Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency		136
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39		43
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome		950
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15		29
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)		36
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		2
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30		3
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0030085	HP:0030085	Abnormal CSF lactate concentration	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0030085	HP:0030086	Reduced CSF lactate	1	CL E G H
HP:0030085	HP:0002490	Increased CSF lactate	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0030085	HP:0002490	Increased CSF lactate	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent	60
HP:0030085	HP:0002490	Increased CSF lactate	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0030085	HP:0002490	Increased CSF lactate	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0030085	HP:0002490	Increased CSF lactate	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0030085	HP:0002490	Increased CSF lactate	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional	136
HP:0030085	HP:0002490	Increased CSF lactate	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0030085	HP:0002490	Increased CSF lactate	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0030085	HP:0002490	Increased CSF lactate	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0030085	HP:0002490	Increased CSF lactate	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0030085	HP:0002490	Increased CSF lactate	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0030085	HP:0002490	Increased CSF lactate	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030085	HP:0002490	Increased CSF lactate	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030085	HP:0002490	Increased CSF lactate	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0030085	HP:0002490	Increased CSF lactate	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0030085	HP:0002490	Increased CSF lactate	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0030085	HP:0002490	Increased CSF lactate	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.	33
HP:0030085	HP:0002490	Increased CSF lactate	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0030085	HP:0002490	Increased CSF lactate	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0030085	HP:0002490	Increased CSF lactate	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0030085	HP:0002490	Increased CSF lactate	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.	85
HP:0030085	HP:0002490	Increased CSF lactate	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0030085	HP:0002490	Increased CSF lactate	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0030085	HP:0002490	Increased CSF lactate	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030085	HP:0002490	Increased CSF lactate	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040281 - Very frequent	19
HP:0030085	HP:0002490	Increased CSF lactate	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0030085	HP:0002490	Increased CSF lactate	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0030085	HP:0002490	Increased CSF lactate	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent	8
HP:0030085	HP:0002490	Increased CSF lactate	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent	191
HP:0030085	HP:0002490	Increased CSF lactate	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0030085	HP:0002490	Increased CSF lactate	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0030085	HP:0002490	Increased CSF lactate	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0030085	HP:0002490	Increased CSF lactate	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.	4
HP:0030085	HP:0002490	Increased CSF lactate	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional	950
HP:0030085	HP:0002490	Increased CSF lactate	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	HP:0040284 - Very rare	56
HP:0030085	HP:0002490	Increased CSF lactate	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.	1
HP:0030085	HP:0002490	Increased CSF lactate	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	.	29
HP:0030085	HP:0002490	Increased CSF lactate	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0030085	HP:0002490	Increased CSF lactate	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0030085	HP:0002490	Increased CSF lactate	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0030085	HP:0002490	Increased CSF lactate	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0030085	HP:0002490	Increased CSF lactate	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0030085	HP:0002490	Increased CSF lactate	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030085	HP:0002490	Increased CSF lactate	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0030085	HP:0002490	Increased CSF lactate	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0030085	HP:0002490	Increased CSF lactate	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0030085	HP:0002490	Increased CSF lactate	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0030085	HP:0002490	Increased CSF lactate	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent	88
HP:0030085	HP:0002490	Increased CSF lactate	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040281 - Very frequent	98
HP:0030085	HP:0002490	Increased CSF lactate	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0030085	HP:0002490	Increased CSF lactate	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0030085	HP:0002490	Increased CSF lactate	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0030085	HP:0002490	Increased CSF lactate	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent	60
HP:0030085	HP:0002490	Increased CSF lactate	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0030085	HP:0002490	Increased CSF lactate	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0030085	HP:0002490	Increased CSF lactate	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0030085	HP:0002490	Increased CSF lactate	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0030085	HP:0002490	Increased CSF lactate	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0030085	HP:0002490	Increased CSF lactate	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0030085	HP:0002490	Increased CSF lactate	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0030085	HP:0002490	Increased CSF lactate	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	.	2
HP:0030085	HP:0002490	Increased CSF lactate	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0030085	HP:0002490	Increased CSF lactate	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.	36
HP:0030085	HP:0002490	Increased CSF lactate	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0030085	HP:0002490	Increased CSF lactate	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0030085	HP:0002490	Increased CSF lactate	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0030085	HP:0002490	Increased CSF lactate	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0030085	HP:0002490	Increased CSF lactate	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0030085	HP:0002490	Increased CSF lactate	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0030085	HP:0002490	Increased CSF lactate	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0030085	HP:0002490	Increased CSF lactate	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0030085	HP:0002490	Increased CSF lactate	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0030085	HP:0002490	Increased CSF lactate	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0030085	HP:0002490	Increased CSF lactate	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0030085	HP:0002490	Increased CSF lactate	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0030085	HP:0002490	Increased CSF lactate	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0030085	HP:0002490	Increased CSF lactate	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0030085	HP:0002490	Increased CSF lactate	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional	2
HP:0030085	HP:0002490	Increased CSF lactate	1	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.	3
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0030085	HP:0002490	Increased CSF lactate	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0030085	HP:0002490	Increased CSF lactate	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0030085	HP:0002490	Increased CSF lactate	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7