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:0001972	HP:0001972	Macrocytic anemia	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001972	HP:0001972	Macrocytic anemia	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.	72
HP:0001972	HP:0001972	Macrocytic anemia	0	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0001972	HP:0001972	Macrocytic anemia	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	25
HP:0001972	HP:0001972	Macrocytic anemia	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001972	HP:0001972	Macrocytic anemia	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0001972	HP:0001972	Macrocytic anemia	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0001972	HP:0001972	Macrocytic anemia	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	273
HP:0001972	HP:0001972	Macrocytic anemia	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0001972	HP:0001972	Macrocytic anemia	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency		7
HP:0001972	HP:0001972	Macrocytic anemia	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0001972	HP:0001972	Macrocytic anemia	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0001972	HP:0001972	Macrocytic anemia	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0001972	HP:0001972	Macrocytic anemia	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria		65
HP:0001972	HP:0001972	Macrocytic anemia	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0001972	HP:0001972	Macrocytic anemia	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0001972	HP:0001972	Macrocytic anemia	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001972	HP:0001972	Macrocytic anemia	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001972	HP:0001972	Macrocytic anemia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001972	HP:0001972	Macrocytic anemia	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0001972	HP:0001972	Macrocytic anemia	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	3
HP:0001972	HP:0001972	Macrocytic anemia	0	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.	1
HP:0001972	HP:0001972	Macrocytic anemia	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0001972	HP:0001972	Macrocytic anemia	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001972	HP:0001972	Macrocytic anemia	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001972	HP:0001972	Macrocytic anemia	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001972	HP:0001972	Macrocytic anemia	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001972	HP:0001972	Macrocytic anemia	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0001972	HP:0001972	Macrocytic anemia	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0001972	HP:0001972	Macrocytic anemia	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0001972	HP:0001972	Macrocytic anemia	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0001972	HP:0001972	Macrocytic anemia	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0001972	HP:0001972	Macrocytic anemia	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0001972	HP:0001972	Macrocytic anemia	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0001972	HP:0001972	Macrocytic anemia	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency		37
HP:0001972	HP:0001972	Macrocytic anemia	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	36
HP:0001972	HP:0001972	Macrocytic anemia	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001972	HP:0001972	Macrocytic anemia	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0001972	HP:0001972	Macrocytic anemia	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001972	HP:0001972	Macrocytic anemia	0	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0001972	HP:0001972	Macrocytic anemia	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040284 - Very rare	13
HP:0001972	HP:0001972	Macrocytic anemia	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040284 - Very rare	8
HP:0001972	HP:0001972	Macrocytic anemia	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040284 - Very rare	16
HP:0001972	HP:0001972	Macrocytic anemia	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.	3
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001972	HP:0001972	Macrocytic anemia	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	.	20
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001972	HP:0001972	Macrocytic anemia	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001972	HP:0001972	Macrocytic anemia	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0001972	HP:0001972	Macrocytic anemia	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	HP:0040283 - Occasional	17
HP:0001972	HP:0001972	Macrocytic anemia	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001972	HP:0001972	Macrocytic anemia	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0001972	HP:0001972	Macrocytic anemia	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome		55
HP:0001972	HP:0001972	Macrocytic anemia	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001972	HP:0001972	Macrocytic anemia	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001972	HP:0001972	Macrocytic anemia	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	109
HP:0001972	HP:0001972	Macrocytic anemia	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001972	HP:0001972	Macrocytic anemia	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0001972	HP:0001972	Macrocytic anemia	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040282 - Frequent	3
HP:0001972	HP:0001972	Macrocytic anemia	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0001972	HP:0001972	Macrocytic anemia	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001972	HP:0001972	Macrocytic anemia	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.	1
HP:0001972	HP:0001972	Macrocytic anemia	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0001972	HP:0001972	Macrocytic anemia	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0001972	HP:0001972	Macrocytic anemia	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0001972	HP:0004857	Hyperchromic macrocytic anemia	1	CL E G H
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001972	HP:0001889	Megaloblastic anemia	1	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0001972	HP:0001889	Megaloblastic anemia	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	25
HP:0001972	HP:0001889	Megaloblastic anemia	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0001972	HP:0001889	Megaloblastic anemia	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	273
HP:0001972	HP:0001889	Megaloblastic anemia	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0001972	HP:0001889	Megaloblastic anemia	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0001972	HP:0001889	Megaloblastic anemia	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional	65
HP:0001972	HP:0001889	Megaloblastic anemia	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0001972	HP:0001889	Megaloblastic anemia	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0001972	HP:0001889	Megaloblastic anemia	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0001972	HP:0001889	Megaloblastic anemia	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0001972	HP:0001889	Megaloblastic anemia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101
HP:0001972	HP:0001889	Megaloblastic anemia	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001972	HP:0001889	Megaloblastic anemia	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0001972	HP:0001889	Megaloblastic anemia	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0001972	HP:0001889	Megaloblastic anemia	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0001972	HP:0001889	Megaloblastic anemia	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0001972	HP:0001889	Megaloblastic anemia	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0001972	HP:0001889	Megaloblastic anemia	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0001972	HP:0001889	Megaloblastic anemia	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0001972	HP:0004861	Refractory macrocytic anemia	1	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0001972	HP:0001889	Megaloblastic anemia	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001972	HP:0001889	Megaloblastic anemia	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0001972	HP:0001889	Megaloblastic anemia	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent	55
HP:0001972	HP:0001889	Megaloblastic anemia	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001972	HP:0001889	Megaloblastic anemia	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040281 - Very frequent	101
HP:0001972	HP:0005532	Macrocytic dyserythropoietic anemia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001972	HP:0001889	Megaloblastic anemia	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0001972	HP:0001889	Megaloblastic anemia	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389
HP:0001972	HP:0004851	Folate-responsive megaloblastic anemia	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001972	HP:0004860	Thiamine-responsive megaloblastic anemia	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0001972	HP:0004851	Folate-responsive megaloblastic anemia	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0001972	HP:0003339	Pyrimidine-responsive megaloblastic anemia	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135
HP:0001972	HP:0004826	Folate-unresponsive megaloblastic anemia	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135