Leigh Syndrome with Leukodystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LGH012 MIFTS: 35	Leigh Syndrome with Leukodystrophy Categories: Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases
Genes Tissues Related diseases Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Leigh Syndrome with Leukodystrophy

MalaCards integrated aliases for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy ⁵⁹

Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy ⁵⁹

Leigh Disease with Leukodystrophy ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

leigh syndrome with leukodystrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Other degenerative diseases of the nervous system

Other degenerative diseases of nervous system, not elsewhere classified

Other specified degenerative diseases of nervous system

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

External Ids:

Orphanet ⁵⁹ ORPHA255241

ICD10 via Orphanet ³⁴ G31.8

SNOMED-CT via HPO ⁶⁹ 103276001 15188001 343087000 more

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Summaries for Leigh Syndrome with Leukodystrophy

MalaCards based summary : Leigh Syndrome with Leukodystrophy, also known as infantile subacute necrotizing encephalopathy with leukodystrophy, is related to comedo carcinoma and mitochondrial complex iv deficiency. An important gene associated with Leigh Syndrome with Leukodystrophy is NDUFS8 (NADH:Ubiquinone Oxidoreductase Core Subunit S8), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye, and related phenotypes are focal t2 hyperintense basal ganglia lesion and strabismus

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Related Diseases for Leigh Syndrome with Leukodystrophy

Diseases related to Leigh Syndrome with Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	comedo carcinoma	10.4	NDUFS3 NDUFS4
2	mitochondrial complex iv deficiency	9.9	PET100 SURF1 TACO1
3	mitochondrial metabolism disease	9.7	NDUFAF6 NDUFS1 NDUFS4 NDUFS8 NDUFV1 SURF1
4	leber hereditary optic neuropathy	9.3	FOXRED1 NDUFAF6 NDUFS1 NDUFS2 NDUFS4 NDUFS7
5	mitochondrial complex i deficiency	8.2	FOXRED1 MTFMT NDUFA10 NDUFAF6 NDUFS1 NDUFS2
6	leigh syndrome	6.5	ECHS1 FOXRED1 MTFMT NDUFA10 NDUFAF6 NDUFS1

Graphical network of the top 20 diseases related to Leigh Syndrome with Leukodystrophy:

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Symptoms & Phenotypes for Leigh Syndrome with Leukodystrophy

Human phenotypes related to Leigh Syndrome with Leukodystrophy:

⁵⁹ ³² (show all 33)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	focal t2 hyperintense basal ganglia lesion ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007183
2	strabismus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000486
3	ptosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000508
4	pigmentary retinopathy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000580
5	ophthalmoplegia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000602
6	nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000639
7	optic atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000648
8	emotional lability ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000712
9	hypertrichosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000998
10	seizures ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001250
11	muscular hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001252
12	dysarthria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001260
13	global developmental delay ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001263
14	dystonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001332
15	hyperreflexia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001347
16	failure to thrive ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001508
17	ventricular septal defect ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001629
18	hypertrophic cardiomyopathy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001639
19	progressive cerebellar ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002073
20	apnea ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002104
21	increased serum lactate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002151
22	leukodystrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002415
23	increased csf lactate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002490
24	decreased activity of the pyruvate dehydrogenase complex ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002928
25	progressive spastic paraplegia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007020
26	decreased activity of mitochondrial respiratory chain ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008972
27	peripheral neuropathy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009830
28	intellectual disability, severe ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010864
29	hearing impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000365
30	anemia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001903
31	spasticity ⁵⁹		Frequent (79-30%)
32	abnormality of movement ⁵⁹		Frequent (79-30%)
33	acidosis ⁵⁹		Occasional (29-5%)

GenomeRNAi Phenotypes related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

²⁶ (show all 35)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	10.46	NDUFS7
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	10.46	NDUFA10
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	10.46	NDUFV2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	10.46	NDUFS7 NDUFV1 NDUFA10 NDUFV2 NDUFS1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	10.46	NDUFS7 NDUFV1 NDUFA10 NDUFS1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	10.46	NDUFS7 NDUFA10 NDUFS1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	10.46	PDHA1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	10.46	NDUFS1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	10.46	PDHA1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	10.46	NDUFS7 NDUFV2 NDUFS1 PDHA1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	10.46	NDUFS1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	10.46	NDUFV1 NDUFA10 NDUFS1 PDHA1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	10.46	NDUFA10
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	10.46	NDUFA10
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	10.46	NDUFS7
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-183	10.46	NDUFA10
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-195	10.46	NDUFV1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.46	NDUFV2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	10.46	NDUFV2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	10.46	NDUFS1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	10.46	PDHA1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	10.46	NDUFS1 NDUFS7 NDUFV1 NDUFV2 NDUFA10
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	10.46	NDUFA10
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-76	10.46	NDUFA10
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-78	10.46	NDUFV1
26	Decreased shRNA abundance	GR00297-A	9.81	NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
27	Decreased shRNA abundance (Z-score < -2)	GR00366-A-111	9.8	NDUFS7
28	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	9.8	NDUFS1
29	Decreased shRNA abundance (Z-score < -2)	GR00366-A-193	9.8	NDUFA10
30	Decreased shRNA abundance (Z-score < -2)	GR00366-A-206	9.8	NDUFA10 NDUFS1 NDUFS7 NDUFV1
31	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	9.8	NDUFS1 NDUFS7 NDUFV1
32	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	9.8	NDUFS1
33	Decreased shRNA abundance (Z-score < -2)	GR00366-A-66	9.8	NDUFA10
34	Decreased shRNA abundance (Z-score < -2)	GR00366-A-71	9.8	NDUFA10
35	Decreased shRNA abundance (Z-score < -2)	GR00366-A-75	9.8	NDUFV1

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Drugs & Therapeutics for Leigh Syndrome with Leukodystrophy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search NIH Clinical Center for Leigh Syndrome with Leukodystrophy

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Genetic Tests for Leigh Syndrome with Leukodystrophy

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Anatomical Context for Leigh Syndrome with Leukodystrophy

MalaCards organs/tissues related to Leigh Syndrome with Leukodystrophy:

⁴¹

Eye

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Publications for Leigh Syndrome with Leukodystrophy

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Genes for Leigh Syndrome with Leukodystrophy

Genes related to Leigh Syndrome with Leukodystrophy (28 elite genes):

(show all 28)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NDUFS8	NADH:Ubiquinone Oxidoreductase Core Subunit S8	Protein Coding	350	Causative germline mutation ⁵⁹
2	NDUFV1	NADH:Ubiquinone Oxidoreductase Core Subunit V1	Protein Coding	350	Causative germline mutation ⁵⁹
3	NDUFS7	NADH:Ubiquinone Oxidoreductase Core Subunit S7	Protein Coding	350	Causative germline mutation ⁵⁹
4	NDUFS4	NADH:Ubiquinone Oxidoreductase Subunit S4	Protein Coding	350	Causative germline mutation ⁵⁹
5	NDUFS2	NADH:Ubiquinone Oxidoreductase Core Subunit S2	Protein Coding	350	Causative germline mutation ⁵⁹
6	NDUFS3	NADH:Ubiquinone Oxidoreductase Core Subunit S3	Protein Coding	350	Causative germline mutation ⁵⁹
7	NDUFV2	NADH:Ubiquinone Oxidoreductase Core Subunit V2	Protein Coding	350	Causative germline mutation ⁵⁹
8	PDHA1	Pyruvate Dehydrogenase E1 Alpha 1 Subunit	Protein Coding	350	Causative germline mutation ⁵⁹
9	SURF1	SURF1, Cytochrome C Oxidase Assembly Factor	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
10	TACO1	Translational Activator Of Cytochrome C Oxidase I	Protein Coding	350	Causative germline mutation ⁵⁹
11	SLC19A3	Solute Carrier Family 19 Member 3	Protein Coding	350	Causative germline mutation ⁵⁹
12	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	350	Causative germline mutation ⁵⁹
13	PET100	PET100 Homolog	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
14	NDUFS1	NADH:Ubiquinone Oxidoreductase Core Subunit S1	Protein Coding	350	Causative germline mutation ⁵⁹
15	NDUFAF6	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6	Protein Coding	350	Causative germline mutation ⁵⁹
16	MTFMT	Mitochondrial Methionyl-TRNA Formyltransferase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
17	NDUFA10	NADH:Ubiquinone Oxidoreductase Subunit A10	Protein Coding	350	Causative germline mutation ⁵⁹
18	LIPT1	Lipoyltransferase 1	Protein Coding	350	Causative germline mutation ⁵⁹
19	FOXRED1	FAD Dependent Oxidoreductase Domain Containing 1	Protein Coding	350	Causative germline mutation ⁵⁹
20	ECHS1	Enoyl-CoA Hydratase, Short Chain 1	Protein Coding	350	Causative germline mutation ⁵⁹
21	NDUFA12	NADH:Ubiquinone Oxidoreductase Subunit A12	Protein Coding	350	Causative germline mutation ⁵⁹
22	NDUFA13	NADH:Ubiquinone Oxidoreductase Subunit A13	Protein Coding	350	Causative germline mutation ⁵⁹
23	NDUFAF2	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2	Protein Coding	350	Causative germline mutation ⁵⁹
24	NDUFAF5	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5	Protein Coding	350	Causative germline mutation ⁵⁹
25	NDUFA9	NADH:Ubiquinone Oxidoreductase Subunit A9	Protein Coding	350	Causative germline mutation ⁵⁹
26	NDUFA4	NDUFA4, Mitochondrial Complex Associated	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
27	NDUFA2	NADH:Ubiquinone Oxidoreductase Subunit A2	Protein Coding	350	Causative germline mutation ⁵⁹
28	COX15	COX15, Cytochrome C Oxidase Assembly Homolog	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Leigh Syndrome with Leukodystrophy

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Expression for Leigh Syndrome with Leukodystrophy

Search GEO for disease gene expression data for Leigh Syndrome with Leukodystrophy.

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Pathways for Leigh Syndrome with Leukodystrophy

Pathways related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.72	ECHS1 LIPT1 NDUFA10 NDUFAF6 NDUFS1 NDUFS2
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Alzheimer's disease ³⁷ Alzheimers Disease ¹ Complex I biogenesis ⁶⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁶ Huntington's disease ³⁷ Non-alcoholic fatty liver disease (NAFLD) ³⁷ Oxidative phosphorylation ³⁷ Oxidative phosphorylation ¹ Parkinson's disease ³⁷ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶ Thermogenesis ³⁷	13.06	NDUFA10 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4
3	GABAergic synapse ³⁷ Show member pathways Morphine addiction ³⁷ Retrograde endocannabinoid signaling ³⁷	11.79	NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7
4	Metformin Pathway, Pharmacodynamics ⁶¹	11.11	NDUFS1 NDUFS2 NDUFS4 NDUFV1
5	Doxorubicin Pathway, Pharmacokinetics ⁶¹ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶¹	11.1	NDUFS2 NDUFS3 NDUFS7

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GO Terms for Leigh Syndrome with Leukodystrophy

Cellular components related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:0005759	9.97	ECHS1 LIPT1 NDUFA10 NDUFS1 NDUFS2 NDUFS3
2	myelin sheath	GO:0043209	9.85	NDUFA10 NDUFS1 NDUFS3 NDUFV2 PDHA1 SDHA
3	mitochondrial respiratory chain complex I	GO:0005747	9.65	FOXRED1 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4
4	plasma membrane respiratory chain complex I	GO:0045272	9.58	NDUFS1 NDUFS7 NDUFV2
5	respiratory chain	GO:0070469	9.32	FOXRED1 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4
6	mitochondrion	GO:0005739	10.11	ECHS1 FOXRED1 LIPT1 MTFMT NDUFA10 NDUFAF6
7	mitochondrial inner membrane	GO:0005743	10.03	FOXRED1 NDUFA10 NDUFAF6 NDUFS1 NDUFS2 NDUFS3

Biological processes related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.97	FOXRED1 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4
2	mitochondrial respiratory chain complex I assembly	GO:0032981	9.7	FOXRED1 NDUFA10 NDUFAF6 NDUFS1 NDUFS2 NDUFS3
3	electron transport chain	GO:0022900	9.58	NDUFS4 SDHA SURF1
4	aerobic respiration	GO:0009060	9.51	NDUFS7 SURF1
5	reactive oxygen species metabolic process	GO:0072593	9.5	NDUFS1 NDUFS3 NDUFS4
6	tricarboxylic acid cycle	GO:0006099	9.49	PDHA1 SDHA
7	cellular nitrogen compound metabolic process	GO:0034641	9.48	LIPT1 PDHA1
8	respiratory electron transport chain	GO:0022904	9.46	NDUFV2 SDHA
9	mitochondrial respiratory chain complex IV assembly	GO:0033617	9.43	PET100 SURF1
10	cellular respiration	GO:0045333	9.43	NDUFS1 NDUFS3 NDUFS4
11	mitochondrial ATP synthesis coupled electron transport	GO:0042775	9.37	NDUFS2 NDUFV1
12	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	9.28	NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7

Molecular functions related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.96	FOXRED1 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
2	electron transfer activity	GO:0009055	9.8	NDUFS1 NDUFS2 NDUFS3 NDUFV2 SDHA
3	iron-sulfur cluster binding	GO:0051536	9.8	NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1 NDUFV2
4	4 iron, 4 sulfur cluster binding	GO:0051539	9.77	NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1
5	NADH dehydrogenase activity	GO:0003954	9.55	NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
6	2 iron, 2 sulfur cluster binding	GO:0051537	9.46	NDUFS1 NDUFV2
7	quinone binding	GO:0048038	9.43	NDUFS2 NDUFS7
8	oxidoreductase activity, acting on NAD(P)H	GO:0016651	9.43	NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS8 NDUFV1
9	NADH dehydrogenase (ubiquinone) activity	GO:0008137	9.28	NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7

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Sources for Leigh Syndrome with Leukodystrophy

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