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:0005502	HP:0005502	Increased red cell osmotic fragility	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040281 - Very frequent	150
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040282 - Frequent	6
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040281 - Very frequent	51
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5		51
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040282 - Frequent	5
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent	3
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent	36
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.	51
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type	.	13
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.	13
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent	13
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent	13
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent	8
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent	16
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent	109
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040281 - Very frequent	109
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.	109
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040282 - Frequent	228
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040281 - Very frequent	228
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040282 - Frequent	156
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040281 - Very frequent	156
HP:0005502	HP:0005502	Increased red cell osmotic fragility	0	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156