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

MCID: LGH012 MIFTS: 35	Leigh Syndrome with Leukodystrophy Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Pathways Symptoms & Phenotypes 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 cardioencephalomyopathy. An important gene associated with Leigh Syndrome with Leukodystrophy is NDUFA12 (NADH:Ubiquinone Oxidoreductase Subunit A12), 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 ptosis and nystagmus

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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	10.2	NDUFS3 NDUFS4
2	cardioencephalomyopathy	10.1	COX15 SURF1
3	mitochondrial complex iv deficiency	10.1	COX15 SURF1 TACO1
4	rubeosis iridis	10.0	NDUFS4 NDUFS7
5	leber hereditary optic neuropathy	9.6	FOXRED1 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2
6	mitochondrial complex i deficiency	9.3	FOXRED1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1
7	mitochondrial metabolism disease	9.1	COX15 ECHS1 FOXRED1 NDUFAF2 NDUFAF5 NDUFAF6
8	leigh syndrome	8.8	COX15 ECHS1 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5

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

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	10.2	NDUFS7
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	10.2	NDUFV2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	10.2	NDUFS1 NDUFS7 NDUFV1 NDUFV2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	10.2	NDUFS1 NDUFS7
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	10.2	PDHA1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	10.2	NDUFS1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	10.2	PDHA1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	10.2	NDUFS1 NDUFS7 NDUFV2 PDHA1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	10.2	NDUFS1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	10.2	NDUFS1 NDUFV1 PDHA1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	10.2	NDUFS7
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-195	10.2	NDUFV1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.2	NDUFV2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	10.2	NDUFV2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	10.2	NDUFS1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	10.2	PDHA1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	10.2	NDUFS1 NDUFS7 NDUFV1 NDUFV2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-78	10.2	NDUFV1
19	Decreased shRNA abundance (Z-score < -2)	GR00366-A-111	9.77	NDUFS7
20	Decreased shRNA abundance (Z-score < -2)	GR00366-A-116	9.77	NDUFS1 NDUFS7 NDUFV1
21	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	9.77	NDUFS1
22	Decreased shRNA abundance (Z-score < -2)	GR00366-A-206	9.77	NDUFS1 NDUFS7 NDUFV1
23	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	9.77	NDUFS1 NDUFS7 NDUFV1
24	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	9.77	NDUFS1
25	Decreased shRNA abundance (Z-score < -2)	GR00366-A-75	9.77	NDUFV1
26	Decreased shRNA abundance	GR00297-A	9.76	NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8 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	NDUFA12	NADH:Ubiquinone Oxidoreductase Subunit A12	Protein Coding	350	Causative germline mutation ⁵⁹
2	NDUFV1	NADH:Ubiquinone Oxidoreductase Core Subunit V1	Protein Coding	350	Causative germline mutation ⁵⁹
3	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	350	Causative germline mutation ⁵⁹
4	SLC19A3	Solute Carrier Family 19 Member 3	Protein Coding	350	Causative germline mutation ⁵⁹
5	SURF1	SURF1, Cytochrome C Oxidase Assembly Factor	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
6	COX15	Cytochrome C Oxidase Assembly Homolog COX15	Protein Coding	350	Causative germline mutation ⁵⁹
7	NDUFAF2	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2	Protein Coding	350	Causative germline mutation ⁵⁹
8	NDUFS1	NADH:Ubiquinone Oxidoreductase Core Subunit S1	Protein Coding	350	Causative germline mutation ⁵⁹
9	NDUFS2	NADH:Ubiquinone Oxidoreductase Core Subunit S2	Protein Coding	350	Causative germline mutation ⁵⁹
10	NDUFS3	NADH:Ubiquinone Oxidoreductase Core Subunit S3	Protein Coding	350	Causative germline mutation ⁵⁹
11	NDUFS4	NADH:Ubiquinone Oxidoreductase Subunit S4	Protein Coding	350	Causative germline mutation ⁵⁹
12	NDUFS7	NADH:Ubiquinone Oxidoreductase Core Subunit S7	Protein Coding	350	Causative germline mutation ⁵⁹
13	NDUFS8	NADH:Ubiquinone Oxidoreductase Core Subunit S8	Protein Coding	350	Causative germline mutation ⁵⁹
14	NDUFV2	NADH:Ubiquinone Oxidoreductase Core Subunit V2	Protein Coding	350	Causative germline mutation ⁵⁹
15	ECHS1	Enoyl-CoA Hydratase, Short Chain 1	Protein Coding	350	Causative germline mutation ⁵⁹
16	PDHA1	Pyruvate Dehydrogenase E1 Alpha 1 Subunit	Protein Coding	350	Causative germline mutation ⁵⁹
17	NDUFAF5	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5	Protein Coding	350	Causative germline mutation ⁵⁹
18	NDUFAF6	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6	Protein Coding	350	Causative germline mutation ⁵⁹
19	TACO1	Translational Activator Of Cytochrome C Oxidase I	Protein Coding	350	Causative germline mutation ⁵⁹
20	FOXRED1	FAD Dependent Oxidoreductase Domain Containing 1	Protein Coding	350	Causative germline mutation ⁵⁹
21	NDUFA2	NADH:Ubiquinone Oxidoreductase Subunit A2	Protein Coding	350	Causative germline mutation ⁵⁹
22	NDUFA10	NADH:Ubiquinone Oxidoreductase Subunit A10	Protein Coding	350	Causative germline mutation ⁵⁹
23	NDUFA9	NADH:Ubiquinone Oxidoreductase Subunit A9	Protein Coding	350	Causative germline mutation ⁵⁹
24	MTFMT	Mitochondrial Methionyl-TRNA Formyltransferase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
25	LIPT1	Lipoyltransferase 1	Protein Coding	350	Causative germline mutation ⁵⁹
26	PET100	PET100 Homolog	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
27	NDUFA4	NDUFA4, Mitochondrial Complex Associated	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
28	NDUFA13	NADH:Ubiquinone Oxidoreductase Subunit A13	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	13.57	COX15 ECHS1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Alzheimer disease ³⁷ Alzheimers Disease ¹ Complex I biogenesis ⁶⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁶ Huntington disease ³⁷ Non-alcoholic fatty liver disease (NAFLD) ³⁷ Oxidative phosphorylation ³⁷ Oxidative phosphorylation ¹ Parkinson disease ³⁷ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶ Thermogenesis ³⁷	12.81	COX15 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1
3	GABAergic synapse ³⁷ Show member pathways Morphine addiction ³⁷ Retrograde endocannabinoid signaling ³⁷	12.32	NDUFA12 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	9.87	ECHS1 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
2	myelin sheath	GO:0043209	9.77	NDUFS1 NDUFS3 NDUFV2 PDHA1 SDHA
3	mitochondrial respiratory chain complex I	GO:0005747	9.65	FOXRED1 NDUFA12 NDUFS1 NDUFS2 NDUFS3 NDUFS4
4	mitochondrial respiratory chain	GO:0005746	9.43	COX15 SURF1
5	respiratory chain	GO:0070469	9.32	FOXRED1 NDUFA12 NDUFS1 NDUFS2 NDUFS3 NDUFS4
6	membrane	GO:0016020	10.31	COX15 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6
7	mitochondrion	GO:0005739	10.23	COX15 ECHS1 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5
8	mitochondrial inner membrane	GO:0005743	10	COX15 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial respiratory chain complex I assembly	GO:0032981	9.77	FOXRED1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1
2	electron transport chain	GO:0022900	9.71	NDUFA12 NDUFS4 SDHA SURF1
3	response to oxidative stress	GO:0006979	9.67	NDUFA12 NDUFS2 NDUFS8
4	reactive oxygen species metabolic process	GO:0072593	9.62	NDUFAF2 NDUFS1 NDUFS3 NDUFS4
5	aerobic respiration	GO:0009060	9.61	NDUFS7 NDUFS8 SURF1
6	cellular respiration	GO:0045333	9.56	COX15 NDUFAF2 NDUFS1 NDUFS4
7	mitochondrial ATP synthesis coupled electron transport	GO:0042775	9.54	NDUFA12 NDUFS2 NDUFV1
8	respiratory gaseous exchange	GO:0007585	9.52	COX15 NDUFA12
9	tricarboxylic acid cycle	GO:0006099	9.51	PDHA1 SDHA
10	respiratory electron transport chain	GO:0022904	9.48	NDUFAF2 SDHA
11	respiratory chain complex IV assembly	GO:0008535	9.46	COX15 SURF1
12	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	9.23	NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8
13	oxidation-reduction process	GO:0055114	10.03	COX15 FOXRED1 NDUFA12 NDUFAF5 NDUFS1 NDUFS2

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.9	FOXRED1 NDUFAF5 NDUFS1 NDUFS2 NDUFS3 NDUFS7
2	electron transfer activity	GO:0009055	9.87	NDUFA12 NDUFAF2 NDUFS1 NDUFS2 NDUFS3 NDUFV2
3	iron-sulfur cluster binding	GO:0051536	9.85	NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1 NDUFV2
4	4 iron, 4 sulfur cluster binding	GO:0051539	9.8	NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1
5	NADH dehydrogenase activity	GO:0003954	9.65	NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
6	NAD binding	GO:0051287	9.51	NDUFS2 NDUFV1
7	cytochrome-c oxidase activity	GO:0004129	9.49	COX15 SURF1
8	oxidoreductase activity, acting on the CH-CH group of donors	GO:0016627	9.48	COX15 SDHA
9	2 iron, 2 sulfur cluster binding	GO:0051537	9.46	NDUFS1 NDUFV2
10	quinone binding	GO:0048038	9.43	NDUFS2 NDUFS7
11	oxidoreductase activity, acting on NAD(P)H	GO:0016651	9.43	NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS8 NDUFV1
12	NADH dehydrogenase (ubiquinone) activity	GO:0008137	9.32	NDUFA12 NDUFAF2 NDUFS1 NDUFS2 NDUFS3 NDUFS4

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