Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	A4GALT CL E G H	53947	18149	OMIM:111400	BLOOD GROUP, P1PK SYSTEM			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I			15
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia			20
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1			27
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1			260
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AK1 CL E G H	203	361	OMIM:612631	Adenylate kinase deficiency, hemolytic anemia due to			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked			72
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2			25
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1			356
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			385
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	C1GALT1C1 CL E G H	29071	24338	OMIM:300622	Tn polyagglutination syndrome	.		5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5			92
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2			39
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4			30
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3			57
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5			54
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to			23
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7			17
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3			128
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant			79
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			186
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4			112
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040280 - Obligate		6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPO CL E G H	2056	3415	OMIM:617907	Erythrocytosis, familial, 5			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to			12
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency			44
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.		29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant			23
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GSS CL E G H	2937	4624	OMIM:231900	Glutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to			39
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040280 - Obligate		5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA			200
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA1 CL E G H	3039	4823	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7			200
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias			200
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE			200
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA2 CL E G H	3040	4824	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:231237	Delta-beta-thalassemia			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	OMIM:617980	ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	OMIM:141749	Fetal hemoglobin quantitative trait locus 1			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:231249	Hemoglobin E-beta-thalassemia syndrome			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	OMIM:617971	Methemoglobinemia, Beta type			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBD CL E G H	3045	4829	ORPHA:231237	Delta-beta-thalassemia			52
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBG1 CL E G H	3047	4831	ORPHA:231237	Delta-beta-thalassemia			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBG1 CL E G H	3047	4831	OMIM:141749	Fetal hemoglobin quantitative trait locus 1			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBG2 CL E G H	3048	4832	OMIM:141749	Fetal hemoglobin quantitative trait locus 1			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome			76
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	HSPA9 CL E G H	3313	5244	OMIM:182170	ANEMIA, SIDEROBLASTIC, 4; SIDBA4			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia			23
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16			69
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera			57
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KHK CL E G H	3795	6315	ORPHA:2056	Essential fructosuria			49
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional		1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor			327
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KLF1 CL E G H	10661	6345	OMIM:111150	BLOOD GROUP--LUTHERAN INHIBITOR; INLU			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA			81
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency			20
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1			85
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4			220
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NT5C3A CL E G H	51251	17820	OMIM:266120	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor			337
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency			64
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2			12
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PKLR CL E G H	5313	9020	OMIM:102900	Adenosine triphosphate, elevated, of erythrocytes			51
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040283 - Occasional		51
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia			58
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency			127
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2			25
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL35 CL E G H	11224	10344	OMIM:618312	DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS27 CL E G H	6232	10416	OMIM:617409	DIAMOND-BLACKFAN ANEMIA 17; DBA17			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor			304
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor			237
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor			147
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1			60
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory			41
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040281 - Very frequent		255
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS			109
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC4A1 CL E G H	6521	11027	OMIM:166900	Ovalocytosis, hereditary hemolytic			109
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			504
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2			228
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040280 - Obligate		228
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary			228
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTA1 CL E G H	6708	11272	OMIM:270970	Spherocytosis, autosomal recessive			228
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040280 - Obligate		156
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus			78
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia			48
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia			238
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA			45
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TF CL E G H	7018	11740	ORPHA:1195	Congenital atransferrinemia			45
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6			60
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5			911
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus			56
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T			2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	HP:0040280 - Obligate		8
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001877	HP:0001877	Abnormal erythrocyte morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001877	HP:0032519	Increased Burr cell count	1	CL E G H
HP:0001877	HP:0031898	Rouleaux formation	1	CL E G H
HP:0001877	HP:0010970	Blood group antigen abnormality	1	A4GALT CL E G H	53947	18149	OMIM:111400	BLOOD GROUP, P1PK SYSTEM			9
HP:0001877	HP:0001903	Anemia	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0001877	HP:0001903	Anemia	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional		191
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia			20
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia			20
HP:0001877	HP:0001903	Anemia	1	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia			20
HP:0001877	HP:0004447	Poikilocytosis	1	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia			20
HP:0001877	HP:0001903	Anemia	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0001877	HP:0001903	Anemia	1	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040281 - Very frequent		35
HP:0001877	HP:0011902	Abnormal hemoglobin	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0001877	HP:0011902	Abnormal hemoglobin	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0001877	HP:0001903	Anemia	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0001877	HP:0001903	Anemia	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.		53
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0001877	HP:0004447	Poikilocytosis	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0001877	HP:0001903	Anemia	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0001877	HP:0001903	Anemia	1	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency	.		58
HP:0001877	HP:0001903	Anemia	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		11
HP:0001877	HP:0001903	Anemia	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001877	HP:0004447	Poikilocytosis	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0001877	HP:0001903	Anemia	1	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.		27
HP:0001877	HP:0001903	Anemia	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040283 - Occasional		49
HP:0001877	HP:0001903	Anemia	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0001877	HP:0001901	Polycythemia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0001877	HP:0001903	Anemia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0001877	HP:0001903	Anemia	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		75
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0001877	HP:0001903	Anemia	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001903	Anemia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0011902	Abnormal hemoglobin	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001903	Anemia	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0001877	HP:0001903	Anemia	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0001877	HP:0004447	Poikilocytosis	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0001877	HP:0001903	Anemia	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0001877	HP:0001903	Anemia	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001877	HP:0001903	Anemia	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001877	HP:0001903	Anemia	1	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040281 - Very frequent		260
HP:0001877	HP:0001903	Anemia	1	AK1 CL E G H	203	361	OMIM:612631	Adenylate kinase deficiency, hemolytic anemia due to			9
HP:0001877	HP:0001903	Anemia	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent		19
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent		62
HP:0001877	HP:0001903	Anemia	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0001877	HP:0001903	Anemia	1	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked			72
HP:0001877	HP:0001903	Anemia	1	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0001877	HP:0001903	Anemia	1	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040281 - Very frequent		72
HP:0001877	HP:0001903	Anemia	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0001877	HP:0001903	Anemia	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001877	HP:0001903	Anemia	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001877	HP:0001903	Anemia	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0001877	HP:0001903	Anemia	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0001877	HP:0001903	Anemia	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0001877	HP:0001903	Anemia	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		132
HP:0001877	HP:0004447	Poikilocytosis	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0001877	HP:0004447	Poikilocytosis	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001877	HP:0001903	Anemia	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001877	HP:0001903	Anemia	1	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2			25
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0001877	HP:0004447	Poikilocytosis	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0001877	HP:0001903	Anemia	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent		25
HP:0001877	HP:0001903	Anemia	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0001877	HP:0004447	Poikilocytosis	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001877	HP:0001903	Anemia	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001877	HP:0004447	Poikilocytosis	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001877	HP:0001903	Anemia	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0001877	HP:0001903	Anemia	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0001877	HP:0004447	Poikilocytosis	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0001877	HP:0001903	Anemia	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0001877	HP:0004447	Poikilocytosis	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1			356
HP:0001877	HP:0011902	Abnormal hemoglobin	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0001877	HP:0001903	Anemia	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0001877	HP:0001903	Anemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		145
HP:0001877	HP:0001903	Anemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0001877	HP:0001903	Anemia	1	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked			1
HP:0001877	HP:0001903	Anemia	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001877	HP:0001903	Anemia	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0001877	HP:0001903	Anemia	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0001877	HP:0011273	Anisocytosis	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0001877	HP:0001903	Anemia	1	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0011902	Abnormal hemoglobin	1	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0001903	Anemia	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0001877	HP:0011902	Abnormal hemoglobin	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0001877	HP:0011902	Abnormal hemoglobin	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent		169
HP:0001877	HP:0001903	Anemia	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0001877	HP:0011902	Abnormal hemoglobin	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001877	HP:0001903	Anemia	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001877	HP:0001903	Anemia	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001877	HP:0001903	Anemia	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		18
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0011902	Abnormal hemoglobin	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0001903	Anemia	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0001903	Anemia	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0001877	HP:0001903	Anemia	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0001877	HP:0011902	Abnormal hemoglobin	1	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0001877	HP:0011902	Abnormal hemoglobin	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0001877	HP:0001903	Anemia	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent		385
HP:0001877	HP:0001903	Anemia	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0001877	HP:0001903	Anemia	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040281 - Very frequent		385
HP:0001877	HP:0001903	Anemia	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0001877	HP:0001901	Polycythemia	1	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8	.		2
HP:0001877	HP:0031850	Abnormal hematocrit	1	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8			2
HP:0001877	HP:0001903	Anemia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		5769
HP:0001877	HP:0001903	Anemia	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0001877	HP:0001903	Anemia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		7642
HP:0001877	HP:0001903	Anemia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1086
HP:0001877	HP:0011902	Abnormal hemoglobin	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001877	HP:0001903	Anemia	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0001877	HP:0001903	Anemia	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional		109
HP:0001877	HP:0001903	Anemia	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0001877	HP:0001903	Anemia	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001877	HP:0001903	Anemia	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.		92
HP:0001877	HP:0001903	Anemia	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent		29
HP:0001877	HP:0004447	Poikilocytosis	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001877	HP:0001903	Anemia	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0001877	HP:0004447	Poikilocytosis	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0001877	HP:0001903	Anemia	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.		10
HP:0001877	HP:0004447	Poikilocytosis	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		1
HP:0001877	HP:0001903	Anemia	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0001877	HP:0001903	Anemia	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89			5
HP:0001877	HP:0001903	Anemia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001877	HP:0011273	Anisocytosis	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		118
HP:0001877	HP:0004447	Poikilocytosis	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		118
HP:0001877	HP:0001903	Anemia	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0001877	HP:0001903	Anemia	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0001877	HP:0001903	Anemia	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0001877	HP:0001903	Anemia	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0001877	HP:0001903	Anemia	1	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0001877	HP:0001903	Anemia	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		317
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001877	HP:0001903	Anemia	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001877	HP:0031965	Increased RBC distribution width	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001877	HP:0001903	Anemia	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent		1
HP:0001877	HP:0001901	Polycythemia	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare		1
HP:0001877	HP:0001901	Polycythemia	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0001877	HP:0001903	Anemia	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0001877	HP:0001903	Anemia	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25			8
HP:0001877	HP:0001903	Anemia	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0001877	HP:0001903	Anemia	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0001877	HP:0001903	Anemia	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0001877	HP:0001903	Anemia	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001877	HP:0001903	Anemia	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.		39
HP:0001877	HP:0001903	Anemia	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0001877	HP:0001903	Anemia	1	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy			3
HP:0001877	HP:0001903	Anemia	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0004447	Poikilocytosis	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0001877	HP:0011273	Anisocytosis	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0001877	HP:0001903	Anemia	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0001903	Anemia	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001877	HP:0001903	Anemia	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		4
HP:0001877	HP:0011273	Anisocytosis	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001877	HP:0004447	Poikilocytosis	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0001877	HP:0001903	Anemia	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001877	HP:0011902	Abnormal hemoglobin	1	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0001877	HP:0011902	Abnormal hemoglobin	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0001877	HP:0001903	Anemia	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.		30
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001877	HP:0001903	Anemia	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001877	HP:0004447	Poikilocytosis	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0001877	HP:0001903	Anemia	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0001877	HP:0004447	Poikilocytosis	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001903	Anemia	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001903	Anemia	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0004447	Poikilocytosis	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001903	Anemia	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001877	HP:0001903	Anemia	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.		57
HP:0001877	HP:0001903	Anemia	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		515
HP:0001877	HP:0001903	Anemia	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0001877	HP:0001903	Anemia	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0001877	HP:0001903	Anemia	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040282 - Frequent		102
HP:0001877	HP:0001903	Anemia	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0001877	HP:0001903	Anemia	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040283 - Occasional		102
HP:0001877	HP:0001903	Anemia	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0001877	HP:0001903	Anemia	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001877	HP:0004447	Poikilocytosis	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0001877	HP:0001903	Anemia	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0001877	HP:0001903	Anemia	1	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2
HP:0001877	HP:0001903	Anemia	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001877	HP:0001903	Anemia	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0001877	HP:0001903	Anemia	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0001877	HP:0001903	Anemia	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001877	HP:0001903	Anemia	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001877	HP:0001903	Anemia	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0001877	HP:0001903	Anemia	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040281 - Very frequent		263
HP:0001877	HP:0001903	Anemia	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0001877	HP:0001903	Anemia	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0001877	HP:0001903	Anemia	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional		263
HP:0001877	HP:0001903	Anemia	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0001877	HP:0001903	Anemia	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001877	HP:0001903	Anemia	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		104
HP:0001877	HP:0001903	Anemia	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0001877	HP:0001903	Anemia	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0001877	HP:0001903	Anemia	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0001877	HP:0001903	Anemia	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0001877	HP:0001903	Anemia	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0001877	HP:0004447	Poikilocytosis	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001877	HP:0001903	Anemia	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0001877	HP:0001903	Anemia	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0001877	HP:0001903	Anemia	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		160
HP:0001877	HP:0001903	Anemia	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0001877	HP:0001903	Anemia	1	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus			10
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0001877	HP:0004447	Poikilocytosis	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent		273
HP:0001877	HP:0001903	Anemia	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0001877	HP:0001903	Anemia	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0001877	HP:0001903	Anemia	1	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0001877	HP:0011902	Abnormal hemoglobin	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0001877	HP:0011902	Abnormal hemoglobin	1	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia			2
HP:0001877	HP:0011902	Abnormal hemoglobin	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0001877	HP:0001901	Polycythemia	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0001877	HP:0011902	Abnormal hemoglobin	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0001877	HP:0001903	Anemia	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001877	HP:0004447	Poikilocytosis	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5			54
HP:0001877	HP:0001903	Anemia	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001877	HP:0001903	Anemia	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent		80
HP:0001877	HP:0001903	Anemia	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0001877	HP:0001903	Anemia	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.		94
HP:0001877	HP:0001903	Anemia	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		94
HP:0001877	HP:0001903	Anemia	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to			23
HP:0001877	HP:0001903	Anemia	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001877	HP:0001903	Anemia	1	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7			17
HP:0001877	HP:0001903	Anemia	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0001877	HP:0001903	Anemia	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		65
HP:0001877	HP:0001903	Anemia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0001877	HP:0001903	Anemia	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		65
HP:0001877	HP:0001903	Anemia	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001877	HP:0001903	Anemia	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001877	HP:0001903	Anemia	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent		5
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0001877	HP:0001903	Anemia	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0001877	HP:0011902	Abnormal hemoglobin	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001877	HP:0011902	Abnormal hemoglobin	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0001877	HP:0001903	Anemia	1	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus			3
HP:0001877	HP:0001903	Anemia	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0001877	HP:0001903	Anemia	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		79
HP:0001877	HP:0001903	Anemia	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0001877	HP:0001903	Anemia	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		33
HP:0001877	HP:0001901	Polycythemia	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0001877	HP:0001903	Anemia	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent		1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0001877	HP:0001903	Anemia	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0001877	HP:0001901	Polycythemia	1	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3			128
HP:0001877	HP:0031850	Abnormal hematocrit	1	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3			128
HP:0001877	HP:0001903	Anemia	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001877	HP:0001903	Anemia	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.		79
HP:0001877	HP:0001903	Anemia	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001877	HP:0001903	Anemia	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0001877	HP:0001903	Anemia	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent		186
HP:0001877	HP:0001903	Anemia	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0001877	HP:0001903	Anemia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.		186
HP:0001877	HP:0001901	Polycythemia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.		186
HP:0001877	HP:0001901	Polycythemia	1	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4			112
HP:0001877	HP:0031850	Abnormal hematocrit	1	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4			112
HP:0001877	HP:0004447	Poikilocytosis	1	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0001877	HP:0001903	Anemia	1	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0001877	HP:0004447	Poikilocytosis	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		6
HP:0001877	HP:0001903	Anemia	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0001877	HP:0004447	Poikilocytosis	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001877	HP:0001903	Anemia	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0001877	HP:0001903	Anemia	1	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0001877	HP:0004447	Poikilocytosis	1	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0001877	HP:0001903	Anemia	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	HP:0040283 - Occasional		3
HP:0001877	HP:0001903	Anemia	1	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL			1
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL			1
HP:0001877	HP:0001901	Polycythemia	1	EPO CL E G H	2056	3415	OMIM:617907	Erythrocytosis, familial, 5	.		1
HP:0001877	HP:0031850	Abnormal hematocrit	1	EPO CL E G H	2056	3415	OMIM:617907	Erythrocytosis, familial, 5			1
HP:0001877	HP:0001901	Polycythemia	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent		43
HP:0001877	HP:0011902	Abnormal hemoglobin	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent		43
HP:0001877	HP:0001903	Anemia	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.		12
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to			12
HP:0001877	HP:0001903	Anemia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001877	HP:0001903	Anemia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001877	HP:0001903	Anemia	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0001877	HP:0001903	Anemia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		158
HP:0001877	HP:0001903	Anemia	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0001877	HP:0001903	Anemia	1	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.		4
HP:0001877	HP:0001903	Anemia	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0001877	HP:0001903	Anemia	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	HP:0040283 - Occasional		13
HP:0001877	HP:0001903	Anemia	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		102
HP:0001877	HP:0001903	Anemia	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional		44
HP:0001877	HP:0001903	Anemia	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional		303
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001877	HP:0001903	Anemia	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001877	HP:0001903	Anemia	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0001877	HP:0001903	Anemia	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0001877	HP:0001903	Anemia	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0001877	HP:0001903	Anemia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		340
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0001877	HP:0001903	Anemia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		58
HP:0001877	HP:0001903	Anemia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		410
HP:0001877	HP:0001903	Anemia	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001877	HP:0001903	Anemia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		147
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001877	HP:0001903	Anemia	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001877	HP:0001903	Anemia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0001877	HP:0001903	Anemia	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0001877	HP:0001903	Anemia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		87
HP:0001877	HP:0001903	Anemia	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001877	HP:0001903	Anemia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0001877	HP:0001903	Anemia	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0001877	HP:0001903	Anemia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		157
HP:0001877	HP:0001903	Anemia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		53
HP:0001877	HP:0001903	Anemia	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.		53
HP:0001877	HP:0001903	Anemia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		107
HP:0001877	HP:0001903	Anemia	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	HP:0040283 - Occasional		36
HP:0001877	HP:0001903	Anemia	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001877	HP:0001903	Anemia	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001903	Anemia	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001903	Anemia	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001903	Anemia	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0001903	Anemia	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0001903	Anemia	1	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus			6
HP:0001877	HP:0001903	Anemia	1	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus			2
HP:0001877	HP:0001903	Anemia	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001877	HP:0001903	Anemia	1	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0001877	HP:0001903	Anemia	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0001877	HP:0001903	Anemia	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional		136
HP:0001877	HP:0001903	Anemia	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.		23
HP:0001877	HP:0001903	Anemia	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0001877	HP:0001901	Polycythemia	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0001877	HP:0001903	Anemia	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0001877	HP:0001903	Anemia	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0001877	HP:0001903	Anemia	1	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria	.		55
HP:0001877	HP:0001903	Anemia	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001877	HP:0001903	Anemia	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001877	HP:0001903	Anemia	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		184
HP:0001877	HP:0001903	Anemia	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001877	HP:0001903	Anemia	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001877	HP:0001903	Anemia	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		61
HP:0001877	HP:0001903	Anemia	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0001877	HP:0001903	Anemia	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency			65
HP:0001877	HP:0001903	Anemia	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001877	HP:0004447	Poikilocytosis	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		101
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0001877	HP:0001903	Anemia	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0001877	HP:0011273	Anisocytosis	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		101
HP:0001877	HP:0001903	Anemia	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040281 - Very frequent		351
HP:0001877	HP:0001903	Anemia	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0001877	HP:0001903	Anemia	1	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0004447	Poikilocytosis	1	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.		29
HP:0001877	HP:0011273	Anisocytosis	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.		29
HP:0001877	HP:0004447	Poikilocytosis	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.		29
HP:0001877	HP:0001903	Anemia	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities			29
HP:0001877	HP:0001901	Polycythemia	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities			29
HP:0001877	HP:0001903	Anemia	1	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	HP:0040281 - Very frequent		29
HP:0001877	HP:0011902	Abnormal hemoglobin	1	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	HP:0040281 - Very frequent		29
HP:0001877	HP:0011902	Abnormal hemoglobin	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0001903	Anemia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001877	HP:0001903	Anemia	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001877	HP:0011273	Anisocytosis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001877	HP:0004447	Poikilocytosis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0001877	HP:0001903	Anemia	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0001877	HP:0011273	Anisocytosis	1	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent		29
HP:0001877	HP:0001903	Anemia	1	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia			29
HP:0001877	HP:0004447	Poikilocytosis	1	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent		29
HP:0001877	HP:0001903	Anemia	1	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia			29
HP:0001877	HP:0004447	Poikilocytosis	1	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	HP:0040283 - Occasional		29
HP:0001877	HP:0001903	Anemia	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001877	HP:0001903	Anemia	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001877	HP:0001903	Anemia	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent
HP:0001877	HP:0001903	Anemia	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0001877	HP:0001903	Anemia	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001877	HP:0001903	Anemia	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0001877	HP:0001903	Anemia	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0001877	HP:0001903	Anemia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0001877	HP:0011902	Abnormal hemoglobin	1	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001877	HP:0011902	Abnormal hemoglobin	1	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0001877	HP:0001903	Anemia	1	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto			2
HP:0001877	HP:0001903	Anemia	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0001877	HP:0001903	Anemia	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0001877	HP:0031965	Increased RBC distribution width	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17			3
HP:0001877	HP:0001903	Anemia	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.		291
HP:0001877	HP:0001903	Anemia	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0001877	HP:0001903	Anemia	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0001877	HP:0011273	Anisocytosis	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0001877	HP:0001903	Anemia	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040282 - Frequent
HP:0001877	HP:0001903	Anemia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001877	HP:0001903	Anemia	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant			23
HP:0001877	HP:0004447	Poikilocytosis	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant			23
HP:0001877	HP:0001903	Anemia	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency			1
HP:0001877	HP:0001903	Anemia	1	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency			1
HP:0001877	HP:0001903	Anemia	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0001877	HP:0001903	Anemia	1	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY			1
HP:0001877	HP:0001903	Anemia	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0001877	HP:0001903	Anemia	1	GSS CL E G H	2937	4624	OMIM:231900	Glutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to			39
HP:0001877	HP:0001903	Anemia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001877	HP:0001903	Anemia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0001877	HP:0001903	Anemia	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0001877	HP:0004447	Poikilocytosis	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		5
HP:0001877	HP:0001903	Anemia	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.		15
HP:0001877	HP:0001903	Anemia	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	HP:0040284 - Very rare
HP:0001877	HP:0001903	Anemia	1	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA			200
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA			200
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001877	HP:0001903	Anemia	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001877	HP:0001901	Polycythemia	1	HBA1 CL E G H	3039	4823	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7			200
HP:0001877	HP:0031850	Abnormal hematocrit	1	HBA1 CL E G H	3039	4823	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7			200
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent		200
HP:0001877	HP:0001903	Anemia	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent		200
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias			200
HP:0001877	HP:0001903	Anemia	1	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias			200
HP:0001877	HP:0001903	Anemia	1	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE			200
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA			88
HP:0001877	HP:0001903	Anemia	1	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA			88
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001877	HP:0001903	Anemia	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001877	HP:0001901	Polycythemia	1	HBA2 CL E G H	3040	4824	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7			88
HP:0001877	HP:0031850	Abnormal hematocrit	1	HBA2 CL E G H	3040	4824	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7			88
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent		88
HP:0001877	HP:0001903	Anemia	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent		88
HP:0001877	HP:0001903	Anemia	1	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias			88
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias			88
HP:0001877	HP:0001903	Anemia	1	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA			580
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0001877	HP:0004447	Poikilocytosis	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		580
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001877	HP:0011273	Anisocytosis	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent		580
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001877	HP:0031850	Abnormal hematocrit	1	HBB CL E G H	3043	4827	OMIM:617980	ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6			580
HP:0001877	HP:0001901	Polycythemia	1	HBB CL E G H	3043	4827	OMIM:617980	ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	OMIM:141749	Fetal hemoglobin quantitative trait locus 1			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias			580
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0004447	Poikilocytosis	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent		580
HP:0001877	HP:0020058	Abnormal red blood cell count	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:231249	Hemoglobin E-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:231249	Hemoglobin E-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	OMIM:617971	Methemoglobinemia, Beta type			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0001877	HP:0004447	Poikilocytosis	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0001877	HP:0001903	Anemia	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA			1
HP:0001877	HP:0001903	Anemia	1	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA			1
HP:0001877	HP:0001903	Anemia	1	HBD CL E G H	3045	4829	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		52
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBD CL E G H	3045	4829	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		52
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBG1 CL E G H	3047	4831	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		35
HP:0001877	HP:0001903	Anemia	1	HBG1 CL E G H	3047	4831	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		35
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBG1 CL E G H	3047	4831	OMIM:141749	Fetal hemoglobin quantitative trait locus 1			35
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			35
HP:0001877	HP:0001903	Anemia	1	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		35
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0001903	Anemia	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0001903	Anemia	1	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	HP:0040283 - Occasional		50
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal			50
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal			50
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBG2 CL E G H	3048	4832	OMIM:141749	Fetal hemoglobin quantitative trait locus 1			50
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			50
HP:0001877	HP:0001903	Anemia	1	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		50
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0001903	Anemia	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0001903	Anemia	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001877	HP:0001903	Anemia	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001877	HP:0001903	Anemia	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		6
HP:0001877	HP:0001903	Anemia	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0001877	HP:0001903	Anemia	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0001877	HP:0001903	Anemia	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0001877	HP:0001903	Anemia	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001877	HP:0001903	Anemia	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001877	HP:0001903	Anemia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0001877	HP:0001903	Anemia	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0001877	HP:0001903	Anemia	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0001877	HP:0001903	Anemia	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0001877	HP:0011902	Abnormal hemoglobin	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0001877	HP:0001903	Anemia	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0001877	HP:0001903	Anemia	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001877	HP:0001903	Anemia	1	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040282 - Frequent		76
HP:0001877	HP:0031850	Abnormal hematocrit	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001877	HP:0001903	Anemia	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001877	HP:0001903	Anemia	1	HSPA9 CL E G H	3313	5244	OMIM:182170	ANEMIA, SIDEROBLASTIC, 4; SIDBA4			6
HP:0001877	HP:0001903	Anemia	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0001877	HP:0001903	Anemia	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional		15
HP:0001877	HP:0001903	Anemia	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional		29
HP:0001877	HP:0001903	Anemia	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia			23
HP:0001877	HP:0001903	Anemia	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040280 - Obligate		23
HP:0001877	HP:0001903	Anemia	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0001877	HP:0001903	Anemia	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0001877	HP:0001903	Anemia	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0001877	HP:0001903	Anemia	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		7
HP:0001877	HP:0001903	Anemia	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0001877	HP:0001903	Anemia	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0001877	HP:0001903	Anemia	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001877	HP:0001903	Anemia	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0001877	HP:0001903	Anemia	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001877	HP:0001903	Anemia	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		48
HP:0001877	HP:0001903	Anemia	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0001877	HP:0001903	Anemia	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001877	HP:0001903	Anemia	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		94
HP:0001877	HP:0011902	Abnormal hemoglobin	1	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0001877	HP:0011902	Abnormal hemoglobin	1	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0001877	HP:0001903	Anemia	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001877	HP:0001903	Anemia	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0001877	HP:0001903	Anemia	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0001877	HP:0001903	Anemia	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0001877	HP:0001903	Anemia	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0001877	HP:0001903	Anemia	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0001877	HP:0001903	Anemia	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001877	HP:0001903	Anemia	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0001877	HP:0001903	Anemia	1	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16	.		69
HP:0001877	HP:0001903	Anemia	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0001877	HP:0001903	Anemia	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0001877	HP:0031850	Abnormal hematocrit	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0001877	HP:0001901	Polycythemia	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0001877	HP:0001901	Polycythemia	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera			57
HP:0001877	HP:0031850	Abnormal hematocrit	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera			57
HP:0001877	HP:0001903	Anemia	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0001877	HP:0004447	Poikilocytosis	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		57
HP:0001877	HP:0001903	Anemia	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001877	HP:0001903	Anemia	1	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0001877	HP:0004447	Poikilocytosis	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0001877	HP:0011902	Abnormal hemoglobin	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0001877	HP:0011902	Abnormal hemoglobin	1	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0001877	HP:0011902	Abnormal hemoglobin	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0001877	HP:0004447	Poikilocytosis	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0001877	HP:0001901	Polycythemia	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare		3
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0001877	HP:0001903	Anemia	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0001877	HP:0001903	Anemia	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0001877	HP:0004447	Poikilocytosis	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0001877	HP:0001903	Anemia	1	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0001877	HP:0001903	Anemia	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	KHK CL E G H	3795	6315	ORPHA:2056	Essential fructosuria	HP:0040281 - Very frequent		49
HP:0001877	HP:0001903	Anemia	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0001877	HP:0001903	Anemia	1	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III			1
HP:0001877	HP:0004447	Poikilocytosis	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040281 - Very frequent		1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0001877	HP:0001903	Anemia	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040281 - Very frequent		1
HP:0001877	HP:0011273	Anisocytosis	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040281 - Very frequent		1
HP:0001877	HP:0001903	Anemia	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		327
HP:0001877	HP:0001903	Anemia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0001877	HP:0004447	Poikilocytosis	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0031850	Abnormal hematocrit	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0001903	Anemia	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0033281	Circulating nucleated red blood cells	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0031965	Increased RBC distribution width	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0011273	Anisocytosis	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0011902	Abnormal hemoglobin	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0010970	Blood group antigen abnormality	1	KLF1 CL E G H	10661	6345	OMIM:111150	BLOOD GROUP--LUTHERAN INHIBITOR; INLU			42
HP:0001877	HP:0001903	Anemia	1	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		42
HP:0001877	HP:0011902	Abnormal hemoglobin	1	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			42
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0001903	Anemia	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0011902	Abnormal hemoglobin	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0011902	Abnormal hemoglobin	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0001877	HP:0001903	Anemia	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001877	HP:0001903	Anemia	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0001877	HP:0001903	Anemia	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0001877	HP:0001903	Anemia	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0001877	HP:0001903	Anemia	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0001877	HP:0001903	Anemia	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0001877	HP:0001903	Anemia	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0001877	HP:0001903	Anemia	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0001877	HP:0001903	Anemia	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0001877	HP:0001903	Anemia	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0001877	HP:0001903	Anemia	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001877	HP:0001903	Anemia	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001877	HP:0001903	Anemia	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0001877	HP:0001903	Anemia	1	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency			26
HP:0001877	HP:0001903	Anemia	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0001877	HP:0001903	Anemia	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		1
HP:0001877	HP:0001903	Anemia	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0001877	HP:0001903	Anemia	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		88
HP:0001877	HP:0001903	Anemia	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001877	HP:0001903	Anemia	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040282 - Frequent		73
HP:0001877	HP:0001903	Anemia	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		21
HP:0001877	HP:0001903	Anemia	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0001877	HP:0001903	Anemia	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001877	HP:0001903	Anemia	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001877	HP:0001903	Anemia	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001877	HP:0001903	Anemia	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001877	HP:0001903	Anemia	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0001877	HP:0001903	Anemia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0001877	HP:0001903	Anemia	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0001877	HP:0001903	Anemia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0001903	Anemia	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.		1
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0001877	HP:0001903	Anemia	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		6
HP:0001877	HP:0001903	Anemia	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0001877	HP:0011902	Abnormal hemoglobin	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0001877	HP:0001903	Anemia	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0001877	HP:0001903	Anemia	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0001877	HP:0001903	Anemia	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0001877	HP:0001903	Anemia	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional		281
HP:0001877	HP:0001903	Anemia	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0001877	HP:0001903	Anemia	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0001877	HP:0001903	Anemia	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0001877	HP:0001903	Anemia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001877	HP:0001903	Anemia	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0001877	HP:0001903	Anemia	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0001877	HP:0001903	Anemia	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0001877	HP:0001903	Anemia	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0001877	HP:0001903	Anemia	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis	.		1
HP:0001877	HP:0004447	Poikilocytosis	1	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis			1
HP:0001877	HP:0011902	Abnormal hemoglobin	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040281 - Very frequent		97
HP:0001877	HP:0001903	Anemia	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent		97
HP:0001877	HP:0004447	Poikilocytosis	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		97
HP:0001877	HP:0001903	Anemia	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0001877	HP:0001903	Anemia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001877	HP:0001903	Anemia	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0001903	Anemia	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		29
HP:0001877	HP:0001903	Anemia	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0001877	HP:0001903	Anemia	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0001877	HP:0001903	Anemia	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0001877	HP:0001903	Anemia	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001877	HP:0001903	Anemia	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0001877	HP:0004447	Poikilocytosis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001877	HP:0004447	Poikilocytosis	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA			81
HP:0001877	HP:0011902	Abnormal hemoglobin	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001877	HP:0001903	Anemia	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.		1
HP:0001877	HP:0001903	Anemia	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001877	HP:0001903	Anemia	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0001877	HP:0001903	Anemia	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0001877	HP:0001903	Anemia	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040281 - Very frequent
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001877	HP:0001901	Polycythemia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001877	HP:0001903	Anemia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001877	HP:0001903	Anemia	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001877	HP:0011902	Abnormal hemoglobin	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0001877	HP:0001903	Anemia	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001877	HP:0001903	Anemia	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0001877	HP:0001903	Anemia	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		91
HP:0001877	HP:0001903	Anemia	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		7
HP:0001877	HP:0001903	Anemia	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		3
HP:0001877	HP:0001903	Anemia	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		19
HP:0001877	HP:0001903	Anemia	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		4
HP:0001877	HP:0001903	Anemia	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0001877	HP:0001903	Anemia	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		26
HP:0001877	HP:0001903	Anemia	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0001877	HP:0001903	Anemia	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		34
HP:0001877	HP:0001903	Anemia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		39
HP:0001877	HP:0001903	Anemia	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001877	HP:0001903	Anemia	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		81
HP:0001877	HP:0001903	Anemia	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0001877	HP:0001903	Anemia	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		65
HP:0001877	HP:0001903	Anemia	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		22
HP:0001877	HP:0001903	Anemia	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0001877	HP:0001903	Anemia	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		38
HP:0001877	HP:0001903	Anemia	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		42
HP:0001877	HP:0001903	Anemia	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		74
HP:0001877	HP:0001903	Anemia	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0001877	HP:0011902	Abnormal hemoglobin	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0001877	HP:0001903	Anemia	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0001877	HP:0001903	Anemia	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0001877	HP:0001903	Anemia	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0001877	HP:0001903	Anemia	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040282 - Frequent		20
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001877	HP:0001903	Anemia	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001877	HP:0011273	Anisocytosis	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0001877	HP:0004447	Poikilocytosis	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001877	HP:0001903	Anemia	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		27
HP:0001877	HP:0001903	Anemia	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001877	HP:0001903	Anemia	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001877	HP:0001903	Anemia	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent		217
HP:0001877	HP:0001903	Anemia	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0001877	HP:0001903	Anemia	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0001877	HP:0001903	Anemia	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0001877	HP:0001903	Anemia	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		17
HP:0001877	HP:0001903	Anemia	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.		85
HP:0001877	HP:0001903	Anemia	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.		85
HP:0001877	HP:0001903	Anemia	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.		220
HP:0001877	HP:0001903	Anemia	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0001877	HP:0001903	Anemia	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0001877	HP:0001903	Anemia	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		12
HP:0001877	HP:0001903	Anemia	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0001877	HP:0011902	Abnormal hemoglobin	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001877	HP:0001903	Anemia	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0001877	HP:0001903	Anemia	1	NT5C3A CL E G H	51251	17820	OMIM:266120	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to			10
HP:0001877	HP:0001903	Anemia	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0001877	HP:0001903	Anemia	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001877	HP:0001903	Anemia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0001877	HP:0001903	Anemia	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0001877	HP:0001903	Anemia	1	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent		19
HP:0001877	HP:0001903	Anemia	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0001877	HP:0001903	Anemia	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	HP:0040284 - Very rare
HP:0001877	HP:0001903	Anemia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1349
HP:0001877	HP:0004447	Poikilocytosis	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration			55
HP:0001877	HP:0004447	Poikilocytosis	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0001877	HP:0001903	Anemia	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		26
HP:0001877	HP:0001903	Anemia	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		26
HP:0001877	HP:0001903	Anemia	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001877	HP:0011902	Abnormal hemoglobin	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0001877	HP:0001903	Anemia	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001877	HP:0001903	Anemia	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0001877	HP:0001903	Anemia	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0001877	HP:0001903	Anemia	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional		531
HP:0001877	HP:0001903	Anemia	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		337
HP:0001877	HP:0001903	Anemia	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		88
HP:0001877	HP:0011902	Abnormal hemoglobin	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0001877	HP:0001903	Anemia	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0001877	HP:0001903	Anemia	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		6
HP:0001877	HP:0001903	Anemia	1	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0040281 - Very frequent		64
HP:0001877	HP:0001903	Anemia	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0001877	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.		64
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0001903	Anemia	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0001903	Anemia	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0001903	Anemia	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001877	HP:0001903	Anemia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0001877	HP:0001903	Anemia	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		2
HP:0001877	HP:0001903	Anemia	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001877	HP:0001903	Anemia	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0001877	HP:0001903	Anemia	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040281 - Very frequent		54
HP:0001877	HP:0001903	Anemia	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040281 - Very frequent		48
HP:0001877	HP:0001903	Anemia	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0001877	HP:0001903	Anemia	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001877	HP:0001901	Polycythemia	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare		36
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0001877	HP:0004447	Poikilocytosis	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0001877	HP:0001903	Anemia	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0001877	HP:0025546	Abnormal 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:0001877	HP:0001903	Anemia	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0001877	HP:0001903	Anemia	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040281 - Very frequent		46
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040280 - Obligate		46
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0001877	HP:0001903	Anemia	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2			12
HP:0001877	HP:0001903	Anemia	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0001877	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	1	PKLR CL E G H	5313	9020	OMIM:102900	Adenosine triphosphate, elevated, of erythrocytes	.		51
HP:0001877	HP:0001901	Polycythemia	1	PKLR CL E G H	5313	9020	OMIM:102900	Adenosine triphosphate, elevated, of erythrocytes	.		51
HP:0001877	HP:0001903	Anemia	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040281 - Very frequent		51
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0001877	HP:0011273	Anisocytosis	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040283 - Occasional		51
HP:0001877	HP:0004447	Poikilocytosis	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040283 - Occasional		51
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0001903	Anemia	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0001903	Anemia	1	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP			2
HP:0001877	HP:0001903	Anemia	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0001877	HP:0001903	Anemia	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040283 - Occasional		2
HP:0001877	HP:0001903	Anemia	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0001877	HP:0001903	Anemia	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0001903	Anemia	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0001903	Anemia	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0001903	Anemia	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001877	HP:0001903	Anemia	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0001877	HP:0001903	Anemia	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		464
HP:0001877	HP:0001903	Anemia	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0001877	HP:0001903	Anemia	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040284 - Very rare		41
HP:0001877	HP:0001903	Anemia	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001877	HP:0001903	Anemia	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		58
HP:0001877	HP:0001903	Anemia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia			58
HP:0001877	HP:0001903	Anemia	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040280 - Obligate		58
HP:0001877	HP:0001903	Anemia	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001877	HP:0001903	Anemia	1	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.		2
HP:0001877	HP:0001903	Anemia	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0001877	HP:0001903	Anemia	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0001877	HP:0001903	Anemia	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0001877	HP:0001903	Anemia	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0001877	HP:0001903	Anemia	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0001877	HP:0001903	Anemia	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0001877	HP:0001903	Anemia	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001877	HP:0001903	Anemia	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0001877	HP:0001903	Anemia	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001877	HP:0001903	Anemia	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001877	HP:0001903	Anemia	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0001877	HP:0001903	Anemia	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040281 - Very frequent		948
HP:0001877	HP:0001903	Anemia	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0001877	HP:0001903	Anemia	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional		58
HP:0001877	HP:0001903	Anemia	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0001877	HP:0001903	Anemia	1	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus			3
HP:0001877	HP:0001903	Anemia	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		57
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001877	HP:0001903	Anemia	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001877	HP:0001903	Anemia	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001877	HP:0001903	Anemia	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001877	HP:0001903	Anemia	1	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0001877	HP:0004447	Poikilocytosis	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040281 - Very frequent
HP:0001877	HP:0011273	Anisocytosis	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040281 - Very frequent
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0001877	HP:0001903	Anemia	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040281 - Very frequent
HP:0001877	HP:0001903	Anemia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		9
HP:0001877	HP:0001903	Anemia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		391
HP:0001877	HP:0001903	Anemia	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency			127
HP:0001877	HP:0001903	Anemia	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		127
HP:0001877	HP:0001903	Anemia	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.		127
HP:0001877	HP:0001903	Anemia	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0001877	HP:0001903	Anemia	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.		50
HP:0001877	HP:0001903	Anemia	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		50
HP:0001877	HP:0001903	Anemia	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0001877	HP:0001903	Anemia	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0001877	HP:0001903	Anemia	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001877	HP:0001903	Anemia	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001877	HP:0001903	Anemia	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001877	HP:0001903	Anemia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001877	HP:0001903	Anemia	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0001877	HP:0001903	Anemia	1	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.		25
HP:0001877	HP:0001903	Anemia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0001877	HP:0001903	Anemia	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0001877	HP:0001903	Anemia	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0001877	HP:0001903	Anemia	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0001877	HP:0001903	Anemia	1	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type			13
HP:0001877	HP:0004447	Poikilocytosis	1	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type			13
HP:0001877	HP:0001903	Anemia	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0004447	Poikilocytosis	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0004447	Poikilocytosis	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0011273	Anisocytosis	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040283 - Occasional		13
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent		13
HP:0001877	HP:0001903	Anemia	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001877	HP:0001903	Anemia	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001877	HP:0004447	Poikilocytosis	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001877	HP:0011273	Anisocytosis	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0001877	HP:0011273	Anisocytosis	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001877	HP:0004447	Poikilocytosis	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001877	HP:0001903	Anemia	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001877	HP:0011273	Anisocytosis	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001877	HP:0004447	Poikilocytosis	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001877	HP:0001903	Anemia	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001877	HP:0001903	Anemia	1	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001877	HP:0001903	Anemia	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional		37
HP:0001877	HP:0001903	Anemia	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001877	HP:0001903	Anemia	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		37
HP:0001877	HP:0001903	Anemia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001877	HP:0001903	Anemia	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001877	HP:0001903	Anemia	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0001877	HP:0001903	Anemia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001877	HP:0001903	Anemia	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001903	Anemia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001877	HP:0001903	Anemia	1	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001903	Anemia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001903	Anemia	1	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001903	Anemia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001903	Anemia	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	HP:0040280 - Obligate		3
HP:0001877	HP:0001903	Anemia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001903	Anemia	1	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16	.		1
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001903	Anemia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001903	Anemia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL35 CL E G H	11224	10344	OMIM:618312	DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0001877	HP:0001903	Anemia	1	RPL35 CL E G H	11224	10344	OMIM:618312	DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0001877	HP:0001903	Anemia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001877	HP:0001903	Anemia	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001877	HP:0001903	Anemia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001877	HP:0001903	Anemia	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0001903	Anemia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0001903	Anemia	1	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9	.		26
HP:0001877	HP:0001903	Anemia	1	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001877	HP:0001903	Anemia	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001877	HP:0011273	Anisocytosis	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001903	Anemia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0001877	HP:0001903	Anemia	1	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0001903	Anemia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0001903	Anemia	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0001903	Anemia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001877	HP:0001903	Anemia	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001903	Anemia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001903	Anemia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0001903	Anemia	1	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0001903	Anemia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001877	HP:0001903	Anemia	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	.		20
HP:0001877	HP:0001903	Anemia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001903	Anemia	1	RPS27 CL E G H	6232	10416	OMIM:617409	DIAMOND-BLACKFAN ANEMIA 17; DBA17			1
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001903	Anemia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001903	Anemia	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0001877	HP:0001903	Anemia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13			3
HP:0001877	HP:0001903	Anemia	1	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13			3
HP:0001877	HP:0001903	Anemia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0011902	Abnormal hemoglobin	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0001903	Anemia	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital			9
HP:0001877	HP:0001903	Anemia	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		125
HP:0001877	HP:0001903	Anemia	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		77
HP:0001877	HP:0001903	Anemia	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		77
HP:0001877	HP:0001903	Anemia	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		181
HP:0001877	HP:0001903	Anemia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0001877	HP:0001903	Anemia	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2			8
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2			8
HP:0001877	HP:0001903	Anemia	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0001877	HP:0001903	Anemia	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7			4
HP:0001877	HP:0004447	Poikilocytosis	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0001877	HP:0001903	Anemia	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0001877	HP:0001903	Anemia	1	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia			26
HP:0001877	HP:0001903	Anemia	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040280 - Obligate		26
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0001877	HP:0001903	Anemia	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent		26
HP:0001877	HP:0011902	Abnormal hemoglobin	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001877	HP:0001903	Anemia	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0001877	HP:0004447	Poikilocytosis	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0001877	HP:0004447	Poikilocytosis	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0001877	HP:0001903	Anemia	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent		77
HP:0001877	HP:0001903	Anemia	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0001877	HP:0001903	Anemia	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		304
HP:0001877	HP:0001903	Anemia	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		304
HP:0001877	HP:0001903	Anemia	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		237
HP:0001877	HP:0001903	Anemia	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		147
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0001877	HP:0001903	Anemia	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0001877	HP:0001903	Anemia	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	HP:0003577 - Congenital onset	2
HP:0001877	HP:0001903	Anemia	1	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency			4
HP:0001877	HP:0001903	Anemia	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0001877	HP:0001903	Anemia	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0001877	HP:0001901	Polycythemia	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0001877	HP:0031850	Abnormal hematocrit	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0001877	HP:0001903	Anemia	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1			60
HP:0001877	HP:0001903	Anemia	1	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1	.		60
HP:0001877	HP:0001903	Anemia	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001877	HP:0004447	Poikilocytosis	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0001903	Anemia	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0001903	Anemia	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0001903	Anemia	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0001903	Anemia	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		110
HP:0001877	HP:0001903	Anemia	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0001877	HP:0001903	Anemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional		82
HP:0001877	HP:0001903	Anemia	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory			41
HP:0001877	HP:0001903	Anemia	1	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.		41
HP:0001877	HP:0001903	Anemia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0001877	HP:0001903	Anemia	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0001877	HP:0004447	Poikilocytosis	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0001877	HP:0001903	Anemia	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0001877	HP:0001903	Anemia	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0001877	HP:0001901	Polycythemia	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0001877	HP:0001901	Polycythemia	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0001877	HP:0001903	Anemia	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent		71
HP:0001877	HP:0001903	Anemia	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001877	HP:0001903	Anemia	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0001877	HP:0001903	Anemia	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4	.		56
HP:0001877	HP:0001903	Anemia	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0001877	HP:0001903	Anemia	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0001877	HP:0001903	Anemia	1	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS			109
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS			109
HP:0001877	HP:0004447	Poikilocytosis	1	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS			109
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0001877	HP:0001901	Polycythemia	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare		109
HP:0001877	HP:0004447	Poikilocytosis	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0001877	HP:0001903	Anemia	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0001877	HP:0020061	Abnormal hemoglobin concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0001877	HP:0001903	Anemia	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001877	HP:0004447	Poikilocytosis	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001877	HP:0004447	Poikilocytosis	1	SLC4A1 CL E G H	6521	11027	OMIM:166900	Ovalocytosis, hereditary hemolytic			109
HP:0001877	HP:0001903	Anemia	1	SLC4A1 CL E G H	6521	11027	OMIM:166900	Ovalocytosis, hereditary hemolytic			109
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001877	HP:0001903	Anemia	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001877	HP:0001903	Anemia	1	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0001877	HP:0004447	Poikilocytosis	1	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0001877	HP:0001903	Anemia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0001877	HP:0001903	Anemia	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0001877	HP:0001903	Anemia	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0001877	HP:0001903	Anemia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		274
HP:0001877	HP:0001903	Anemia	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	.		274
HP:0001877	HP:0001903	Anemia	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent		504
HP:0001877	HP:0001903	Anemia	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0001877	HP:0001903	Anemia	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0001877	HP:0001903	Anemia	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	.		504
HP:0001877	HP:0001903	Anemia	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0001877	HP:0001903	Anemia	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent		74
HP:0001877	HP:0001903	Anemia	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001877	HP:0001903	Anemia	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001877	HP:0001903	Anemia	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0001877	HP:0001903	Anemia	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0001877	HP:0001903	Anemia	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0001877	HP:0001903	Anemia	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0001877	HP:0001903	Anemia	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional		49
HP:0001877	HP:0001903	Anemia	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001877	HP:0004447	Poikilocytosis	1	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2			228
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2			228
HP:0001877	HP:0001903	Anemia	1	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2			228
HP:0001877	HP:0001903	Anemia	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0001877	HP:0004447	Poikilocytosis	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		228
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0001877	HP:0004447	Poikilocytosis	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001877	HP:0001903	Anemia	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001877	HP:0001903	Anemia	1	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary			228
HP:0001877	HP:0004447	Poikilocytosis	1	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary			228
HP:0001877	HP:0001903	Anemia	1	SPTA1 CL E G H	6708	11272	OMIM:270970	Spherocytosis, autosomal recessive			228
HP:0001877	HP:0004447	Poikilocytosis	1	SPTA1 CL E G H	6708	11272	OMIM:270970	Spherocytosis, autosomal recessive			228
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0001903	Anemia	1	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0004447	Poikilocytosis	1	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0004447	Poikilocytosis	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		156
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0001877	HP:0001903	Anemia	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0001877	HP:0004447	Poikilocytosis	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001877	HP:0001903	Anemia	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0001903	Anemia	1	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0004447	Poikilocytosis	1	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0001903	Anemia	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0001877	HP:0001903	Anemia	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001877	HP:0001903	Anemia	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent
HP:0001877	HP:0001903	Anemia	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001877	HP:0011902	Abnormal hemoglobin	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001877	HP:0001903	Anemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		1
HP:0001877	HP:0001903	Anemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0001877	HP:0001903	Anemia	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001877	HP:0001903	Anemia	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001877	HP:0001903	Anemia	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0001877	HP:0001903	Anemia	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0001877	HP:0001903	Anemia	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001877	HP:0001903	Anemia	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0001877	HP:0001903	Anemia	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0001877	HP:0001903	Anemia	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0001877	HP:0004447	Poikilocytosis	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.		1
HP:0001877	HP:0001903	Anemia	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.		1
HP:0001877	HP:0004447	Poikilocytosis	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0001877	HP:0012134	Dysplastic erythropoesis	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040283 - Occasional		1
HP:0001877	HP:0001903	Anemia	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040281 - Very frequent		1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0001877	HP:0001903	Anemia	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0001877	HP:0001903	Anemia	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0001877	HP:0020080	Erythrocyte inclusion bodies	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0001877	HP:0001903	Anemia	1	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent		31
HP:0001877	HP:0001903	Anemia	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001877	HP:0001903	Anemia	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0001877	HP:0001903	Anemia	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional		740
HP:0001877	HP:0001903	Anemia	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		85
HP:0001877	HP:0001903	Anemia	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0001877	HP:0001903	Anemia	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		70
HP:0001877	HP:0001903	Anemia	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0001877	HP:0001903	Anemia	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0001877	HP:0001903	Anemia	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		73
HP:0001877	HP:0001903	Anemia	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0001877	HP:0001903	Anemia	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0001877	HP:0001903	Anemia	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		23
HP:0001877	HP:0001903	Anemia	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001877	HP:0001903	Anemia	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent		34
HP:0001877	HP:0001903	Anemia	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001877	HP:0025546	Abnormal mean corpuscular hemoglobin concentration	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001877	HP:0001903	Anemia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.		52
HP:0001877	HP:0001903	Anemia	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0001877	HP:0001903	Anemia	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001877	HP:0001903	Anemia	1	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040281 - Very frequent		16
HP:0001877	HP:0001903	Anemia	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0001877	HP:0001903	Anemia	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0001877	HP:0001903	Anemia	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0001877	HP:0001903	Anemia	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040283 - Occasional		82
HP:0001877	HP:0001903	Anemia	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0001877	HP:0001903	Anemia	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0001877	HP:0001903	Anemia	1	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus			78
HP:0001877	HP:0001903	Anemia	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		48
HP:0001877	HP:0001903	Anemia	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0001877	HP:0001903	Anemia	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040280 - Obligate		48
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia			48
HP:0001877	HP:0001903	Anemia	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		238
HP:0001877	HP:0001903	Anemia	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0001877	HP:0001903	Anemia	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		238
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia			238
HP:0001877	HP:0001903	Anemia	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040280 - Obligate		238
HP:0001877	HP:0001903	Anemia	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0001877	HP:0001903	Anemia	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0001877	HP:0001903	Anemia	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		3
HP:0001877	HP:0001903	Anemia	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0001877	HP:0004447	Poikilocytosis	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		3
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia			3
HP:0001877	HP:0001903	Anemia	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia			3
HP:0001877	HP:0001903	Anemia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0001877	HP:0001903	Anemia	1	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA			45
HP:0001877	HP:0001903	Anemia	1	TF CL E G H	7018	11740	ORPHA:1195	Congenital atransferrinemia	HP:0040281 - Very frequent		45
HP:0001877	HP:0001903	Anemia	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.		67
HP:0001877	HP:0001903	Anemia	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0001877	HP:0001903	Anemia	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0001877	HP:0001903	Anemia	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001877	HP:0001903	Anemia	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0001877	HP:0001903	Anemia	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.		60
HP:0001877	HP:0011902	Abnormal hemoglobin	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040281 - Very frequent		23
HP:0001877	HP:0001903	Anemia	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent		23
HP:0001877	HP:0001903	Anemia	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0001877	HP:0001903	Anemia	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		60
HP:0001877	HP:0001903	Anemia	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0001877	HP:0001903	Anemia	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		60
HP:0001877	HP:0001903	Anemia	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001877	HP:0001903	Anemia	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001877	HP:0001903	Anemia	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0001877	HP:0001903	Anemia	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0001877	HP:0001903	Anemia	1	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA			65
HP:0001877	HP:0004447	Poikilocytosis	1	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA			65
HP:0001877	HP:0011273	Anisocytosis	1	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA			65
HP:0001877	HP:0001903	Anemia	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0001877	HP:0001903	Anemia	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0001877	HP:0001903	Anemia	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0001877	HP:0001903	Anemia	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0001877	HP:0001903	Anemia	1	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0001877	HP:0001903	Anemia	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0001877	HP:0001903	Anemia	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0001877	HP:0001903	Anemia	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0001903	Anemia	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001877	HP:0001903	Anemia	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001877	HP:0004447	Poikilocytosis	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5			911
HP:0001877	HP:0001903	Anemia	1	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.		911
HP:0001877	HP:0001903	Anemia	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001877	HP:0001903	Anemia	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001877	HP:0001903	Anemia	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001877	HP:0001903	Anemia	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0001877	HP:0001903	Anemia	1	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus			56
HP:0001877	HP:0011902	Abnormal hemoglobin	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001877	HP:0001903	Anemia	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001877	HP:0001903	Anemia	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0001903	Anemia	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001877	HP:0001903	Anemia	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0004447	Poikilocytosis	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis	.		28
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0001877	HP:0011273	Anisocytosis	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0001877	HP:0001903	Anemia	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0001877	HP:0001903	Anemia	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0004447	Poikilocytosis	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0001903	Anemia	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001877	HP:0011902	Abnormal hemoglobin	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001903	Anemia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0025065	Abnormal mean corpuscular volume	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001903	Anemia	1	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0001877	HP:0001903	Anemia	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001877	HP:0001903	Anemia	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001877	HP:0001903	Anemia	1	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001877	HP:0001903	Anemia	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		138
HP:0001877	HP:0001903	Anemia	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001877	HP:0001903	Anemia	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		1
HP:0001877	HP:0001903	Anemia	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0001877	HP:0001903	Anemia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		2
HP:0001877	HP:0001903	Anemia	1	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.		2
HP:0001877	HP:0001903	Anemia	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent		25
HP:0001877	HP:0001903	Anemia	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040281 - Very frequent		135
HP:0001877	HP:0001903	Anemia	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001877	HP:0011273	Anisocytosis	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.		135
HP:0001877	HP:0004447	Poikilocytosis	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.		135
HP:0001877	HP:0001903	Anemia	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		116
HP:0001877	HP:0001903	Anemia	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0001877	HP:0001903	Anemia	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001877	HP:0001903	Anemia	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0001877	HP:0001903	Anemia	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0001877	HP:0001903	Anemia	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001877	HP:0004312	Abnormal reticulocyte morphology	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001877	HP:0011273	Anisocytosis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0001877	HP:0012131	Abnormal number of erythroid precursors	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001877	HP:0004447	Poikilocytosis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0001877	HP:0001903	Anemia	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0001877	HP:0001903	Anemia	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		8
HP:0001877	HP:0031850	Abnormal hematocrit	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0001877	HP:0001901	Polycythemia	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0001877	HP:0001901	Polycythemia	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare		490
HP:0001877	HP:0001901	Polycythemia	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0001877	HP:0030272	Abnormal erythrocyte enzyme level	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent		130
HP:0001877	HP:0004447	Poikilocytosis	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0001877	HP:0004447	Poikilocytosis	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001877	HP:0001903	Anemia	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040281 - Very frequent		1
HP:0001877	HP:0001903	Anemia	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001877	HP:0001903	Anemia	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.		7
HP:0001877	HP:0001903	Anemia	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0001903	Anemia	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		65
HP:0001877	HP:0001903	Anemia	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0001877	HP:0001903	Anemia	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0001877	HP:0001903	Anemia	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		6
HP:0001877	HP:0001903	Anemia	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		40
HP:0001877	HP:0011902	Abnormal hemoglobin	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0001877	HP:0001903	Anemia	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional		177
HP:0001877	HP:0004447	Poikilocytosis	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0001877	HP:0001903	Anemia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		125
HP:0001877	HP:0001903	Anemia	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0001877	HP:0001903	Anemia	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001877	HP:0001903	Anemia	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		45
HP:0001877	HP:0001903	Anemia	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001877	HP:0011902	Abnormal hemoglobin	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001877	HP:0001903	Anemia	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0001877	HP:0001903	Anemia	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0001877	HP:0001903	Anemia	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0001877	HP:0001903	Anemia	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		9
HP:0001877	HP:0011902	Abnormal hemoglobin	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001877	HP:0001903	Anemia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001877	HP:0020060	Decreased red blood cell count	2	CL E G H
HP:0001877	HP:0005540	Red blood cell keratocytosis	2	CL E G H
HP:0001877	HP:0032563	Dacryocytosis	2	CL E G H
HP:0001877	HP:0005510	Transient erythroblastopenia	2	CL E G H
HP:0001877	HP:0032146	HbC hemoglobin	2	CL E G H
HP:0001877	HP:0005507	Hemoglobin Barts	2	CL E G H
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040283 - Occasional		20
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia			20
HP:0001877	HP:0001923	Reticulocytosis	2	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040283 - Occasional		20
HP:0001877	HP:0004446	Stomatocytosis	2	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040282 - Frequent		20
HP:0001877	HP:0010972	Anemia of inadequate production	2	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040281 - Very frequent		245
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent		245
HP:0001877	HP:0010972	Anemia of inadequate production	2	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0001877	HP:0010972	Anemia of inadequate production	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0001877	HP:0001923	Reticulocytosis	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0001877	HP:0004446	Stomatocytosis	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001877	HP:0004445	Elliptocytosis	2	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent		19
HP:0001877	HP:0010972	Anemia of inadequate production	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0001877	HP:0030273	Reduced red cell adenosine deaminase level	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.		75
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0001877	HP:0012133	Erythroid hypoplasia	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0001896	Reticulocytopenia	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0010972	Anemia of inadequate production	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		22
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0012410	Pure red cell aplasia	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		22
HP:0001877	HP:0001923	Reticulocytosis	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.		129
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0001877	HP:0001981	Schistocytosis	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.		129
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0001877	HP:0010972	Anemia of inadequate production	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	AK1 CL E G H	203	361	OMIM:612631	Adenylate kinase deficiency, hemolytic anemia due to			9
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0001877	HP:0010972	Anemia of inadequate production	2	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.		72
HP:0001877	HP:0010972	Anemia of inadequate production	2	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001877	HP:0010972	Anemia of inadequate production	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001877	HP:0010972	Anemia of inadequate production	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001877	HP:0004445	Elliptocytosis	2	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent		2
HP:0001877	HP:0004445	Elliptocytosis	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001877	HP:0010972	Anemia of inadequate production	2	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2			25
HP:0001877	HP:0010972	Anemia of inadequate production	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0001877	HP:0032566	Oval macrocytosis	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent		25
HP:0001877	HP:0004823	Anisopoikilocytosis	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent		25
HP:0001877	HP:0001923	Reticulocytosis	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent		25
HP:0001877	HP:0004444	Spherocytosis	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent		150
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001877	HP:0004444	Spherocytosis	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0001877	HP:0001923	Reticulocytosis	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0001877	HP:0001923	Reticulocytosis	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.		150
HP:0001877	HP:0004444	Spherocytosis	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.		150
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0001877	HP:0010972	Anemia of inadequate production	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0001877	HP:0001927	Acanthocytosis	2	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.		356
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent		2
HP:0001877	HP:0010972	Anemia of inadequate production	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked			1
HP:0001877	HP:0010972	Anemia of inadequate production	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0010972	Anemia of inadequate production	2	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0011903	HbH hemoglobin	2	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0010972	Anemia of inadequate production	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0001877	HP:0011903	HbH hemoglobin	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent		169
HP:0001877	HP:0010972	Anemia of inadequate production	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001877	HP:0011903	HbH hemoglobin	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001877	HP:0010972	Anemia of inadequate production	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001877	HP:0010972	Anemia of inadequate production	2	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0001923	Reticulocytosis	2	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0045047	HbS hemoglobin	2	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent		75
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0001877	HP:0005505	Refractory anemia	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent		385
HP:0001877	HP:0005505	Refractory anemia	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		385
HP:0001877	HP:0001899	Increased hematocrit	2	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8			2
HP:0001877	HP:0001900	Increased hemoglobin	2	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8			2
HP:0001877	HP:0010972	Anemia of inadequate production	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001877	HP:0010972	Anemia of inadequate production	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001877	HP:0010972	Anemia of inadequate production	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0001877	HP:0010972	Anemia of inadequate production	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5			92
HP:0001877	HP:0004445	Elliptocytosis	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001877	HP:0001981	Schistocytosis	2	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.		10
HP:0001877	HP:0001927	Acanthocytosis	2	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.		10
HP:0001877	HP:0004823	Anisopoikilocytosis	2	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.		10
HP:0001877	HP:0010972	Anemia of inadequate production	2	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89			5
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0001877	HP:0020082	Heinz bodies	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		118
HP:0001877	HP:0001923	Reticulocytosis	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0001877	HP:0001923	Reticulocytosis	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		87
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0001877	HP:0010972	Anemia of inadequate production	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0001877	HP:0010972	Anemia of inadequate production	2	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0001877	HP:0012132	Erythroid hyperplasia	2	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0001877	HP:0010972	Anemia of inadequate production	2	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25			8
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2			39
HP:0001877	HP:0010972	Anemia of inadequate production	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy			3
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0001923	Reticulocytosis	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0001877	HP:0020122	Bite cells	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0001981	Schistocytosis	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0012132	Erythroid hyperplasia	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0001877	HP:0010972	Anemia of inadequate production	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0001877	HP:0001923	Reticulocytosis	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001877	HP:0012132	Erythroid hyperplasia	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001877	HP:0010972	Anemia of inadequate production	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent		25
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4			30
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0001877	HP:0001923	Reticulocytosis	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.		86
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0001877	HP:0001981	Schistocytosis	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.		86
HP:0001877	HP:0001981	Schistocytosis	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0001877	HP:0001923	Reticulocytosis	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001923	Reticulocytosis	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001981	Schistocytosis	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3			57
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0001877	HP:0001923	Reticulocytosis	2	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0001877	HP:0010972	Anemia of inadequate production	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001877	HP:0004823	Anisopoikilocytosis	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0001877	HP:0010972	Anemia of inadequate production	2	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2
HP:0001877	HP:0010972	Anemia of inadequate production	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0001877	HP:0010972	Anemia of inadequate production	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0001877	HP:0010972	Anemia of inadequate production	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001877	HP:0010972	Anemia of inadequate production	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0001877	HP:0010972	Anemia of inadequate production	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0001877	HP:0005505	Refractory anemia	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040281 - Very frequent		115
HP:0001877	HP:0001923	Reticulocytosis	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.		72
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0001877	HP:0004823	Anisopoikilocytosis	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus			10
HP:0001877	HP:0032566	Oval macrocytosis	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent		273
HP:0001877	HP:0001923	Reticulocytosis	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent		273
HP:0001877	HP:0004823	Anisopoikilocytosis	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent		273
HP:0001877	HP:0010972	Anemia of inadequate production	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0001877	HP:0010972	Anemia of inadequate production	2	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0001877	HP:0012119	Methemoglobinemia	2	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040281 - Very frequent		2
HP:0001877	HP:0012119	Methemoglobinemia	2	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.		2
HP:0001877	HP:0012119	Methemoglobinemia	2	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040281 - Very frequent		24
HP:0001877	HP:0012119	Methemoglobinemia	2	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001877	HP:0001927	Acanthocytosis	2	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5	.		54
HP:0001877	HP:0010972	Anemia of inadequate production	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001877	HP:0005505	Refractory anemia	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to			23
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7			17
HP:0001877	HP:0010972	Anemia of inadequate production	2	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0001877	HP:0010972	Anemia of inadequate production	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001877	HP:0010972	Anemia of inadequate production	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0001877	HP:0010972	Anemia of inadequate production	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus			3
HP:0001877	HP:0010972	Anemia of inadequate production	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	DUT CL E G H	1854	3078	OMIM:620044
HP:0001877	HP:0010972	Anemia of inadequate production	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0001877	HP:0010972	Anemia of inadequate production	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0001877	HP:0001899	Increased hematocrit	2	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3	.		128
HP:0001877	HP:0001898	Increased red blood cell mass	2	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3	.		128
HP:0001877	HP:0001900	Increased hemoglobin	2	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3	.		128
HP:0001877	HP:0010972	Anemia of inadequate production	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001877	HP:0010972	Anemia of inadequate production	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001877	HP:0010972	Anemia of inadequate production	2	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0001877	HP:0010972	Anemia of inadequate production	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0001877	HP:0001900	Increased hemoglobin	2	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4			112
HP:0001877	HP:0001899	Increased hematocrit	2	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4			112
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0001877	HP:0004445	Elliptocytosis	2	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0001877	HP:0004446	Stomatocytosis	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		6
HP:0001877	HP:0001923	Reticulocytosis	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		6
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0001877	HP:0004445	Elliptocytosis	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040282 - Frequent		6
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0001877	HP:0001923	Reticulocytosis	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0001877	HP:0004444	Spherocytosis	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0001877	HP:0001923	Reticulocytosis	2	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0001877	HP:0004444	Spherocytosis	2	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0001877	HP:0012410	Pure red cell aplasia	2	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL			1
HP:0001877	HP:0033074	Steroid-responsive anemia	2	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL			1
HP:0001877	HP:0001900	Increased hemoglobin	2	EPO CL E G H	2056	3415	OMIM:617907	Erythrocytosis, familial, 5	.		1
HP:0001877	HP:0001899	Increased hematocrit	2	EPO CL E G H	2056	3415	OMIM:617907	Erythrocytosis, familial, 5	.		1
HP:0001877	HP:0012132	Erythroid hyperplasia	2	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.		12
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001877	HP:0010972	Anemia of inadequate production	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001877	HP:0032550	Howell-Jolly bodies	2	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001877	HP:0001896	Reticulocytopenia	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001877	HP:0001896	Reticulocytopenia	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.		410
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001877	HP:0001896	Reticulocytopenia	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.		147
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001877	HP:0001896	Reticulocytopenia	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001877	HP:0010972	Anemia of inadequate production	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001877	HP:0010972	Anemia of inadequate production	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001877	HP:0010972	Anemia of inadequate production	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001923	Reticulocytosis	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		59
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0001923	Reticulocytosis	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		37
HP:0001877	HP:0010972	Anemia of inadequate production	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus			6
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus			2
HP:0001877	HP:0010972	Anemia of inadequate production	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001877	HP:0010972	Anemia of inadequate production	2	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0001877	HP:0010972	Anemia of inadequate production	2	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0001877	HP:0010972	Anemia of inadequate production	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001877	HP:0010972	Anemia of inadequate production	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001877	HP:0010972	Anemia of inadequate production	2	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0001877	HP:0010972	Anemia of inadequate production	2	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency			65
HP:0001877	HP:0012133	Erythroid hypoplasia	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0001877	HP:0020082	Heinz bodies	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		101
HP:0001877	HP:0001923	Reticulocytosis	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0001877	HP:0010972	Anemia of inadequate production	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0012132	Erythroid hyperplasia	2	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0001923	Reticulocytosis	2	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0004446	Stomatocytosis	2	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0004445	Elliptocytosis	2	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.		29
HP:0001877	HP:0001900	Increased hemoglobin	2	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.		29
HP:0001877	HP:0010972	Anemia of inadequate production	2	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities			29
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		29
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		29
HP:0001877	HP:0010972	Anemia of inadequate production	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0012410	Pure red cell aplasia	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		29
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		29
HP:0001877	HP:0012133	Erythroid hypoplasia	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		29
HP:0001877	HP:0001896	Reticulocytopenia	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		29
HP:0001877	HP:0012132	Erythroid hyperplasia	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001877	HP:0001923	Reticulocytosis	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0001877	HP:0001923	Reticulocytosis	2	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.		29
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0001877	HP:0010972	Anemia of inadequate production	2	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent		29
HP:0001877	HP:0010972	Anemia of inadequate production	2	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.		29
HP:0001877	HP:0001927	Acanthocytosis	2	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.		29
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent		237
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto			2
HP:0001877	HP:0001923	Reticulocytosis	2	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0001877	HP:0010972	Anemia of inadequate production	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0001877	HP:0032231	Hypochromia	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory	.		17
HP:0001877	HP:0012132	Erythroid hyperplasia	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant			23
HP:0001877	HP:0004446	Stomatocytosis	2	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.		23
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0001877	HP:0020082	Heinz bodies	2	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency	.		1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency			1
HP:0001877	HP:0005505	Refractory anemia	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent		9
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY			1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GSS CL E G H	2937	4624	OMIM:231900	Glutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to			39
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0001877	HP:0001923	Reticulocytosis	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		5
HP:0001877	HP:0004446	Stomatocytosis	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		5
HP:0001877	HP:0004445	Elliptocytosis	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040282 - Frequent		5
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA			200
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA			200
HP:0001877	HP:0011903	HbH hemoglobin	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent		200
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001877	HP:0001899	Increased hematocrit	2	HBA1 CL E G H	3039	4823	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7			200
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias			200
HP:0001877	HP:0020082	Heinz bodies	2	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias	.		200
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0001877	HP:0011903	HbH hemoglobin	2	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.		200
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0001877	HP:0012119	Methemoglobinemia	2	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE			200
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA			88
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA			88
HP:0001877	HP:0011903	HbH hemoglobin	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent		88
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001877	HP:0001899	Increased hematocrit	2	HBA2 CL E G H	3040	4824	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7			88
HP:0001877	HP:0020082	Heinz bodies	2	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias	.		88
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias			88
HP:0001877	HP:0011903	HbH hemoglobin	2	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.		88
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA			580
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA			580
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA			580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA			580
HP:0001877	HP:0045048	Increased HbA2 hemoglobin	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent		580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040281 - Very frequent		580
HP:0001877	HP:0012132	Erythroid hyperplasia	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent		580
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040281 - Very frequent		580
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040281 - Very frequent		580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent		580
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent		580
HP:0001877	HP:0004823	Anisopoikilocytosis	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent		580
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent		580
HP:0001877	HP:0011905	Reduced hemoglobin A	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent		580
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent		580
HP:0001877	HP:0045048	Increased HbA2 hemoglobin	2	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	ORPHA:231237	Delta-beta-thalassemia			580
HP:0001877	HP:0011905	Reduced hemoglobin A	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040281 - Very frequent		580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent		580
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent		580
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040281 - Very frequent		580
HP:0001877	HP:0001899	Increased hematocrit	2	HBB CL E G H	3043	4827	OMIM:617980	ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6			580
HP:0001877	HP:0001900	Increased hemoglobin	2	HBB CL E G H	3043	4827	OMIM:617980	ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6			580
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBB CL E G H	3043	4827	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.		580
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias			580
HP:0001877	HP:0020082	Heinz bodies	2	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias	.		580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome			580
HP:0001877	HP:0011905	Reduced hemoglobin A	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0045048	Increased HbA2 hemoglobin	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0045047	HbS hemoglobin	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0030058	Sickled erythrocytes	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent		580
HP:0001877	HP:0011905	Reduced hemoglobin A	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040282 - Frequent		580
HP:0001877	HP:0020059	Increased red blood cell count	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent		580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent		580
HP:0001877	HP:0032231	Hypochromia	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent		580
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0001877	HP:0045047	HbS hemoglobin	2	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0001923	Reticulocytosis	2	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0012119	Methemoglobinemia	2	HBB CL E G H	3043	4827	OMIM:617971	Methemoglobinemia, Beta type	.		580
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040284 - Very rare		580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0001877	HP:0034280	Target cells	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional		580
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0001877	HP:0001923	Reticulocytosis	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent		580
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA			1
HP:0001877	HP:0005560	Imbalanced hemoglobin synthesis	2	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA			1
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBD CL E G H	3045	4829	ORPHA:231237	Delta-beta-thalassemia			52
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBG1 CL E G H	3047	4831	ORPHA:231237	Delta-beta-thalassemia			35
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBG1 CL E G H	3047	4831	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.		35
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		35
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0045047	HbS hemoglobin	2	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0001923	Reticulocytosis	2	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0012119	Methemoglobinemia	2	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	.		50
HP:0001877	HP:0001923	Reticulocytosis	2	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	HP:0040283 - Occasional		50
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBG2 CL E G H	3048	4832	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.		50
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		50
HP:0001877	HP:0045047	HbS hemoglobin	2	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0010972	Anemia of inadequate production	2	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0001923	Reticulocytosis	2	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0012133	Erythroid hypoplasia	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0001877	HP:0001923	Reticulocytosis	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.		11
HP:0001877	HP:0010972	Anemia of inadequate production	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0001877	HP:0010972	Anemia of inadequate production	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001877	HP:0010972	Anemia of inadequate production	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent		161
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent		138
HP:0001877	HP:0010972	Anemia of inadequate production	2	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001877	HP:0010972	Anemia of inadequate production	2	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001877	HP:0031851	Reduced hematocrit	2	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001877	HP:0010972	Anemia of inadequate production	2	HSPA9 CL E G H	3313	5244	OMIM:182170	ANEMIA, SIDEROBLASTIC, 4; SIDBA4			6
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001877	HP:0001896	Reticulocytopenia	2	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent		23
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001877	HP:0010972	Anemia of inadequate production	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent		62
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001877	HP:0010972	Anemia of inadequate production	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0001877	HP:0010972	Anemia of inadequate production	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001877	HP:0010972	Anemia of inadequate production	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0001877	HP:0001899	Increased hematocrit	2	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.		57
HP:0001877	HP:0001898	Increased red blood cell mass	2	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.		57
HP:0001877	HP:0001900	Increased hemoglobin	2	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.		57
HP:0001877	HP:0001898	Increased red blood cell mass	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.		57
HP:0001877	HP:0001899	Increased hematocrit	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.		57
HP:0001877	HP:0001900	Increased hemoglobin	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.		57
HP:0001877	HP:0010972	Anemia of inadequate production	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001877	HP:0010972	Anemia of inadequate production	2	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0001877	HP:0004445	Elliptocytosis	2	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent		5
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040281 - Very frequent		127
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.		127
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent		127
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0001877	HP:0001981	Schistocytosis	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		3
HP:0001877	HP:0020063	Increased hemoglobin concentration	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0001877	HP:0001923	Reticulocytosis	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		3
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0001877	HP:0010972	Anemia of inadequate production	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0001877	HP:0004823	Anisopoikilocytosis	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0001877	HP:0001923	Reticulocytosis	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0001877	HP:0020122	Bite cells	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0001877	HP:0001927	Acanthocytosis	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0001877	HP:0010972	Anemia of inadequate production	2	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001877	HP:0010972	Anemia of inadequate production	2	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.		1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent		1
HP:0001877	HP:0010972	Anemia of inadequate production	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0001877	HP:0031851	Reduced hematocrit	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0020062	Decreased hemoglobin concentration	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0001923	Reticulocytosis	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0001877	HP:0001981	Schistocytosis	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0012132	Erythroid hyperplasia	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0010972	Anemia of inadequate production	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0001877	HP:0010971	Absence of Lutheran antigen on erythrocytes	2	KLF1 CL E G H	10661	6345	OMIM:111150	BLOOD GROUP--LUTHERAN INHIBITOR; INLU			42
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		42
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0045047	HbS hemoglobin	2	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0010972	Anemia of inadequate production	2	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0001923	Reticulocytosis	2	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent		78
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0001877	HP:0010972	Anemia of inadequate production	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001877	HP:0010972	Anemia of inadequate production	2	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0001877	HP:0010972	Anemia of inadequate production	2	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency			26
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency			26
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0001877	HP:0010972	Anemia of inadequate production	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0001877	HP:0010972	Anemia of inadequate production	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001877	HP:0010972	Anemia of inadequate production	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001877	HP:0010972	Anemia of inadequate production	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001877	HP:0012132	Erythroid hyperplasia	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001877	HP:0010972	Anemia of inadequate production	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001877	HP:0020062	Decreased hemoglobin concentration	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001877	HP:0020062	Decreased hemoglobin concentration	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0001877	HP:0010972	Anemia of inadequate production	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001877	HP:0010972	Anemia of inadequate production	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0001877	HP:0010972	Anemia of inadequate production	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0001877	HP:0010972	Anemia of inadequate production	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0001877	HP:0004823	Anisopoikilocytosis	2	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis	.		1
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0010972	Anemia of inadequate production	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.		5
HP:0001877	HP:0010972	Anemia of inadequate production	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0001877	HP:0010972	Anemia of inadequate production	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0001877	HP:0010972	Anemia of inadequate production	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0001877	HP:0001927	Acanthocytosis	2	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.		81
HP:0001877	HP:0001927	Acanthocytosis	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040281 - Very frequent		81
HP:0001877	HP:0001923	Reticulocytosis	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001877	HP:0010972	Anemia of inadequate production	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001877	HP:0010972	Anemia of inadequate production	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0001877	HP:0001896	Reticulocytopenia	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0001877	HP:0010972	Anemia of inadequate production	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040281 - Very frequent		34
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent		32
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0001877	HP:0004445	Elliptocytosis	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001877	HP:0001923	Reticulocytosis	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.		2
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	NT5C3A CL E G H	51251	17820	OMIM:266120	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to			10
HP:0001877	HP:0010972	Anemia of inadequate production	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0001877	HP:0010972	Anemia of inadequate production	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001877	HP:0010972	Anemia of inadequate production	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001877	HP:0001927	Acanthocytosis	2	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.		55
HP:0001877	HP:0001927	Acanthocytosis	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent		55
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent		30
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0001877	HP:0001923	Reticulocytosis	2	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.		64
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0020062	Decreased hemoglobin concentration	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0001877	HP:0001923	Reticulocytosis	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0001877	HP:0001923	Reticulocytosis	2	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.		21
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0012132	Erythroid hyperplasia	2	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0001877	HP:0010972	Anemia of inadequate production	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001877	HP:0010972	Anemia of inadequate production	2	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001877	HP:0001981	Schistocytosis	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		36
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0001877	HP:0001923	Reticulocytosis	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		36
HP:0001877	HP:0010972	Anemia of inadequate production	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0001877	HP:0020063	Increased hemoglobin concentration	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	.		36
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0001877	HP:0001923	Reticulocytosis	2	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	.		36
HP:0001877	HP:0001923	Reticulocytosis	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0001877	HP:0012132	Erythroid hyperplasia	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional		46
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2			12
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0001877	HP:0001923	Reticulocytosis	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040281 - Very frequent		51
HP:0001877	HP:0025109	Reduced red cell pyruvate kinase level	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040281 - Very frequent		51
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0001877	HP:0012132	Erythroid hyperplasia	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0020062	Decreased hemoglobin concentration	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0025109	Reduced red cell pyruvate kinase level	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0001923	Reticulocytosis	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.		51
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0010972	Anemia of inadequate production	2	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP			2
HP:0001877	HP:0012410	Pure red cell aplasia	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0010972	Anemia of inadequate production	2	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001877	HP:0010972	Anemia of inadequate production	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001877	HP:0001896	Reticulocytopenia	2	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent		58
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0001877	HP:0001923	Reticulocytosis	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		10
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0001877	HP:0010972	Anemia of inadequate production	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001877	HP:0010972	Anemia of inadequate production	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001877	HP:0010972	Anemia of inadequate production	2	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0001877	HP:0005505	Refractory anemia	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		948
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus			3
HP:0001877	HP:0012132	Erythroid hyperplasia	2	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0001877	HP:0010972	Anemia of inadequate production	2	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001877	HP:0020081	Pappenheimer bodies	2	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0001877	HP:0010972	Anemia of inadequate production	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001877	HP:0010972	Anemia of inadequate production	2	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0001877	HP:0010972	Anemia of inadequate production	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001877	HP:0010972	Anemia of inadequate production	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency			127
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001877	HP:0001923	Reticulocytosis	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001877	HP:0010972	Anemia of inadequate production	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0001877	HP:0004446	Stomatocytosis	2	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type	.		13
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type			13
HP:0001877	HP:0025547	Decreased mean corpuscular hemoglobin concentration	2	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent		13
HP:0001877	HP:0001923	Reticulocytosis	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.		13
HP:0001877	HP:0004446	Stomatocytosis	2	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent		13
HP:0001877	HP:0001923	Reticulocytosis	2	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent		13
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0004446	Stomatocytosis	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.		13
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0001877	HP:0004444	Spherocytosis	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		13
HP:0001877	HP:0032231	Hypochromia	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		13
HP:0001877	HP:0010972	Anemia of inadequate production	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001877	HP:0004446	Stomatocytosis	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		13
HP:0001877	HP:0001923	Reticulocytosis	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent		13
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001877	HP:0004444	Spherocytosis	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		8
HP:0001877	HP:0001923	Reticulocytosis	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent		8
HP:0001877	HP:0010972	Anemia of inadequate production	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001877	HP:0004446	Stomatocytosis	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		8
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001877	HP:0032231	Hypochromia	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		8
HP:0001877	HP:0004446	Stomatocytosis	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		16
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001877	HP:0004444	Spherocytosis	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		16
HP:0001877	HP:0001923	Reticulocytosis	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent		16
HP:0001877	HP:0010972	Anemia of inadequate production	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001877	HP:0032231	Hypochromia	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent		16
HP:0001877	HP:0010972	Anemia of inadequate production	2	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001877	HP:0010972	Anemia of inadequate production	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		22
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		22
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		3
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		3
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.		3
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.		3
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001877	HP:0033074	Steroid-responsive anemia	2	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		3
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		3
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.		3
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0001877	HP:0033074	Steroid-responsive anemia	2	RPL35 CL E G H	11224	10344	OMIM:618312	DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL35 CL E G H	11224	10344	OMIM:618312	DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		11
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		11
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		11
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		11
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		11
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		11
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5	.		11
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		40
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		40
HP:0001877	HP:0001896	Reticulocytopenia	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		40
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		40
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		40
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		40
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		26
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		26
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		26
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		26
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		26
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		26
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		5
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		5
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		5
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		5
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		5
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		5
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		42
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		42
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		42
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		42
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		42
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		42
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		22
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		22
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		20
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		20
HP:0001877	HP:0033074	Steroid-responsive anemia	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	.		20
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		3
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		3
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13	.		3
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13			3
HP:0001877	HP:0001896	Reticulocytopenia	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0012133	Erythroid hypoplasia	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		20
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0012410	Pure red cell aplasia	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		20
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0001877	HP:0010972	Anemia of inadequate production	2	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0001877	HP:0032550	Howell-Jolly bodies	2	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital			9
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2			8
HP:0001877	HP:0010972	Anemia of inadequate production	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0001877	HP:0010972	Anemia of inadequate production	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7	.		4
HP:0001877	HP:0001927	Acanthocytosis	2	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040284 - Very rare		8
HP:0001877	HP:0001896	Reticulocytopenia	2	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent		26
HP:0001877	HP:0010972	Anemia of inadequate production	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0001877	HP:0004823	Anisopoikilocytosis	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0001877	HP:0001927	Acanthocytosis	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0001877	HP:0001981	Schistocytosis	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0001877	HP:0004823	Anisopoikilocytosis	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0001877	HP:0010972	Anemia of inadequate production	2	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.		60
HP:0001877	HP:0001923	Reticulocytosis	2	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.		60
HP:0001877	HP:0010972	Anemia of inadequate production	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040281 - Very frequent		19
HP:0001877	HP:0012132	Erythroid hyperplasia	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent		19
HP:0001877	HP:0010972	Anemia of inadequate production	2	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0001877	HP:0001900	Increased hemoglobin	2	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.		4
HP:0001877	HP:0001899	Increased hematocrit	2	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.		4
HP:0001877	HP:0001898	Increased red blood cell mass	2	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.		4
HP:0001877	HP:0010972	Anemia of inadequate production	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001877	HP:0032231	Hypochromia	2	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1	.		60
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1	.		60
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0001981	Schistocytosis	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.		41
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory			41
HP:0001877	HP:0032231	Hypochromia	2	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.		41
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0001877	HP:0001923	Reticulocytosis	2	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.		255
HP:0001877	HP:0004446	Stomatocytosis	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0001877	HP:0001923	Reticulocytosis	2	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS	.		109
HP:0001877	HP:0004446	Stomatocytosis	2	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS	.		109
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS			109
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0001877	HP:0001923	Reticulocytosis	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		109
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0001877	HP:0020063	Increased hemoglobin concentration	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0001877	HP:0001981	Schistocytosis	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		109
HP:0001877	HP:0001923	Reticulocytosis	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001877	HP:0004444	Spherocytosis	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0001877	HP:0004445	Elliptocytosis	2	SLC4A1 CL E G H	6521	11027	OMIM:166900	Ovalocytosis, hereditary hemolytic			109
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC4A1 CL E G H	6521	11027	OMIM:166900	Ovalocytosis, hereditary hemolytic			109
HP:0001877	HP:0001923	Reticulocytosis	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	HP:0040283 - Occasional		109
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	HP:0040283 - Occasional		109
HP:0001877	HP:0004444	Spherocytosis	2	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.		109
HP:0001877	HP:0001923	Reticulocytosis	2	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.		109
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0001877	HP:0010972	Anemia of inadequate production	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001877	HP:0010972	Anemia of inadequate production	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0001877	HP:0010972	Anemia of inadequate production	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001877	HP:0001923	Reticulocytosis	2	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2			228
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2			228
HP:0001877	HP:0004445	Elliptocytosis	2	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2			228
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0001877	HP:0004446	Stomatocytosis	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		228
HP:0001877	HP:0004445	Elliptocytosis	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040282 - Frequent		228
HP:0001877	HP:0001923	Reticulocytosis	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		228
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0001877	HP:0004444	Spherocytosis	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0001877	HP:0001923	Reticulocytosis	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001877	HP:0004445	Elliptocytosis	2	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary	.		228
HP:0001877	HP:0004444	Spherocytosis	2	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary			228
HP:0001877	HP:0004839	Pyropoikilocytosis	2	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary	.		228
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary			228
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTA1 CL E G H	6708	11272	OMIM:270970	Spherocytosis, autosomal recessive			228
HP:0001877	HP:0004444	Spherocytosis	2	SPTA1 CL E G H	6708	11272	OMIM:270970	Spherocytosis, autosomal recessive	.		228
HP:0001877	HP:0004445	Elliptocytosis	2	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0004839	Pyropoikilocytosis	2	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0004446	Stomatocytosis	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		156
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0001877	HP:0001923	Reticulocytosis	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		156
HP:0001877	HP:0004445	Elliptocytosis	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040282 - Frequent		156
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001877	HP:0004444	Spherocytosis	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0001877	HP:0001923	Reticulocytosis	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0001877	HP:0001923	Reticulocytosis	2	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0001927	Acanthocytosis	2	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0004444	Spherocytosis	2	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0010972	Anemia of inadequate production	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0001877	HP:0010972	Anemia of inadequate production	2	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001877	HP:0010972	Anemia of inadequate production	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001877	HP:0010972	Anemia of inadequate production	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0001877	HP:0032231	Hypochromia	2	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.		1
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.		1
HP:0001877	HP:0004823	Anisopoikilocytosis	2	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent		1
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent		1
HP:0001877	HP:0001896	Reticulocytopenia	2	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040281 - Very frequent		1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0001877	HP:0032550	Howell-Jolly bodies	2	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0001877	HP:0010972	Anemia of inadequate production	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0001877	HP:0010972	Anemia of inadequate production	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001877	HP:0025548	Increased mean corpuscular hemoglobin concentration	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001877	HP:0005505	Refractory anemia	2	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	.		16
HP:0001877	HP:0010972	Anemia of inadequate production	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0001877	HP:0001896	Reticulocytopenia	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.		57
HP:0001877	HP:0010972	Anemia of inadequate production	2	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus			78
HP:0001877	HP:0001896	Reticulocytopenia	2	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent		48
HP:0001877	HP:0001896	Reticulocytopenia	2	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent		238
HP:0001877	HP:0010972	Anemia of inadequate production	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040281 - Very frequent		3
HP:0001877	HP:0012132	Erythroid hyperplasia	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0012133	Erythroid hypoplasia	2	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0010972	Anemia of inadequate production	2	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040281 - Very frequent		3
HP:0001877	HP:0010972	Anemia of inadequate production	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0001877	HP:0010972	Anemia of inadequate production	2	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA			45
HP:0001877	HP:0010972	Anemia of inadequate production	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6			60
HP:0001877	HP:0010972	Anemia of inadequate production	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001877	HP:0010972	Anemia of inadequate production	2	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA			65
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001877	HP:0001927	Acanthocytosis	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001877	HP:0010972	Anemia of inadequate production	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001877	HP:0012410	Pure red cell aplasia	2	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.		911
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001877	HP:0010972	Anemia of inadequate production	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001877	HP:0010972	Anemia of inadequate production	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus			56
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001877	HP:0025066	Decreased mean corpuscular volume	2	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0001877	HP:0004445	Elliptocytosis	2	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis	.		28
HP:0001877	HP:0001981	Schistocytosis	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0010972	Anemia of inadequate production	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0012133	Erythroid hypoplasia	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0010972	Anemia of inadequate production	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0030270	Elevated red cell adenosine deaminase level	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0012410	Pure red cell aplasia	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0005518	Increased mean corpuscular volume	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0001896	Reticulocytopenia	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0010972	Anemia of inadequate production	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001877	HP:0010972	Anemia of inadequate production	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0001877	HP:0010972	Anemia of inadequate production	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001877	HP:0032231	Hypochromia	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.		135
HP:0001877	HP:0010972	Anemia of inadequate production	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001877	HP:0010972	Anemia of inadequate production	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001877	HP:0012132	Erythroid hyperplasia	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0001877	HP:0001923	Reticulocytosis	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001877	HP:0012132	Erythroid hyperplasia	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0001877	HP:0001898	Increased red blood cell mass	2	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.		490
HP:0001877	HP:0001899	Increased hematocrit	2	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.		490
HP:0001877	HP:0001900	Increased hemoglobin	2	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.		490
HP:0001877	HP:0001927	Acanthocytosis	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0001877	HP:0001927	Acanthocytosis	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent		130
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0010972	Anemia of inadequate production	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0010972	Anemia of inadequate production	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0010972	Anemia of inadequate production	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0001877	HP:0010972	Anemia of inadequate production	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0001877	HP:0001927	Acanthocytosis	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	HP:0040280 - Obligate		8
HP:0001877	HP:0010972	Anemia of inadequate production	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001877	HP:0010972	Anemia of inadequate production	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001877	HP:0040217	Elevated hemoglobin A1c	2	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001877	HP:0011895	Anemia due to reduced life span of red cells	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0001877	HP:0011904	Persistence of hemoglobin F	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001877	HP:0010972	Anemia of inadequate production	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001877	HP:0004822	Atypical elliptocytosis	3	CL E G H
HP:0001877	HP:0001878	Hemolytic anemia	3	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia			20
HP:0001877	HP:0001935	Microcytic anemia	3	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0001877	HP:0001931	Hypochromic anemia	3	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0001877	HP:0001924	Sideroblastic anemia	3	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.		35
HP:0001877	HP:0001931	Hypochromic anemia	3	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0001877	HP:0001895	Normochromic anemia	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001877	HP:0001878	Hemolytic anemia	3	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0001877	HP:0001878	Hemolytic anemia	3	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001877	HP:0001935	Microcytic anemia	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		178
HP:0001877	HP:0001878	Hemolytic anemia	3	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0001877	HP:0001972	Macrocytic anemia	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001895	Normochromic anemia	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001877	HP:0001878	Hemolytic anemia	3	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0001877	HP:0001878	Hemolytic anemia	3	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	HP:0040283 - Occasional		116
HP:0001877	HP:0001935	Microcytic anemia	3	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0001877	HP:0001878	Hemolytic anemia	3	AK1 CL E G H	203	361	OMIM:612631	Adenylate kinase deficiency, hemolytic anemia due to	.		9
HP:0001877	HP:0001878	Hemolytic anemia	3	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.		62
HP:0001877	HP:0001924	Sideroblastic anemia	3	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.		72
HP:0001877	HP:0001935	Microcytic anemia	3	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked			72
HP:0001877	HP:0001972	Macrocytic anemia	3	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.		72
HP:0001877	HP:0001931	Hypochromic anemia	3	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked			72
HP:0001877	HP:0001931	Hypochromic anemia	3	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0001877	HP:0001878	Hemolytic anemia	3	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040282 - Frequent		50
HP:0001877	HP:0001878	Hemolytic anemia	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001877	HP:0001897	Normocytic anemia	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0001877	HP:0001895	Normochromic anemia	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0001877	HP:0001931	Hypochromic anemia	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001877	HP:0001972	Macrocytic anemia	3	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2			25
HP:0001877	HP:0001972	Macrocytic anemia	3	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent		25
HP:0001877	HP:0001878	Hemolytic anemia	3	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent		150
HP:0001877	HP:0001878	Hemolytic anemia	3	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001877	HP:0001878	Hemolytic anemia	3	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.		150
HP:0001877	HP:0001931	Hypochromic anemia	3	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0001877	HP:0001897	Normocytic anemia	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		145
HP:0001877	HP:0001895	Normochromic anemia	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		145
HP:0001877	HP:0001878	Hemolytic anemia	3	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked	.		1
HP:0001877	HP:0001897	Normocytic anemia	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001877	HP:0001878	Hemolytic anemia	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0001877	HP:0001935	Microcytic anemia	3	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0001931	Hypochromic anemia	3	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0011907	Reduced alpha/beta synthesis ratio	3	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0001935	Microcytic anemia	3	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent		169
HP:0001877	HP:0011907	Reduced alpha/beta synthesis ratio	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0001877	HP:0001935	Microcytic anemia	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001877	HP:0001931	Hypochromic anemia	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001877	HP:0001931	Hypochromic anemia	3	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001877	HP:0001935	Microcytic anemia	3	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0008346	Increased red cell sickling tendency	3	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0001931	Hypochromic anemia	3	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0001924	Sideroblastic anemia	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001877	HP:0001924	Sideroblastic anemia	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001877	HP:0001924	Sideroblastic anemia	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001877	HP:0001878	Hemolytic anemia	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare		1
HP:0001877	HP:0001935	Microcytic anemia	3	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001877	HP:0001931	Hypochromic anemia	3	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001877	HP:0001878	Hemolytic anemia	3	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5			92
HP:0001877	HP:0001935	Microcytic anemia	3	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89			5
HP:0001877	HP:0001931	Hypochromic anemia	3	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89			5
HP:0001877	HP:0001878	Hemolytic anemia	3	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0001877	HP:0001878	Hemolytic anemia	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0001877	HP:0001931	Hypochromic anemia	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0001877	HP:0001878	Hemolytic anemia	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0001877	HP:0001935	Microcytic anemia	3	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional		5
HP:0001877	HP:0001972	Macrocytic anemia	3	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0001877	HP:0200143	Megaloblastic erythroid hyperplasia	3	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0001877	HP:0001878	Hemolytic anemia	3	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		38
HP:0001877	HP:0001878	Hemolytic anemia	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25			8
HP:0001877	HP:0001878	Hemolytic anemia	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0001877	HP:0001878	Hemolytic anemia	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.		33
HP:0001877	HP:0001878	Hemolytic anemia	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040281 - Very frequent		39
HP:0001877	HP:0001878	Hemolytic anemia	3	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2			39
HP:0001877	HP:0001931	Hypochromic anemia	3	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0001877	HP:0001878	Hemolytic anemia	3	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.		3
HP:0001877	HP:0001878	Hemolytic anemia	3	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0001877	HP:0001972	Macrocytic anemia	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0001878	Hemolytic anemia	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001877	HP:0001878	Hemolytic anemia	3	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4			30
HP:0001877	HP:0001878	Hemolytic anemia	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040281 - Very frequent		86
HP:0001877	HP:0001878	Hemolytic anemia	3	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0001877	HP:0001878	Hemolytic anemia	3	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001878	Hemolytic anemia	3	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001877	HP:0001878	Hemolytic anemia	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040281 - Very frequent		57
HP:0001877	HP:0001878	Hemolytic anemia	3	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3			57
HP:0001877	HP:0001878	Hemolytic anemia	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0001877	HP:0001931	Hypochromic anemia	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001877	HP:0001931	Hypochromic anemia	3	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2
HP:0001877	HP:0001931	Hypochromic anemia	3	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001877	HP:0001878	Hemolytic anemia	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0001877	HP:0001931	Hypochromic anemia	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0001877	HP:0001972	Macrocytic anemia	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001877	HP:0001935	Microcytic anemia	3	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0001877	HP:0001931	Hypochromic anemia	3	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0001877	HP:0001878	Hemolytic anemia	3	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.		72
HP:0001877	HP:0001878	Hemolytic anemia	3	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		10
HP:0001877	HP:0001878	Hemolytic anemia	3	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0001877	HP:0001878	Hemolytic anemia	3	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.		10
HP:0001877	HP:0001972	Macrocytic anemia	3	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent		273
HP:0001877	HP:0001972	Macrocytic anemia	3	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0001877	HP:0001878	Hemolytic anemia	3	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001877	HP:0001931	Hypochromic anemia	3	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001877	HP:0001878	Hemolytic anemia	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001877	HP:0001878	Hemolytic anemia	3	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	HP:0040283 - Occasional		17
HP:0001877	HP:0001972	Macrocytic anemia	3	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0001877	HP:0001935	Microcytic anemia	3	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001877	HP:0001935	Microcytic anemia	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001877	HP:0001931	Hypochromic anemia	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001877	HP:0001897	Normocytic anemia	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0001877	HP:0001972	Macrocytic anemia	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0001877	HP:0001878	Hemolytic anemia	3	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.		3
HP:0001877	HP:0001972	Macrocytic anemia	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0001877	HP:0001897	Normocytic anemia	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0001877	HP:0001972	Macrocytic anemia	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0001877	HP:0001897	Normocytic anemia	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0001877	HP:0001931	Hypochromic anemia	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001877	HP:0001931	Hypochromic anemia	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001877	HP:0001931	Hypochromic anemia	3	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.		3
HP:0001877	HP:0001935	Microcytic anemia	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		186
HP:0001877	HP:0001878	Hemolytic anemia	3	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0001877	HP:0001878	Hemolytic anemia	3	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		6
HP:0001877	HP:0001878	Hemolytic anemia	3	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001877	HP:0001878	Hemolytic anemia	3	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0001877	HP:0001924	Sideroblastic anemia	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001877	HP:0001924	Sideroblastic anemia	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001877	HP:0001935	Microcytic anemia	3	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001877	HP:0001878	Hemolytic anemia	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001931	Hypochromic anemia	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001878	Hemolytic anemia	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0001877	HP:0001878	Hemolytic anemia	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0001931	Hypochromic anemia	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0001878	Hemolytic anemia	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0001877	HP:0001878	Hemolytic anemia	3	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.		6
HP:0001877	HP:0001878	Hemolytic anemia	3	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.		2
HP:0001877	HP:0001935	Microcytic anemia	3	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0001877	HP:0001935	Microcytic anemia	3	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040283 - Occasional		145
HP:0001877	HP:0001878	Hemolytic anemia	3	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.		145
HP:0001877	HP:0001931	Hypochromic anemia	3	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0001877	HP:0001931	Hypochromic anemia	3	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001877	HP:0001878	Hemolytic anemia	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001877	HP:0001931	Hypochromic anemia	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001877	HP:0001878	Hemolytic anemia	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001877	HP:0001972	Macrocytic anemia	3	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0001877	HP:0001972	Macrocytic anemia	3	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency			65
HP:0001877	HP:0001878	Hemolytic anemia	3	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0001877	HP:0001931	Hypochromic anemia	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001877	HP:0001878	Hemolytic anemia	3	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0001877	HP:0001878	Hemolytic anemia	3	GATA1 CL E G H	2623	4170	OMIM:301083				29
HP:0001877	HP:0001972	Macrocytic anemia	3	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.		29
HP:0001877	HP:0001895	Normochromic anemia	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		29
HP:0001877	HP:0001972	Macrocytic anemia	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001877	HP:0001878	Hemolytic anemia	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0001877	HP:0001878	Hemolytic anemia	3	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	HP:0040282 - Frequent		29
HP:0001877	HP:0001931	Hypochromic anemia	3	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent		29
HP:0001877	HP:0001878	Hemolytic anemia	3	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto	.		2
HP:0001877	HP:0001878	Hemolytic anemia	3	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040280 - Obligate		2
HP:0001877	HP:0001935	Microcytic anemia	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		8
HP:0001877	HP:0001878	Hemolytic anemia	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001877	HP:0001878	Hemolytic anemia	3	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.		23
HP:0001877	HP:0001878	Hemolytic anemia	3	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0001877	HP:0001878	Hemolytic anemia	3	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency			1
HP:0001877	HP:0001878	Hemolytic anemia	3	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY			1
HP:0001877	HP:0001878	Hemolytic anemia	3	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.		39
HP:0001877	HP:0001878	Hemolytic anemia	3	GSS CL E G H	2937	4624	OMIM:231900	Glutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to	.		39
HP:0001877	HP:0001878	Hemolytic anemia	3	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		5
HP:0001877	HP:0011907	Reduced alpha/beta synthesis ratio	3	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA	.		200
HP:0001877	HP:0001935	Microcytic anemia	3	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA			200
HP:0001877	HP:0001931	Hypochromic anemia	3	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA			200
HP:0001877	HP:0001935	Microcytic anemia	3	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent		200
HP:0001877	HP:0001878	Hemolytic anemia	3	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias			200
HP:0001877	HP:0001878	Hemolytic anemia	3	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.		200
HP:0001877	HP:0011907	Reduced alpha/beta synthesis ratio	3	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.		200
HP:0001877	HP:0001931	Hypochromic anemia	3	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA			88
HP:0001877	HP:0011907	Reduced alpha/beta synthesis ratio	3	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA	.		88
HP:0001877	HP:0001935	Microcytic anemia	3	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA			88
HP:0001877	HP:0001935	Microcytic anemia	3	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent		88
HP:0001877	HP:0001878	Hemolytic anemia	3	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias			88
HP:0001877	HP:0011907	Reduced alpha/beta synthesis ratio	3	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.		88
HP:0001877	HP:0001878	Hemolytic anemia	3	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.		88
HP:0001877	HP:0011907	Reduced alpha/beta synthesis ratio	3	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA	.		580
HP:0001877	HP:0001931	Hypochromic anemia	3	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA			580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA			580
HP:0001877	HP:0011906	Reduced beta/alpha synthesis ratio	3	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA	.		580
HP:0001877	HP:0001931	Hypochromic anemia	3	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA			580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA			580
HP:0001877	HP:0001931	Hypochromic anemia	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001877	HP:0001931	Hypochromic anemia	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001877	HP:0001878	Hemolytic anemia	3	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias			580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0001877	HP:0011907	Reduced alpha/beta synthesis ratio	3	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0011906	Reduced beta/alpha synthesis ratio	3	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0001877	HP:0001931	Hypochromic anemia	3	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001877	HP:0001878	Hemolytic anemia	3	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001877	HP:0008346	Increased red cell sickling tendency	3	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0001931	Hypochromic anemia	3	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0001878	Hemolytic anemia	3	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0001877	HP:0001931	Hypochromic anemia	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040284 - Very rare		580
HP:0001877	HP:0008346	Increased red cell sickling tendency	3	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0001877	HP:0001935	Microcytic anemia	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040284 - Very rare		580
HP:0001877	HP:0001878	Hemolytic anemia	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040281 - Very frequent		580
HP:0001877	HP:0001931	Hypochromic anemia	3	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA			1
HP:0001877	HP:0001935	Microcytic anemia	3	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA			1
HP:0001877	HP:0011906	Reduced beta/alpha synthesis ratio	3	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA	.		1
HP:0001877	HP:0001935	Microcytic anemia	3	HBD CL E G H	3045	4829	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		52
HP:0001877	HP:0001935	Microcytic anemia	3	HBG1 CL E G H	3047	4831	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent		35
HP:0001877	HP:0001935	Microcytic anemia	3	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0008346	Increased red cell sickling tendency	3	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0001931	Hypochromic anemia	3	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0001931	Hypochromic anemia	3	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0008346	Increased red cell sickling tendency	3	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0001935	Microcytic anemia	3	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0001878	Hemolytic anemia	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040281 - Very frequent
HP:0001877	HP:0001895	Normochromic anemia	3	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.		11
HP:0001877	HP:0001878	Hemolytic anemia	3	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0001877	HP:0001897	Normocytic anemia	3	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.		11
HP:0001877	HP:0001931	Hypochromic anemia	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001877	HP:0001972	Macrocytic anemia	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001877	HP:0001972	Macrocytic anemia	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001877	HP:0001931	Hypochromic anemia	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001877	HP:0001878	Hemolytic anemia	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare		2
HP:0001877	HP:0001878	Hemolytic anemia	3	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0001877	HP:0001972	Macrocytic anemia	3	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001877	HP:0001935	Microcytic anemia	3	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001877	HP:0001931	Hypochromic anemia	3	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001877	HP:0001924	Sideroblastic anemia	3	HSPA9 CL E G H	3313	5244	OMIM:182170	ANEMIA, SIDEROBLASTIC, 4; SIDBA4			6
HP:0001877	HP:0001878	Hemolytic anemia	3	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		32
HP:0001877	HP:0001878	Hemolytic anemia	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001877	HP:0001878	Hemolytic anemia	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001877	HP:0001878	Hemolytic anemia	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001877	HP:0001935	Microcytic anemia	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001877	HP:0001878	Hemolytic anemia	3	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001877	HP:0001931	Hypochromic anemia	3	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0001877	HP:0001935	Microcytic anemia	3	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0001877	HP:0001878	Hemolytic anemia	3	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		4
HP:0001877	HP:0001935	Microcytic anemia	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0001877	HP:0001931	Hypochromic anemia	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0001877	HP:0001924	Sideroblastic anemia	3	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.		19
HP:0001877	HP:0001878	Hemolytic anemia	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0001877	HP:0001931	Hypochromic anemia	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001877	HP:0001935	Microcytic anemia	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001877	HP:0001931	Hypochromic anemia	3	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0001877	HP:0001878	Hemolytic anemia	3	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent		3
HP:0001877	HP:0001972	Macrocytic anemia	3	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		3
HP:0001877	HP:0001878	Hemolytic anemia	3	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	HP:0003577 - Congenital onset	3
HP:0001877	HP:0001931	Hypochromic anemia	3	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0001877	HP:0001878	Hemolytic anemia	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0001877	HP:0001972	Macrocytic anemia	3	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.		1
HP:0001877	HP:0001908	Hypoplastic anemia	3	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III			1
HP:0001877	HP:0001897	Normocytic anemia	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		327
HP:0001877	HP:0001895	Normochromic anemia	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		327
HP:0001877	HP:0001878	Hemolytic anemia	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001877	HP:0001931	Hypochromic anemia	3	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0001935	Microcytic anemia	3	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0008346	Increased red cell sickling tendency	3	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0001878	Hemolytic anemia	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0001877	HP:0001878	Hemolytic anemia	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		196
HP:0001877	HP:0001972	Macrocytic anemia	3	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0001877	HP:0001924	Sideroblastic anemia	3	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0001877	HP:0001878	Hemolytic anemia	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0001877	HP:0001895	Normochromic anemia	3	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.		26
HP:0001877	HP:0001878	Hemolytic anemia	3	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.		26
HP:0001877	HP:0001878	Hemolytic anemia	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001877	HP:0001972	Macrocytic anemia	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0001877	HP:0001972	Macrocytic anemia	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001877	HP:0001935	Microcytic anemia	3	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001877	HP:0001908	Hypoplastic anemia	3	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001877	HP:0001931	Hypochromic anemia	3	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001877	HP:0001935	Microcytic anemia	3	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001877	HP:0001878	Hemolytic anemia	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001877	HP:0001924	Sideroblastic anemia	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001877	HP:0001972	Macrocytic anemia	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001877	HP:0001972	Macrocytic anemia	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0001877	HP:0001972	Macrocytic anemia	3	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0001877	HP:0001931	Hypochromic anemia	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0001877	HP:0001878	Hemolytic anemia	3	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0001877	HP:0001972	Macrocytic anemia	3	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.		5
HP:0001877	HP:0001972	Macrocytic anemia	3	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0001877	HP:0001972	Macrocytic anemia	3	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0001877	HP:0001972	Macrocytic anemia	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0001877	HP:0001908	Hypoplastic anemia	3	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001877	HP:0001897	Normocytic anemia	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040282 - Frequent		9
HP:0001877	HP:0001931	Hypochromic anemia	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001877	HP:0001878	Hemolytic anemia	3	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0001877	HP:0001878	Hemolytic anemia	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0001877	HP:0001878	Hemolytic anemia	3	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		7
HP:0001877	HP:0001878	Hemolytic anemia	3	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0001877	HP:0001878	Hemolytic anemia	3	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		11
HP:0001877	HP:0001878	Hemolytic anemia	3	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001877	HP:0001878	Hemolytic anemia	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001877	HP:0001878	Hemolytic anemia	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		102
HP:0001877	HP:0001878	Hemolytic anemia	3	NT5C3A CL E G H	51251	17820	OMIM:266120	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to	.		10
HP:0001877	HP:0001972	Macrocytic anemia	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0001877	HP:0001931	Hypochromic anemia	3	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001877	HP:0001935	Microcytic anemia	3	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001877	HP:0001924	Sideroblastic anemia	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001877	HP:0001878	Hemolytic anemia	3	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.		64
HP:0001877	HP:0001878	Hemolytic anemia	3	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0001877	HP:0001878	Hemolytic anemia	3	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0001877	HP:0001878	Hemolytic anemia	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001877	HP:0001878	Hemolytic anemia	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0001877	HP:0001972	Macrocytic anemia	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001877	HP:0001972	Macrocytic anemia	3	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0001877	HP:0001878	Hemolytic anemia	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001877	HP:0001972	Macrocytic anemia	3	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		36
HP:0001877	HP:0001878	Hemolytic anemia	3	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent		36
HP:0001877	HP:0001878	Hemolytic anemia	3	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0001877	HP:0001878	Hemolytic anemia	3	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040281 - Very frequent		46
HP:0001877	HP:0001878	Hemolytic anemia	3	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.		12
HP:0001877	HP:0001878	Hemolytic anemia	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0001877	HP:0001878	Hemolytic anemia	3	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0001877	HP:0001878	Hemolytic anemia	3	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001877	HP:0001931	Hypochromic anemia	3	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP			2
HP:0001877	HP:0001878	Hemolytic anemia	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0001878	Hemolytic anemia	3	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0001877	HP:0001924	Sideroblastic anemia	3	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001877	HP:0001972	Macrocytic anemia	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001877	HP:0001878	Hemolytic anemia	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0001877	HP:0001878	Hemolytic anemia	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0001877	HP:0001878	Hemolytic anemia	3	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		10
HP:0001877	HP:0001935	Microcytic anemia	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001877	HP:0001972	Macrocytic anemia	3	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001877	HP:0001878	Hemolytic anemia	3	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001877	HP:0001935	Microcytic anemia	3	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0001877	HP:0001878	Hemolytic anemia	3	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.		3
HP:0001877	HP:0001931	Hypochromic anemia	3	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0001877	HP:0001924	Sideroblastic anemia	3	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0001877	HP:0001935	Microcytic anemia	3	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0001877	HP:0001972	Macrocytic anemia	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001877	HP:0001972	Macrocytic anemia	3	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0001877	HP:0001924	Sideroblastic anemia	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001877	HP:0001924	Sideroblastic anemia	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001877	HP:0001878	Hemolytic anemia	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency			127
HP:0001877	HP:0001878	Hemolytic anemia	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0001877	HP:0001878	Hemolytic anemia	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0001877	HP:0001878	Hemolytic anemia	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001877	HP:0001878	Hemolytic anemia	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001877	HP:0001924	Sideroblastic anemia	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001877	HP:0001878	Hemolytic anemia	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0001877	HP:0001878	Hemolytic anemia	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0001877	HP:0001878	Hemolytic anemia	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0001877	HP:0001878	Hemolytic anemia	3	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type	.		13
HP:0001877	HP:0001878	Hemolytic anemia	3	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent		13
HP:0001877	HP:0001878	Hemolytic anemia	3	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.		13
HP:0001877	HP:0001972	Macrocytic anemia	3	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040284 - Very rare		13
HP:0001877	HP:0001878	Hemolytic anemia	3	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent		13
HP:0001877	HP:0001878	Hemolytic anemia	3	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent		8
HP:0001877	HP:0001972	Macrocytic anemia	3	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040284 - Very rare		8
HP:0001877	HP:0001878	Hemolytic anemia	3	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040281 - Very frequent		16
HP:0001877	HP:0001972	Macrocytic anemia	3	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040284 - Very rare		16
HP:0001877	HP:0001935	Microcytic anemia	3	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001877	HP:0001908	Hypoplastic anemia	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001877	HP:0001972	Macrocytic anemia	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0001877	HP:0001878	Hemolytic anemia	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001895	Normochromic anemia	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001895	Normochromic anemia	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.		3
HP:0001877	HP:0001895	Normochromic anemia	3	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.		3
HP:0001877	HP:0001895	Normochromic anemia	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001895	Normochromic anemia	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001895	Normochromic anemia	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001877	HP:0001895	Normochromic anemia	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001895	Normochromic anemia	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001877	HP:0001895	Normochromic anemia	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		11
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001877	HP:0001895	Normochromic anemia	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		40
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001877	HP:0001972	Macrocytic anemia	3	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001877	HP:0001895	Normochromic anemia	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		26
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0001877	HP:0001895	Normochromic anemia	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001877	HP:0001895	Normochromic anemia	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		5
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001877	HP:0001895	Normochromic anemia	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		42
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001877	HP:0001908	Hypoplastic anemia	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001877	HP:0001895	Normochromic anemia	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001877	HP:0001895	Normochromic anemia	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3			22
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0001895	Normochromic anemia	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	.		20
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001895	Normochromic anemia	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001877	HP:0001895	Normochromic anemia	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0001877	HP:0001895	Normochromic anemia	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001877	HP:0001897	Normocytic anemia	3	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13	.		3
HP:0001877	HP:0001895	Normochromic anemia	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001877	HP:0001972	Macrocytic anemia	3	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0001877	HP:0001908	Hypoplastic anemia	3	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.		4
HP:0001877	HP:0001908	Hypoplastic anemia	3	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent		4
HP:0001877	HP:0001972	Macrocytic anemia	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0001877	HP:0001897	Normocytic anemia	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0001877	HP:0001897	Normocytic anemia	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent		19
HP:0001877	HP:0001895	Normochromic anemia	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent		19
HP:0001877	HP:0200143	Megaloblastic erythroid hyperplasia	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent		19
HP:0001877	HP:0001931	Hypochromic anemia	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		19
HP:0001877	HP:0001972	Macrocytic anemia	3	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	HP:0040283 - Occasional		17
HP:0001877	HP:0001935	Microcytic anemia	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001877	HP:0001931	Hypochromic anemia	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001877	HP:0001931	Hypochromic anemia	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001877	HP:0001972	Macrocytic anemia	3	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0001972	Macrocytic anemia	3	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0001924	Sideroblastic anemia	3	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0001877	HP:0001972	Macrocytic anemia	3	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0001935	Microcytic anemia	3	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0001877	HP:0001935	Microcytic anemia	3	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001877	HP:0001924	Sideroblastic anemia	3	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory			41
HP:0001877	HP:0001935	Microcytic anemia	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0001877	HP:0001935	Microcytic anemia	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent		71
HP:0001877	HP:0001935	Microcytic anemia	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001877	HP:0001972	Macrocytic anemia	3	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0001877	HP:0001972	Macrocytic anemia	3	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS	.		109
HP:0001877	HP:0001972	Macrocytic anemia	3	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		109
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent		109
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC4A1 CL E G H	6521	11027	OMIM:166900	Ovalocytosis, hereditary hemolytic	.		109
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	HP:0040283 - Occasional		109
HP:0001877	HP:0001878	Hemolytic anemia	3	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.		109
HP:0001877	HP:0001924	Sideroblastic anemia	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001877	HP:0001935	Microcytic anemia	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		504
HP:0001877	HP:0001935	Microcytic anemia	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0001877	HP:0001878	Hemolytic anemia	3	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0001877	HP:0001878	Hemolytic anemia	3	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2			228
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		228
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary	.		228
HP:0001877	HP:0004835	Microspherocytosis	3	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary	.		228
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTA1 CL E G H	6708	11272	OMIM:270970	Spherocytosis, autosomal recessive	.		228
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		156
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001877	HP:0001878	Hemolytic anemia	3	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0001877	HP:0001935	Microcytic anemia	3	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.		80
HP:0001877	HP:0001935	Microcytic anemia	3	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent		80
HP:0001877	HP:0001897	Normocytic anemia	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001877	HP:0001972	Macrocytic anemia	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001877	HP:0001897	Normocytic anemia	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		1
HP:0001877	HP:0001895	Normochromic anemia	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		1
HP:0001877	HP:0001878	Hemolytic anemia	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001877	HP:0001878	Hemolytic anemia	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001877	HP:0001878	Hemolytic anemia	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001877	HP:0001878	Hemolytic anemia	3	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0001877	HP:0001878	Hemolytic anemia	3	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0001877	HP:0001931	Hypochromic anemia	3	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0001877	HP:0001931	Hypochromic anemia	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001877	HP:0001935	Microcytic anemia	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001877	HP:0001972	Macrocytic anemia	3	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.		57
HP:0001877	HP:0001935	Microcytic anemia	3	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040283 - Occasional		78
HP:0001877	HP:0001931	Hypochromic anemia	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		3
HP:0001877	HP:0001897	Normocytic anemia	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0001895	Normochromic anemia	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0200143	Megaloblastic erythroid hyperplasia	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0001972	Macrocytic anemia	3	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0001895	Normochromic anemia	3	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040283 - Occasional		3
HP:0001877	HP:0001897	Normocytic anemia	3	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040283 - Occasional		3
HP:0001877	HP:0001897	Normocytic anemia	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		3
HP:0001877	HP:0001895	Normochromic anemia	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		3
HP:0001877	HP:0001931	Hypochromic anemia	3	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA	.		45
HP:0001877	HP:0001931	Hypochromic anemia	3	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0001877	HP:0001878	Hemolytic anemia	3	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6			60
HP:0001877	HP:0001935	Microcytic anemia	3	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001877	HP:0001878	Hemolytic anemia	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001877	HP:0001931	Hypochromic anemia	3	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA			65
HP:0001877	HP:0001935	Microcytic anemia	3	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA			65
HP:0001877	HP:0001878	Hemolytic anemia	3	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0001877	HP:0001878	Hemolytic anemia	3	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		32
HP:0001877	HP:0001878	Hemolytic anemia	3	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		12
HP:0001877	HP:0001878	Hemolytic anemia	3	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0001877	HP:0001878	Hemolytic anemia	3	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0001877	HP:0001878	Hemolytic anemia	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001877	HP:0001897	Normocytic anemia	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001877	HP:0001972	Macrocytic anemia	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001877	HP:0001878	Hemolytic anemia	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0001877	HP:0001897	Normocytic anemia	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0001877	HP:0001895	Normochromic anemia	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0001877	HP:0001878	Hemolytic anemia	3	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040282 - Frequent
HP:0001877	HP:0001878	Hemolytic anemia	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001877	HP:0001895	Normochromic anemia	3	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent		56
HP:0001877	HP:0001897	Normocytic anemia	3	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent		56
HP:0001877	HP:0001878	Hemolytic anemia	3	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.		56
HP:0001877	HP:0001924	Sideroblastic anemia	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0001935	Microcytic anemia	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0001931	Hypochromic anemia	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0001895	Normochromic anemia	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001877	HP:0001972	Macrocytic anemia	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001877	HP:0001972	Macrocytic anemia	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.		1
HP:0001877	HP:0001878	Hemolytic anemia	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001877	HP:0001878	Hemolytic anemia	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001877	HP:0001972	Macrocytic anemia	3	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0001877	HP:0001924	Sideroblastic anemia	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001877	HP:0001972	Macrocytic anemia	3	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001877	HP:0001895	Normochromic anemia	3	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001877	HP:0001878	Hemolytic anemia	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0001877	HP:0001878	Hemolytic anemia	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0001877	HP:0001878	Hemolytic anemia	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0001877	HP:0001935	Microcytic anemia	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		65
HP:0001877	HP:0001878	Hemolytic anemia	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		65
HP:0001877	HP:0001931	Hypochromic anemia	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0001878	Hemolytic anemia	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0001972	Macrocytic anemia	3	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0001877	HP:0001924	Sideroblastic anemia	3	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0001877	HP:0001935	Microcytic anemia	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		6
HP:0001877	HP:0001878	Hemolytic anemia	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		6
HP:0001877	HP:0001924	Sideroblastic anemia	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001877	HP:0001924	Sideroblastic anemia	3	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0001877	HP:0001878	Hemolytic anemia	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0001877	HP:0001908	Hypoplastic anemia	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001877	HP:0001931	Hypochromic anemia	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001877	HP:0005524	Macrocytic hemolytic disease	4	CL E G H
HP:0001877	HP:0004864	Refractory sideroblastic anemia	4	CL E G H
HP:0001877	HP:0031484	Cold-induced hemolysis	4	CL E G H
HP:0001877	HP:0004857	Hyperchromic macrocytic anemia	4	CL E G H
HP:0001877	HP:0004802	Episodic hemolytic anemia	4	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040284 - Very rare		20
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.		35
HP:0001877	HP:0001891	Iron deficiency anemia	4	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0001877	HP:0004870	Chronic hemolytic anemia	4	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0001877	HP:0004802	Episodic hemolytic anemia	4	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.		75
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.		129
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.		72
HP:0001877	HP:0001891	Iron deficiency anemia	4	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked	HP:0040283 - Occasional		72
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0001877	HP:0001891	Iron deficiency anemia	4	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001877	HP:0001889	Megaloblastic anemia	4	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2			25
HP:0001877	HP:0001889	Megaloblastic anemia	4	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent		25
HP:0001877	HP:0005525	Spontaneous hemolytic crises	4	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0001877	HP:0001891	Iron deficiency anemia	4	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS			169
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0001877	HP:0001891	Iron deficiency anemia	4	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent		169
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		5769
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		7642
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1086
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.		92
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89			5
HP:0001877	HP:0004814	Fava bean-induced hemolytic anemia	4	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		87
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		87
HP:0001877	HP:0001891	Iron deficiency anemia	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.		87
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0001877	HP:0001889	Megaloblastic anemia	4	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25			8
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	HP:0040283 - Occasional		19
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.		39
HP:0001877	HP:0001891	Iron deficiency anemia	4	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.		30
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.		86
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.		57
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		118
HP:0001877	HP:0001891	Iron deficiency anemia	4	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0001877	HP:0001891	Iron deficiency anemia	4	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2	HP:0040284 - Very rare
HP:0001877	HP:0001891	Iron deficiency anemia	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare		284
HP:0001877	HP:0001891	Iron deficiency anemia	4	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent		263
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040281 - Very frequent		115
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0001877	HP:0001889	Megaloblastic anemia	4	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent		273
HP:0001877	HP:0001889	Megaloblastic anemia	4	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0001877	HP:0001891	Iron deficiency anemia	4	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001877	HP:0001889	Megaloblastic anemia	4	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0001877	HP:0004856	Normochromic microcytic anemia	4	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent		25
HP:0001877	HP:0004856	Normochromic microcytic anemia	4	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent		25
HP:0001877	HP:0001891	Iron deficiency anemia	4	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0001877	HP:0001891	Iron deficiency anemia	4	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001877	HP:0004804	Congenital hemolytic anemia	4	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		6
HP:0001877	HP:0005525	Spontaneous hemolytic crises	4	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		158
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		340
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		58
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		410
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		147
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		87
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		157
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		53
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		107
HP:0001877	HP:0001891	Iron deficiency anemia	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		59
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		59
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		59
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		59
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		59
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		37
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		37
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		37
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		37
HP:0001877	HP:0001891	Iron deficiency anemia	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		37
HP:0001877	HP:0001891	Iron deficiency anemia	4	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0001877	HP:0001891	Iron deficiency anemia	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare		9
HP:0001877	HP:0001891	Iron deficiency anemia	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent		32
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional		32
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001877	HP:0001889	Megaloblastic anemia	4	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0001877	HP:0001889	Megaloblastic anemia	4	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.		65
HP:0001877	HP:0004814	Fava bean-induced hemolytic anemia	4	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0001877	HP:0001891	Iron deficiency anemia	4	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		29
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0001877	HP:0005525	Spontaneous hemolytic crises	4	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0001877	HP:0004863	Compensated hemolytic anemia	4	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency	.		1
HP:0001877	HP:0004814	Fava bean-induced hemolytic anemia	4	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY			1
HP:0001877	HP:0004804	Congenital hemolytic anemia	4	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		5
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA	.		200
HP:0001877	HP:0005511	Heinz body anemia	4	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias	.		200
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias	.		200
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA	.		88
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias	.		88
HP:0001877	HP:0005511	Heinz body anemia	4	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias	.		88
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA	.		580
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA	.		580
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent		580
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent		580
HP:0001877	HP:0005511	Heinz body anemia	4	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias	.		580
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias	.		580
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent		580
HP:0001877	HP:0004817	Drug-sensitive hemolytic anemia	4	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040283 - Occasional		580
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0001877	HP:0001891	Iron deficiency anemia	4	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent		580
HP:0001877	HP:0004870	Chronic hemolytic anemia	4	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040280 - Obligate		580
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA	.		1
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.		11
HP:0001877	HP:0001891	Iron deficiency anemia	4	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001877	HP:0001891	Iron deficiency anemia	4	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0001877	HP:0001889	Megaloblastic anemia	4	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001877	HP:0001891	Iron deficiency anemia	4	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040283 - Occasional		148
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent		3
HP:0001877	HP:0004804	Congenital hemolytic anemia	4	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0001877	HP:0001891	Iron deficiency anemia	4	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040283 - Occasional		730
HP:0001877	HP:0004810	Congenital hypoplastic anemia	4	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.		1
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001877	HP:0001889	Megaloblastic anemia	4	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent		46
HP:0001877	HP:0001889	Megaloblastic anemia	4	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0001877	HP:0004810	Congenital hypoplastic anemia	4	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1
HP:0001877	HP:0001889	Megaloblastic anemia	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent		101
HP:0001877	HP:0001889	Megaloblastic anemia	4	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0001877	HP:0001889	Megaloblastic anemia	4	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0001877	HP:0001891	Iron deficiency anemia	4	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent		6
HP:0001877	HP:0001889	Megaloblastic anemia	4	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.		5
HP:0001877	HP:0001889	Megaloblastic anemia	4	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.		217
HP:0001877	HP:0001889	Megaloblastic anemia	4	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.		88
HP:0001877	HP:0004819	Normocytic hypoplastic anemia	4	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001877	HP:0001891	Iron deficiency anemia	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0001877	HP:0004870	Chronic hemolytic anemia	4	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1349
HP:0001877	HP:0001889	Megaloblastic anemia	4	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0001877	HP:0001889	Megaloblastic anemia	4	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		11
HP:0001877	HP:0004804	Congenital hemolytic anemia	4	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent		36
HP:0001877	HP:0008269	Increased red cell hemolysis by shear stress	4	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	.		36
HP:0001877	HP:0005535	Exercise-induced hemolysis	4	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	.		36
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0001877	HP:0004804	Congenital hemolytic anemia	4	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent		51
HP:0001877	HP:0004870	Chronic hemolytic anemia	4	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040281 - Very frequent		51
HP:0001877	HP:0004870	Chronic hemolytic anemia	4	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.		51
HP:0001877	HP:0001891	Iron deficiency anemia	4	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP			2
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.		52
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040282 - Frequent		52
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional		92
HP:0001877	HP:0001889	Megaloblastic anemia	4	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		10
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		10
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		9
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		391
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040282 - Frequent		127
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		127
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		50
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		38
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		26
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		34
HP:0001877	HP:0004810	Congenital hypoplastic anemia	4	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		11
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		40
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		26
HP:0001877	HP:0004861	Refractory macrocytic anemia	4	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		5
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		42
HP:0001877	HP:0004810	Congenital hypoplastic anemia	4	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0001877	HP:0001891	Iron deficiency anemia	4	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0001877	HP:0001889	Megaloblastic anemia	4	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0004802	Episodic hemolytic anemia	4	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0001889	Megaloblastic anemia	4	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001877	HP:0001889	Megaloblastic anemia	4	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent		55
HP:0001877	HP:0005525	Spontaneous hemolytic crises	4	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0001877	HP:0001889	Megaloblastic anemia	4	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0001877	HP:0001889	Megaloblastic anemia	4	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040281 - Very frequent		101
HP:0001877	HP:0004804	Congenital hemolytic anemia	4	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0001877	HP:0001930	Nonspherocytic hemolytic anemia	4	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent		109
HP:0001877	HP:0005525	Spontaneous hemolytic crises	4	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		274
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001877	HP:0004804	Congenital hemolytic anemia	4	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		228
HP:0001877	HP:0005525	Spontaneous hemolytic crises	4	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0001877	HP:0004870	Chronic hemolytic anemia	4	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0001877	HP:0004804	Congenital hemolytic anemia	4	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		156
HP:0001877	HP:0005525	Spontaneous hemolytic crises	4	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional		89
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent		2
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.		31
HP:0001877	HP:0001891	Iron deficiency anemia	4	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.		740
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001877	HP:0001937	Microangiopathic hemolytic anemia	4	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.		60
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA			65
HP:0001877	HP:0004844	Coombs-positive hemolytic anemia	4	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0001877	HP:0004870	Chronic hemolytic anemia	4	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001877	HP:0004840	Hypochromic microcytic anemia	4	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001877	HP:0005532	Macrocytic dyserythropoietic anemia	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		26
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional		26
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		2
HP:0001877	HP:0001889	Megaloblastic anemia	4	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0001877	HP:0001891	Iron deficiency anemia	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.		65
HP:0001877	HP:0001889	Megaloblastic anemia	4	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0001877	HP:0005522	Pyridoxine-responsive sideroblastic anemia	4	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		125
HP:0001877	HP:0001890	Autoimmune hemolytic anemia	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040284 - Very rare		46
HP:0001877	HP:0004810	Congenital hypoplastic anemia	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001877	HP:0001891	Iron deficiency anemia	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001877	HP:0004851	Folate-responsive megaloblastic anemia	5	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES			1
HP:0001877	HP:0004860	Thiamine-responsive megaloblastic anemia	5	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0001877	HP:0004851	Folate-responsive megaloblastic anemia	5	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.		101
HP:0001877	HP:0003339	Pyrimidine-responsive megaloblastic anemia	5	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.		135
HP:0001877	HP:0004826	Folate-unresponsive megaloblastic anemia	5	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.		135