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:0025065	HP:0025065	Abnormal mean corpuscular volume	0	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia		20
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease		580
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2		3
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent	13
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1		60
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory		41
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts		1
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0025065	HP:0025065	Abnormal mean corpuscular volume	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040283 - Occasional	20
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040281 - Very frequent	580
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent	580
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent	580
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040284 - Very rare	580
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	3
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent	1
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7	.	4
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1	.	60
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.	41
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	HP:0040283 - Occasional	109
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.	1
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent	1
HP:0025065	HP:0025066	Decreased mean corpuscular volume	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0025065	HP:0005518	Increased mean corpuscular volume	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1