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:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2		3
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema		36
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis		13
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0025546	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent	580
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	3
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	.	36
HP:0025546	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent	13
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0025546	HP:0025548	Increased mean corpuscular hemoglobin concentration	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional