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:0002913	HP:0002913	Myoglobinuria	0	CPT2 CL E G H	1376	255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	255110	C1833508	OMIM	1	876	2330	600650
HP:0002913	HP:0002913	Myoglobinuria	0	DMD CL E G H	1756	98895				ORPHA	1	8184	2928	300377
HP:0002913	HP:0002913	Myoglobinuria	0	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0002913	HP:0002913	Myoglobinuria	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0002913	HP:0002913	Myoglobinuria	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0002913	HP:0002913	Myoglobinuria	0	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0002913	HP:0002913	Myoglobinuria	0	LDHA CL E G H	3939	612933	Glycogen storage disease XI	612933	C2752022	OMIM	1	206	6535	150000
HP:0002913	HP:0002913	Myoglobinuria	0	LPIN1 CL E G H	23175	268200	Myoglobinuria, acute recurrent, autosomal recessive	268200	C1849386	OMIM	1	615	13345	605518
HP:0002913	HP:0002913	Myoglobinuria	0	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0002913	HP:0002913	Myoglobinuria	0	RYR1 CL E G H	6261	145600	Malignant hyperthermia, susceptibility to, 1	145600	CN031421	OMIM	1	6164	10483	180901
HP:0002913	HP:0002913	Myoglobinuria	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	CPT2 CL E G H	1376	255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	255110	C1833508	OMIM	1	876	2330	600650
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	CPT2 CL E G H	1376	255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	255110	C1833508	OMIM	1	876	2330	600650
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	DMD CL E G H	1756	98895				ORPHA	1	8184	2928	300377
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	DMD CL E G H	1756	98895				ORPHA	1	8184	2928	300377
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	LDHA CL E G H	3939	612933	Glycogen storage disease XI	612933	C2752022	OMIM	1	206	6535	150000
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	LDHA CL E G H	3939	612933	Glycogen storage disease XI	612933	C2752022	OMIM	1	206	6535	150000
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	LPIN1 CL E G H	23175	268200	Myoglobinuria, acute recurrent, autosomal recessive	268200	C1849386	OMIM	1	615	13345	605518
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	LPIN1 CL E G H	23175	268200	Myoglobinuria, acute recurrent, autosomal recessive	268200	C1849386	OMIM	1	615	13345	605518
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	RYR1 CL E G H	6261	145600	Malignant hyperthermia, susceptibility to, 1	145600	CN031421	OMIM	1	6164	10483	180901
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	RYR1 CL E G H	6261	145600	Malignant hyperthermia, susceptibility to, 1	145600	CN031421	OMIM	1	6164	10483	180901
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002913	HP:0002913	Myoglobinuria	0	ANO5 CL E G H	203859	206549				ORPHA	0	1162	27337	608662
HP:0002913	HP:0002913	Myoglobinuria	0	CACNA1S CL E G H	779	423				ORPHA	0	1886	1397	114208
HP:0002913	HP:0002913	Myoglobinuria	0	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0002913	HP:0002913	Myoglobinuria	0	PYGM CL E G H	5837	232600	Glycogen storage disease, type V	232600	C0017924	OMIM	0	1055	9726	608455
HP:0002913	HP:0002913	Myoglobinuria	0	RYR1 CL E G H	6261	423				ORPHA	0	6164	10483	180901
HP:0002913	HP:0002913	Myoglobinuria	0	SGCB CL E G H	6443	119				ORPHA	0	500	10806	600900
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	ANO5 CL E G H	203859	206549				ORPHA	0	1162	27337	608662
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	ANO5 CL E G H	203859	206549				ORPHA	0	1162	27337	608662
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	CACNA1S CL E G H	779	423				ORPHA	0	1886	1397	114208
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	CACNA1S CL E G H	779	423				ORPHA	0	1886	1397	114208
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	PYGM CL E G H	5837	232600	Glycogen storage disease, type V	232600	C0017924	OMIM	0	1055	9726	608455
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	PYGM CL E G H	5837	232600	Glycogen storage disease, type V	232600	C0017924	OMIM	0	1055	9726	608455
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	RYR1 CL E G H	6261	423				ORPHA	0	6164	10483	180901
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	RYR1 CL E G H	6261	423				ORPHA	0	6164	10483	180901
HP:0002913	HP:0003652	Recurrent myoglobinuria	1	SGCB CL E G H	6443	119				ORPHA	0	500	10806	600900
HP:0002913	HP:0008305	Exercise-induced myoglobinuria	1	SGCB CL E G H	6443	119				ORPHA	0	500	10806	600900