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:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect		94
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN		11
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0025045	HP:0025045	Abnormal brain lactate level by MRS	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025045	HP:0025046	Reduced brain lactate level by MRS	1	CL E G H
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	94
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN		11
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025045	HP:0012707	Elevated brain lactate level by MRS	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56