1): c.*1363A> G	single nucleotide variant	Uncertain significance	rs2465921	GRCh37	Chromosome 7, 137802771: 137802771
19	AKR1D1	NM_005989.3(AKR1D1): c.*1363A> G	single nucleotide variant	Uncertain significance	rs2465921	GRCh38	Chromosome 7, 138118025: 138118025
20	AKR1D1	NM_005989.3(AKR1D1): c.262-7C> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144365681	GRCh37	Chromosome 7, 137776507: 137776507
21	AKR1D1	NM_005989.3(AKR1D1): c.262-7C> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144365681	GRCh38	Chromosome 7, 138091761: 138091761
22	AKR1D1	NM_005989.3(AKR1D1): c.*1091C> T	single nucleotide variant	Uncertain significance	rs886062009	GRCh37	Chromosome 7, 137802499: 137802499
23	AKR1D1	NM_005989.3(AKR1D1): c.*1091C> T	single nucleotide variant	Uncertain significance	rs886062009	GRCh38	Chromosome 7, 138117753: 138117753
24	AKR1D1	NM_005989.3(AKR1D1): c.*1139G> C	single nucleotide variant	Likely benign	rs566511122	GRCh37	Chromosome 7, 137802547: 137802547
25	AKR1D1	NM_005989.3(AKR1D1): c.*1139G> C	single nucleotide variant	Likely benign	rs566511122	GRCh38	Chromosome 7, 138117801: 138117801
26	AKR1D1	NM_005989.3(AKR1D1): c.*1151A> G	single nucleotide variant	Uncertain significance	rs548914228	GRCh37	Chromosome 7, 137802559: 137802559
27	AKR1D1	NM_005989.3(AKR1D1): c.*1151A> G	single nucleotide variant	Uncertain significance	rs548914228	GRCh38	Chromosome 7, 138117813: 138117813
28	AKR1D1	NM_005989.3(AKR1D1): c.*1274A> G	single nucleotide variant	Benign	rs11766258	GRCh37	Chromosome 7, 137802682: 137802682
29	AKR1D1	NM_005989.3(AKR1D1): c.*36C> T	single nucleotide variant	Benign	rs1872930	GRCh37	Chromosome 7, 137801444: 137801444
30	AKR1D1	NM_005989.3(AKR1D1): c.*36C> T	single nucleotide variant	Benign	rs1872930	GRCh38	Chromosome 7, 138116698: 138116698
31	AKR1D1	NM_005989.3(AKR1D1): c.*58G> C	single nucleotide variant	Uncertain significance	rs80147006	GRCh37	Chromosome 7, 137801466: 137801466
32	AKR1D1	NM_005989.3(AKR1D1): c.*58G> C	single nucleotide variant	Uncertain significance	rs80147006	GRCh38	Chromosome 7, 138116720: 138116720
33	AKR1D1	NM_005989.3(AKR1D1): c.*417A> G	single nucleotide variant	Uncertain significance	rs151234162	GRCh37	Chromosome 7, 137801825: 137801825
34	AKR1D1	NM_005989.3(AKR1D1): c.*417A> G	single nucleotide variant	Uncertain significance	rs151234162	GRCh38	Chromosome 7, 138117079: 138117079
35	AKR1D1	NM_005989.3(AKR1D1): c.*507G> A	single nucleotide variant	Benign	rs7780066	GRCh37	Chromosome 7, 137801915: 137801915
36	AKR1D1	NM_005989.3(AKR1D1): c.*507G> A	single nucleotide variant	Benign	rs7780066	GRCh38	Chromosome 7, 138117169: 138117169
37	AKR1D1	NM_005989.3(AKR1D1): c.*1163T> C	single nucleotide variant	Benign	rs11763063	GRCh37	Chromosome 7, 137802571: 137802571
38	AKR1D1	NM_005989.3(AKR1D1): c.*1163T> C	single nucleotide variant	Benign	rs11763063	GRCh38	Chromosome 7, 138117825: 138117825
39	AKR1D1	NM_005989.3(AKR1D1): c.*1173A> T	single nucleotide variant	Uncertain significance	rs111628978	GRCh37	Chromosome 7, 137802581: 137802581
40	AKR1D1	NM_005989.3(AKR1D1): c.*1173A> T	single nucleotide variant	Uncertain significance	rs111628978	GRCh38	Chromosome 7, 138117835: 138117835
41	AKR1D1	NM_005989.3(AKR1D1): c.*1214A> G	single nucleotide variant	Uncertain significance	rs758246977	GRCh37	Chromosome 7, 137802622: 137802622
42	AKR1D1	NM_005989.3(AKR1D1): c.*1214A> G	single nucleotide variant	Uncertain significance	rs758246977	GRCh38	Chromosome 7, 138117876: 138117876
43	AKR1D1	NM_005989.3(AKR1D1): c.*1282G> A	single nucleotide variant	Uncertain significance	rs534922267	GRCh37	Chromosome 7, 137802690: 137802690
44	AKR1D1	NM_005989.3(AKR1D1): c.*1282G> A	single nucleotide variant	Uncertain significance	rs534922267	GRCh38	Chromosome 7, 138117944: 138117944
45	AKR1D1	NM_005989.3(AKR1D1): c.*1288A> C	single nucleotide variant	Uncertain significance	rs554615032	GRCh37	Chromosome 7, 137802696: 137802696
46	AKR1D1	NM_005989.3(AKR1D1): c.*1288A> C	single nucleotide variant	Uncertain significance	rs554615032	GRCh38	Chromosome 7, 138117950: 138117950
47	AKR1D1	NM_005989.3(AKR1D1): c.*1298A> G	single nucleotide variant	Uncertain significance	rs886062011	GRCh37	Chromosome 7, 137802706: 137802706
48	AKR1D1	NM_005989.3(AKR1D1): c.*1298A> G	single nucleotide variant	Uncertain significance	rs886062011	GRCh38	Chromosome 7, 138117960: 138117960
49	AKR1D1	NM_005989.3(AKR1D1): c.*1311A> C	single nucleotide variant	Likely benign	rs188138947	GRCh37	Chromosome 7, 137802719: 137802719
50	AKR1D1	NM_005989.3(AKR1D1): c.*1311A> C	single nucleotide variant	Likely benign	rs188138947	GRCh38	Chromosome 7, 138117973: 138117973

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Expression for Congenital Bile Acid Synthesis Defect

Search GEO for disease gene expression data for Congenital Bile Acid Synthesis Defect.

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Pathways for Congenital Bile Acid Synthesis Defect

Pathways related to Congenital Bile Acid Synthesis Defect according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Primary bile acid biosynthesis	hsa00120
2	Steroid hormone biosynthesis	hsa00140
3	Peroxisome	hsa04146

Pathways related to Congenital Bile Acid Synthesis Defect according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁷ Show member pathways Metabolic pathways ³⁸ Metabolism of lipids and lipoproteins ⁶⁷	13.35	ACOX2 AKR1D1 AMACR CA2 CYP39A1 CYP7B1
2	Synthesis of bile acids and bile salts ⁶⁷ Show member pathways Bile acid and bile salt metabolism ⁶⁷ bile acid biosynthesis, neutral pathway ¹ Primary bile acid biosynthesis ³⁸ Recycling of bile acids and salts ⁶⁷ Synthesis of bile acids and bile salts via 24-hydroxycholesterol ⁶⁷ Synthesis of bile acids and bile salts via 27-hydroxycholesterol ⁶⁷ Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol ⁶⁷	11.34	ACOX2 AKR1D1 AMACR CYP39A1 CYP7B1 HSD3B7
3	Steroid hormone biosynthesis ³⁸ Show member pathways allopregnanolone biosynthesis ¹	11.14	AKR1D1 CYP7B1
4	Peroxisome ³⁸	11.05	ABCD3 ACOX2 AMACR
5	Peroxisomal lipid metabolism ⁶⁷ Show member pathways Alpha-oxidation of phytanate ⁶⁷ Beta-oxidation of pristanoyl-CoA ⁶⁷ Beta-oxidation of very long chain fatty acids ⁶⁷ fatty acid alpha-oxidation ¹	10.98	ACOX2 AMACR

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GO Terms for Congenital Bile Acid Synthesis Defect

Cellular components related to Congenital Bile Acid Synthesis Defect according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum membrane	GO:0005789	9.56	ABCB6 CYP39A1 CYP7B1 HSD3B7
2	intracellular membrane-bounded organelle	GO:0043231	9.35	ABCD3 ACOX2 AMACR CYP39A1 CYP7B1
3	peroxisome	GO:0005777	9.33	ABCD3 ACOX2 AMACR
4	organelle membrane	GO:0031090	9.32	CYP39A1 CYP7B1
5	peroxisomal matrix	GO:0005782	8.8	ABCD3 ACOX2 AMACR

Biological processes related to Congenital Bile Acid Synthesis Defect according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.73	ACOX2 AKR1D1 CYP39A1 CYP7B1
2	oxidation-reduction process	GO:0055114	9.72	ACOX2 AKR1D1 CYP39A1 CYP7B1 HSD3B7
3	steroid metabolic process	GO:0008202	9.54	AKR1D1 CYP39A1 CYP7B1
4	cholesterol homeostasis	GO:0042632	9.52	CYP39A1 CYP7B1
5	protein targeting to peroxisome	GO:0006625	9.51	ACOX2 AMACR
6	fatty acid beta-oxidation	GO:0006635	9.49	ABCD3 ACOX2
7	digestion	GO:0007586	9.48	AKR1D1 CYP39A1
8	sterol metabolic process	GO:0016125	9.46	CYP39A1 CYP7B1
9	fatty acid beta-oxidation using acyl-CoA oxidase	GO:0033540	9.4	ACOX2 AMACR
10	B cell chemotaxis	GO:0035754	9.26	CYP7B1 HSD3B7
11	bile acid catabolic process	GO:0030573	9.16	AKR1D1 CYP39A1
12	cholesterol catabolic process	GO:0006707	9.13	AKR1D1 CYP39A1 HSD3B7
13	bile acid biosynthetic process	GO:0006699	9.1	ACOX2 AKR1D1 AMACR CYP39A1 CYP7B1 HSD3B7

Molecular functions related to Congenital Bile Acid Synthesis Defect according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.35	ACOX2 AKR1D1 CYP39A1 CYP7B1 HSD3B7
2	heme binding	GO:0020037	9.33	ABCB6 CYP39A1 CYP7B1
3	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	9.32	CYP39A1 CYP7B1
4	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	9.26	ABCB6 ABCD3
5	oxysterol 7-alpha-hydroxylase activity	GO:0008396	8.62	CYP39A1 CYP7B1

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Sources for Congenital Bile Acid Synthesis Defect

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