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	leigh syndrome

Disease ID	17
Disease	leigh syndrome
Definition	A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Synonym	disease leigh disease, leigh's diseases leighs enceph subacute necrotizing encephalomyelitides, subacute necrotizing encephalomyelitis, subacute necrotizing encephalomyelopathies, subacute necrotizing encephalomyelopathy, necrotizing, subacute encephalomyelopathy, subacute necrotizing encephalopathies, subacute necrotizing encephalopathy, subacute necrotizing leigh dis leigh disease leigh disease [disease/finding] leigh syndrome (256000) leigh's disease leigh's disease (disorder) leighs dis leighs disease leighs syndrome ls necrotizing encephalomyelitides, subacute necrotizing encephalomyelitis, subacute necrotizing encephalomyelopathies, subacute necrotizing encephalomyelopathy, subacute necrotizing encephalopathies, subacute necrotizing encephalopathy, subacute sne snem - subacute necrotising encephalomyelopathy snem - subacute necrotizing encephalomyelopathy subacute necrotising encephalomyelopathy subacute necrotising encephalopathy subacute necrotizing enceph subacute necrotizing encephalomyelitides subacute necrotizing encephalomyelitis subacute necrotizing encephalomyelopathies subacute necrotizing encephalomyelopathy subacute necrotizing encephalopathies subacute necrotizing encephalopathy
Orphanet	ORPHANET:506
OMIM	OMIM:256000
DOID	DOID:3652
ICD10	ICD10CM:G31.82
UMLS	C0023264
MeSH	D007888
SNOMED-CT	SNOMEDCT_US_2016_09_01:29570005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0014544 \| epilepsy \| 3 C0023264 \| subacute necrotizing encephalomyelopathy \| 2 C0029124 \| optic atrophy \| 2 C0410174 \| fukuyama congenital muscular dystrophy \| 1 C0037769 \| infantile spasms \| 1 C1838979 \| mitochondrial complex i deficiency \| 1 C0001125 \| lactic acidosis \| 1 C0023264 \| subacute necrotizing encephalopathy \| 1 C0037315 \| sleep apnea \| 1 C0004134 \| ataxia \| 1 C0029089 \| ophthalmoplegia \| 1 C0026654 \| moyamoya disease \| 1 C0699743 \| congenital muscular dystrophy \| 1 C0034063 \| pulmonary edema \| 1 C0026850 \| muscular dystrophy \| 1 C0456909 \| blindness \| 1 C0026654 \| moyamoya \| 1 C0751651 \| mitochondrial disorders \| 1 C0023264 \| subacute necrotising encephalopathy \| 1 C0520679 \| obstructive sleep apnea \| 1 C0751651 \| mitochondrial disorder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:43) 617 \| BCS1L \| CTD_human;UNIPROT 6389 \| SDHA \| CTD_human;GHR;UNIPROT;UniProtKB-KW 5160 \| PDHA1 \| GHR;UNIPROT;UniProtKB-KW 1738 \| DLD \| CTD_human;UNIPROT 4538 \| MT-ND4 \| GHR 9997 \| SCO2 \| ORPHANET;UNIPROT;UniProtKB-KW 4508 \| MT-ATP6 \| GHR;UNIPROT;UniProtKB-KW 4723 \| NDUFV1 \| CTD_human;GHR;UNIPROT;UniProtKB-KW 6834 \| SURF1 \| CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 5091 \| PC \| UNIPROT 4695 \| NDUFA2 \| CTD_human;GHR 4697 \| NDUFA4 \| UniProtKB-KW 1352 \| COX10 \| GHR;UNIPROT;UniProtKB-KW 4535 \| MT-ND1 \| GHR 4536 \| MT-ND2 \| GHR 4540 \| MT-ND5 \| GHR;UNIPROT;UniProtKB-KW 4541 \| MT-ND6 \| GHR;UNIPROT 4514 \| MT-CO3 \| UNIPROT 4705 \| NDUFA10 \| GHR 126328 \| NDUFA11 \| GHR 4694 \| NDUFA1 \| GHR 57107 \| PDSS2 \| GHR 55572 \| FOXRED1 \| CTD_human;GHR 4724 \| NDUFS4 \| CTD_human;GHR;UNIPROT 5428 \| POLG \| UniProtKB-KW;UNIPROT 91942 \| NDUFAF2 \| CTD_human;GHR 79133 \| NDUFAF5 \| GHR;UNIPROT;UniProtKB-KW 1355 \| COX15 \| CTD_human;GHR;UNIPROT;UniProtKB-KW 4728 \| NDUFS8 \| CLINVAR;CTD_human;GHR;UNIPROT;UniProtKB-KW 374291 \| NDUFS7 \| CTD_human;GHR;UNIPROT;UniProtKB-KW 4722 \| NDUFS3 \| CTD_human;GHR;UNIPROT 4719 \| NDUFS1 \| GHR;UNIPROT 123263 \| MTFMT \| CLINVAR;UniProtKB-KW 10128 \| LRPPRC \| GHR;UNIPROT;UniProtKB-KW 79731 \| NARS2 \| UniProtKB-KW;UNIPROT 55699 \| IARS2 \| CLINVAR 4720 \| NDUFS2 \| ORPHANET;GHR 5162 \| PDHB \| GHR 137682 \| NDUFAF6 \| CTD_human;GHR 1892 \| ECHS1 \| CLINVAR 51204 \| TACO1 \| CTD_human;GHR;UNIPROT;UniProtKB-KW 55967 \| NDUFA12 \| UniProtKB-KW 4537 \| MT-ND3 \| GHR;UNIPROT;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:16) 4540 \| MT-ND5 \| CIPHER 6389 \| SDHA \| CTD_human 6834 \| SURF1 \| CTD_human 4724 \| NDUFS4 \| CTD_human 1355 \| COX15 \| CTD_human 617 \| BCS1L \| CTD_human 55572 \| FOXRED1 \| CTD_human 1738 \| DLD \| CTD_human 374291 \| NDUFS7 \| CTD_human 4728 \| NDUFS8 \| CTD_human 4695 \| NDUFA2 \| CTD_human 4722 \| NDUFS3 \| CTD_human 4723 \| NDUFV1 \| CTD_human 137682 \| NDUFAF6 \| CTD_human 91942 \| NDUFAF2 \| CTD_human 51204 \| TACO1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:101) 37 \| ACADVL \| 1.148 \| DISEASES 55256 \| ADI1 \| 2.946 \| DISEASES 197 \| AHSG \| 1.643 \| DISEASES 85300 \| ATCAY \| 2.202 \| DISEASES 91647 \| ATPAF2 \| 2.863 \| DISEASES 388962 \| BOLA3 \| 3.479 \| DISEASES 51287 \| COA4 \| 2.789 \| DISEASES 1291 \| COL6A1 \| 1.23 \| DISEASES 10229 \| COQ7 \| 2.15 \| DISEASES 84987 \| COX14 \| 3.335 \| DISEASES 54675 \| CRLS1 \| 3.281 \| DISEASES 1431 \| CS \| 1.113 \| DISEASES 7818 \| DAP3 \| 2.589 \| DISEASES 55157 \| DARS2 \| 3.211 \| DISEASES 131118 \| DNAJC19 \| 2.284 \| DISEASES 84677 \| DSCR8 \| 3.778 \| DISEASES 1892 \| ECHS1 \| 4.086 \| DISEASES 1915 \| EEF1A1 \| 1.132 \| DISEASES 1993 \| ELAVL2 \| 1.406 \| DISEASES 1996 \| ELAVL4 \| 1.062 \| DISEASES 2271 \| FH \| 1.754 \| DISEASES 2395 \| FXN \| 1.125 \| DISEASES 85476 \| GFM1 \| 1.592 \| DISEASES 2731 \| GLDC \| 1.65 \| DISEASES 51218 \| GLRX5 \| 1.978 \| DISEASES 84705 \| GTPBP3 \| 3.151 \| DISEASES 8908 \| GYG2 \| 2.604 \| DISEASES 26275 \| HIBCH \| 4.743 \| DISEASES 3141 \| HLCS \| 1.509 \| DISEASES 200205 \| IBA57 \| 2.528 \| DISEASES 56704 \| JPH1 \| 2.008 \| DISEASES 51601 \| LIPT1 \| 3.105 \| DISEASES 1130 \| LYST \| 1.472 \| DISEASES 92399 \| MRRF \| 1.711 \| DISEASES 4508 \| MT-ATP6 \| 6.396 \| DISEASES 4509 \| MT-ATP8 \| 3.662 \| DISEASES 4512 \| MT-CO1 \| 2.532 \| DISEASES 4513 \| MT-CO2 \| 1.981 \| DISEASES 4514 \| MT-CO3 \| 2.407 \| DISEASES 4519 \| MT-CYB \| 1.495 \| DISEASES 4535 \| MT-ND1 \| 3.944 \| DISEASES 4536 \| MT-ND2 \| 3.642 \| DISEASES 4537 \| MT-ND3 \| 5.436 \| DISEASES 4538 \| MT-ND4 \| 4.83 \| DISEASES 4539 \| MT-ND4L \| 2.088 \| DISEASES 4540 \| MT-ND5 \| 5.781 \| DISEASES 4541 \| MT-ND6 \| 5.603 \| DISEASES 25821 \| MTO1 \| 2.814 \| DISEASES 9617 \| MTRF1 \| 3.497 \| DISEASES 54516 \| MTRF1L \| 3.664 \| DISEASES 4556 \| MT-TE \| 2.887 \| DISEASES 4565 \| MT-TI \| 2.71 \| DISEASES 4566 \| MT-TK \| 5.251 \| DISEASES 4567 \| MT-TL1 \| 3.439 \| DISEASES 4568 \| MT-TL2 \| 2.808 \| DISEASES 4578 \| MT-TW \| 3.458 \| DISEASES 4694 \| NDUFA1 \| 5.574 \| DISEASES 55967 \| NDUFA12 \| 3.721 \| DISEASES 51079 \| NDUFA13 \| 1.779 \| DISEASES 4697 \| NDUFA4 \| 2.525 \| DISEASES 4702 \| NDUFA8 \| 4.001 \| DISEASES 25915 \| NDUFAF3 \| 2.351 \| DISEASES 79133 \| NDUFAF5 \| 4.685 \| DISEASES 137682 \| NDUFAF6 \| 5.188 \| DISEASES 4712 \| NDUFB6 \| 2.685 \| DISEASES 4719 \| NDUFS1 \| 4.601 \| DISEASES 4720 \| NDUFS2 \| 4.156 \| DISEASES 4723 \| NDUFV1 \| 5.215 \| DISEASES 4729 \| NDUFV2 \| 3.037 \| DISEASES 4782 \| NFIC \| 1.143 \| DISEASES 27247 \| NFU1 \| 2.138 \| DISEASES 25973 \| PARS2 \| 2.659 \| DISEASES 5091 \| PC \| 2.091 \| DISEASES 5160 \| PDHA1 \| 4.901 \| DISEASES 5165 \| PDK3 \| 3.512 \| DISEASES 54704 \| PDP1 \| 1.958 \| DISEASES 57107 \| PDSS2 \| 2.242 \| DISEASES 100131801 \| PET100 \| 4.107 \| DISEASES 29944 \| PNMA3 \| 2.042 \| DISEASES 87178 \| PNPT1 \| 2.275 \| DISEASES 26024 \| PTCD1 \| 3.769 \| DISEASES 55005 \| RMND1 \| 2.451 \| DISEASES 6130 \| RPL7A \| 2.445 \| DISEASES 26278 \| SACS \| 2.047 \| DISEASES 644096 \| SDHAF1 \| 4.43 \| DISEASES 6390 \| SDHB \| 2.586 \| DISEASES 6391 \| SDHC \| 2.741 \| DISEASES 6392 \| SDHD \| 2.631 \| DISEASES 84947 \| SERAC1 \| 3.426 \| DISEASES 83733 \| SLC25A18 \| 1.712 \| DISEASES 91137 \| SLC25A46 \| 1.609 \| DISEASES 81892 \| SLIRP \| 3.648 \| DISEASES 8803 \| SUCLA2 \| 3.683 \| DISEASES 8802 \| SUCLG1 \| 3.642 \| DISEASES 6832 \| SUPV3L1 \| 2.268 \| DISEASES 6834 \| SURF1 \| 7.643 \| DISEASES 1678 \| TIMM8A \| 1.28 \| DISEASES 27010 \| TPK1 \| 2.451 \| DISEASES 7407 \| VARS \| 2.129 \| DISEASES 57176 \| VARS2 \| 2.362 \| DISEASES 25925 \| ZNF521 \| 2.374 \| DISEASES
Locus	(Waiting for update.)

Disease ID	17
Disease	leigh syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0000639 \| Nystagmus HP:0001250 \| Seizures HP:0001251 \| Ataxia HP:0002093 \| Respiratory insufficiency HP:0008972 \| Decreased activity of mitochondrial respiratory chain HP:0100543 \| Cognitive impairment HP:0000486 \| Strabismus HP:0100022 \| Abnormality of movement HP:0001252 \| Muscular hypotonia HP:0000648 \| Optic atrophy HP:0004374 \| Hemiplegia/hemiparesis HP:0007650 \| Progressive ophthalmoplegia HP:0007020 \| Progressive spastic paraplegia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0000648 \| Optic-nerve degeneration \| 2 HP:0001941 \| acidemia \| 2 HP:0003560 \| Muscular dystrophy \| 1 HP:0002804 \| Arthrogryposis multiplex congenita \| 1 HP:0012469 \| Infantile spasms \| 1 HP:0003128 \| Lactic acidosis \| 1 HP:0001251 \| Ataxia \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0000618 \| Blindness \| 1 HP:0006965 \| Acute necrotizing encephalopathy \| 1 HP:0002171 \| Cerebral gliosis \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0003741 \| Muscular dystrophy, congenital \| 1 HP:0001270 \| Motor retardation \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0010535 \| Sleep apnea \| 1

Disease ID	17
Disease	leigh syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C2700533 \| cytochrome c oxidase deficiency C1963138 \| hypertension C1145670 \| respiratory failure C0342782 \| mitochondrial dna depletion C0037090 \| respiratory symptoms C0023520 \| leukodystrophy C0001125 \| lactic acidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0268237 \| cytochrome c oxidase deficiency \| 1

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
NDUFAF6	NM_152416.2: c.420+2dupA	doi:10.1038/gim.2016.153	A comprehensive strategy for exome-based preconception carrier screening
NDUFS4	c.462delA42	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:49)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118192098	NA	4566	TRNK	umls:C0023264	CLINVAR	NA	0.120542884	NA	NA	MT	8344	A	G
rs118192100	NA	4566	TRNK	umls:C0023264	CLINVAR	NA	0.120542884	NA	NA	MT	8363	G	A
rs143722284	NA	55699	IARS2	umls:C0023264	CLINVAR	NA	0.120271442	NA	IARS2	1	220137990	G	A
rs150667550	20819849	4720	NDUFS2	umls:C0023264	BeFree	The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.	0.121085767	2010	NDUFS2	1	161210599	T	C
rs199474657	NA	4567	TRNL1	umls:C0023264	CLINVAR	NA	0.12	NA	NA	MT	3243	A	G
rs199474672	NA	4578	TRNW	umls:C0023264	CLINVAR	NA	0.120271442	NA	NA	MT	5537	-	T
rs199476104	NA	4541	ND6	umls:C0023264	CLINVAR	NA	0.121085767	NA	ND6	MT	14484	T	C
rs199476105	NA	4541	ND6	umls:C0023264	CLINVAR	NA	0.121085767	NA	ND6	MT	14459	G	A
rs199476109	NA	4541	ND6	umls:C0023264	CLINVAR	NA	0.121085767	NA	ND6	MT	14487	T	C
rs199476112	21414825	4538	ND4	umls:C0023264	BeFree	Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON.	0.121357209	2011	ND4	MT	11778	G	A
rs199476117	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10158	T	C
rs199476118	NA	4535	ND1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ND1	MT	3460	G	A
rs199476122	24830958	4535	ND1	umls:C0023264	BeFree	Herein we report on three siblings with Leigh syndrome (LS) harboring a homoplasmic m.3697G>A mutation (G131S) in the MT-ND1 gene.	0.120814326	2014	ND1	MT	3697	G	A
rs199476133	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	8993	T	C,G
rs199476135	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	9176	T	C,G
rs199476136	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	8851	T	C
rs199476138	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	9185	T	C
rs199476138	24153443	4508	ATP6	umls:C0023264	BeFree	The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation.	0.251691864	2014	ATP6	MT	9185	T	C
rs199476144	NA	4577	TRNV	umls:C0023264	CLINVAR	NA	0.12	NA	NA	MT	1624	C	T
rs200911567	NA	4538	ND4	umls:C0023264	CLINVAR	NA	0.121357209	NA	ND4	MT	11984	T	C
rs201431517	NA	123263	MTFMT	umls:C0023264	CLINVAR	NA	0.120271442	NA	MTFMT	15	65021533	G	A
rs267606614	NA	4514	COX3	umls:C0023264	CLINVAR	NA	0.120542884	NA	COX3	MT	9537	-	C
rs267606889	NA	4536	ND2	umls:C0023264	CLINVAR	NA	0.12272435	NA	ND2	MT	4681	T	C
rs267606890	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10191	T	C
rs267606891	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10197	G	A
rs267606893	NA	4540	ND5	umls:C0023264	CLINVAR	NA	0.2489015	NA	ND5	MT	12706	T	C
rs267606897	NA	4540	ND5	umls:C0023264	CLINVAR	NA	0.2489015	NA	ND5	MT	13513	G	A
rs28384199	NA	4538	ND4	umls:C0023264	CLINVAR	NA	0.121357209	NA	ND4	MT	11777	C	A,G
rs28933402	10746561	6834	SURF1	umls:C0023264	UNIPROT	Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.	0.585469386	2000	SURF1	9	133353893	C	T
rs28939679	9837812	4728	NDUFS8	umls:C0023264	UNIPROT	Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome.	0.360814326	1998	NDUFS8;MIR4691;MIR7113	11	68033147	C	T
rs28939679	20819849	4719	NDUFS1	umls:C0023264	BeFree	These included a novel homozygous NDUFS1 mutation in an Asian child with Leigh syndrome, a previously identified NDUFS8 mutation (c.236C>T, p.P79L) in a second Asian child with Leigh-like syndrome and six novel, compound heterozygous NDUFS2 mutations in four white Caucasian patients with Leigh or Leigh-like syndrome.	0.003267234	2010	NDUFS8;MIR4691;MIR7113	11	68033147	C	T
rs28939711	12474143	1355	COX15	umls:C0023264	UNIPROT	Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.	0.242995792	2003	COX15	10	99724057	G	A
rs369202065	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	8839	G	A,C
rs370471013	NA	4578	TRNW	umls:C0023264	CLINVAR	NA	0.120271442	NA	NA	MT	5559	A	G
rs373436822	NA	55699	IARS2	umls:C0023264	CLINVAR	NA	0.120271442	NA	IARS2	1	220126827	G	A
rs386829069	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	9191	T	C
rs587776433	NA	4535	ND1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ND1	MT	3481	G	A
rs587776434	NA	4535	ND1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ND1	MT	3890	G	A
rs587776435	NA	4578	TRNW	umls:C0023264	CLINVAR	NA	0.120271442	NA	NA	MT	5523	T	G
rs587776437	NA	4514	COX3	umls:C0023264	CLINVAR	NA	0.120542884	NA	COX3	MT	9478	T	C
rs587776438	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10254	G	A
rs587776440	NA	4540	ND5	umls:C0023264	CLINVAR	NA	0.2489015	NA	ND5	MT	13514	A	G
rs587776441	NA	4577	TRNV	umls:C0023264	CLINVAR	NA	0.12	NA	NA	MT	1644	G	T
rs587776442	NA	4535	ND1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ND1	MT	3928	G	C
rs587776444	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	8989	G	C
rs587776497	NA	1892	ECHS1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ECHS1;MIR3944	10	133373332	A	C
rs587776498	NA	1892	ECHS1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ECHS1;MIR3944	10	133373329	G	A
rs587780529	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10134	C	A
rs764276946	NA	4728	NDUFS8	umls:C0023264	CLINVAR	NA	0.360814326	NA	NDUFS8;MIR4691;MIR7113	11	68033254	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100022	Abnormality of movement	MP:0005223	abnormal dorsal-ventral polarity of the somites	anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0008972	Decreased activity of mitochondrial respiratory chain	MP:0011639	decreased mitochondrial DNA content	less than expected amount of DNA contained within the mirochondria of a eukaryotic cell
HP:0000648	Optic atrophy	MP:0012506	brain atrophy	acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan

Mapped by homologous gene(Total Items:13)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0100543	Cognitive impairment	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002093	Respiratory insufficiency	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0100022	Abnormality of movement	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0007650	Progressive ophthalmoplegia	MP:0011089	perinatal lethality, complete penetrance	death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)
HP:0008972	Decreased activity of mitochondrial respiratory chain	MP:0011639	decreased mitochondrial DNA content	less than expected amount of DNA contained within the mirochondria of a eukaryotic cell
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000486	Strabismus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001251	Ataxia	MP:0020301	short tongue	decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0007020	Progressive spastic paraplegia	MP:0012431	increased lymphoma incidence	greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0000648	Optic atrophy	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000639	Nystagmus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0004374	Hemiplegia/hemiparesis	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l

Disease ID	17
Disease	leigh syndrome
Case	(Waiting for update.)