Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001427	HP:0001427	Mitochondrial inheritance	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0001427	HP:0001427	Mitochondrial inheritance	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0001427	HP:0001427	Mitochondrial inheritance	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0001427	HP:0001427	Mitochondrial inheritance	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0001427	HP:0001427	Mitochondrial inheritance	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0001427	HP:0001427	Mitochondrial inheritance	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0001427	HP:0001427	Mitochondrial inheritance	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0001427	HP:0001427	Mitochondrial inheritance	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0001427	HP:0001427	Mitochondrial inheritance	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0001427	HP:0001427	Mitochondrial inheritance	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0001427	HP:0001427	Mitochondrial inheritance	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0001427	HP:0001427	Mitochondrial inheritance	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0001427	HP:0001427	Mitochondrial inheritance	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0001427	HP:0001427	Mitochondrial inheritance	0	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	125	30546	614585
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TS1 CL E G H	4574	580000	Aminoglycoside-induced deafness	580000	C1838854	OMIM	1		7497	590080
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001427	HP:0001427	Mitochondrial inheritance	0	MT-TW CL E G H	4578	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1		7501	590095
HP:0001427	HP:0001427	Mitochondrial inheritance	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001427	HP:0001427	Mitochondrial inheritance	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0001427	HP:0001427	Mitochondrial inheritance	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0001427	HP:0001427	Mitochondrial inheritance	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0001427	HP:0001427	Mitochondrial inheritance	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0001427	HP:0001427	Mitochondrial inheritance	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0001427	HP:0001427	Mitochondrial inheritance	0	TRMU CL E G H	55687	580000	Aminoglycoside-induced deafness	580000	C1838854	OMIM	1	623	25481	610230
HPO disease - gene - phenotype less frequent non-typical associations: