Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011902	HP:0011902	Abnormal hemoglobin	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome		245
HP:0011902	HP:0011902	Abnormal hemoglobin	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0011902	HP:0011902	Abnormal hemoglobin	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011902	HP:0011902	Abnormal hemoglobin	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0011902	HP:0011902	Abnormal hemoglobin	0	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0011902	HP:0011902	Abnormal hemoglobin	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0011902	HP:0011902	Abnormal hemoglobin	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0011902	HP:0011902	Abnormal hemoglobin	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0011902	HP:0011902	Abnormal hemoglobin	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0011902	HP:0011902	Abnormal hemoglobin	0	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0011902	HP:0011902	Abnormal hemoglobin	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0011902	HP:0011902	Abnormal hemoglobin	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0011902	HP:0011902	Abnormal hemoglobin	0	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0011902	HP:0011902	Abnormal hemoglobin	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia		2
HP:0011902	HP:0011902	Abnormal hemoglobin	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0011902	HP:0011902	Abnormal hemoglobin	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia		24
HP:0011902	HP:0011902	Abnormal hemoglobin	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase		24
HP:0011902	HP:0011902	Abnormal hemoglobin	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0011902	HP:0011902	Abnormal hemoglobin	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0011902	HP:0011902	Abnormal hemoglobin	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent	43
HP:0011902	HP:0011902	Abnormal hemoglobin	0	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	HP:0040281 - Very frequent	29
HP:0011902	HP:0011902	Abnormal hemoglobin	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0011902	HP:0011902	Abnormal hemoglobin	0	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM		237
HP:0011902	HP:0011902	Abnormal hemoglobin	0	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA		200
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent	200
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease		200
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE		200
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA		88
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent	88
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease		88
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent	580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	OMIM:141749	Fetal hemoglobin quantitative trait locus 1		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome	HP:0040281 - Very frequent	580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent	580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:231249	Hemoglobin E-beta-thalassemia syndrome	HP:0040281 - Very frequent	580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	OMIM:617971	Methemoglobinemia, Beta type		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA		1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBD CL E G H	3045	4829	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent	52
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBG1 CL E G H	3047	4831	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent	35
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBG1 CL E G H	3047	4831	OMIM:141749	Fetal hemoglobin quantitative trait locus 1		35
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome		35
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal		50
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBG2 CL E G H	3048	4832	OMIM:141749	Fetal hemoglobin quantitative trait locus 1		50
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome		50
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0011902	HP:0011902	Abnormal hemoglobin	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0011902	HP:0011902	Abnormal hemoglobin	0	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0011902	HP:0011902	Abnormal hemoglobin	0	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0011902	HP:0011902	Abnormal hemoglobin	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome		127
HP:0011902	HP:0011902	Abnormal hemoglobin	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3		127
HP:0011902	HP:0011902	Abnormal hemoglobin	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0011902	HP:0011902	Abnormal hemoglobin	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0011902	HP:0011902	Abnormal hemoglobin	0	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome		42
HP:0011902	HP:0011902	Abnormal hemoglobin	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0011902	HP:0011902	Abnormal hemoglobin	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0011902	HP:0011902	Abnormal hemoglobin	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040281 - Very frequent	97
HP:0011902	HP:0011902	Abnormal hemoglobin	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011902	HP:0011902	Abnormal hemoglobin	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome		34
HP:0011902	HP:0011902	Abnormal hemoglobin	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0011902	HP:0011902	Abnormal hemoglobin	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0011902	HP:0011902	Abnormal hemoglobin	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0011902	HP:0011902	Abnormal hemoglobin	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011902	HP:0011902	Abnormal hemoglobin	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011902	HP:0011902	Abnormal hemoglobin	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0011902	HP:0011902	Abnormal hemoglobin	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040281 - Very frequent	23
HP:0011902	HP:0011902	Abnormal hemoglobin	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0011902	HP:0011902	Abnormal hemoglobin	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011902	HP:0011902	Abnormal hemoglobin	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0011902	HP:0011902	Abnormal hemoglobin	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0011902	HP:0011902	Abnormal hemoglobin	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011902	HP:0032146	HbC hemoglobin	1	CL E G H
HP:0011902	HP:0005507	Hemoglobin Barts	1	CL E G H
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040281 - Very frequent	245
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent	245
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent	2
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0011902	HP:0011903	HbH hemoglobin	1	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0011902	HP:0011903	HbH hemoglobin	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent	169
HP:0011902	HP:0011903	HbH hemoglobin	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0011902	HP:0045047	HbS hemoglobin	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent	75
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent	25
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0011902	HP:0012119	Methemoglobinemia	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040281 - Very frequent	2
HP:0011902	HP:0012119	Methemoglobinemia	1	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0011902	HP:0012119	Methemoglobinemia	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040281 - Very frequent	24
HP:0011902	HP:0012119	Methemoglobinemia	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.	24
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM		237
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent	237
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA		200
HP:0011902	HP:0011903	HbH hemoglobin	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent	200
HP:0011902	HP:0011903	HbH hemoglobin	1	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.	200
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease		200
HP:0011902	HP:0012119	Methemoglobinemia	1	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE		200
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA		88
HP:0011902	HP:0011903	HbH hemoglobin	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent	88
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease		88
HP:0011902	HP:0011903	HbH hemoglobin	1	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.	88
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA		580
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA		580
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040281 - Very frequent	580
HP:0011902	HP:0045048	Increased HbA2 hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent	580
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0011902	HP:0011905	Reduced hemoglobin A	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0011902	HP:0045048	Increased HbA2 hemoglobin	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0011902	HP:0011905	Reduced hemoglobin A	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040281 - Very frequent	580
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040281 - Very frequent	580
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBB CL E G H	3043	4827	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	580
HP:0011902	HP:0045047	HbS hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0011902	HP:0045048	Increased HbA2 hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0011902	HP:0011905	Reduced hemoglobin A	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0011902	HP:0011905	Reduced hemoglobin A	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040282 - Frequent	580
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent	580
HP:0011902	HP:0045047	HbS hemoglobin	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0011902	HP:0012119	Methemoglobinemia	1	HBB CL E G H	3043	4827	OMIM:617971	Methemoglobinemia, Beta type	.	580
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0011902	HP:0005560	Imbalanced hemoglobin synthesis	1	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA		1
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBG1 CL E G H	3047	4831	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	35
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent	35
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0011902	HP:0045047	HbS hemoglobin	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0011902	HP:0012119	Methemoglobinemia	1	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	.	50
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBG2 CL E G H	3048	4832	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	50
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent	50
HP:0011902	HP:0045047	HbS hemoglobin	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent	161
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent	138
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent	62
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040281 - Very frequent	127
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.	127
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent	127
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent	42
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0011902	HP:0045047	HbS hemoglobin	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent	78
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040281 - Very frequent	34
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent	32
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent	55
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent	30
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0011902	HP:0040217	Elevated hemoglobin A1c	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0011902	HP:0011904	Persistence of hemoglobin F	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011902	HP:0011907	Reduced alpha/beta synthesis ratio	2	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0011902	HP:0011907	Reduced alpha/beta synthesis ratio	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0011902	HP:0011907	Reduced alpha/beta synthesis ratio	2	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA	.	200
HP:0011902	HP:0011907	Reduced alpha/beta synthesis ratio	2	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.	200
HP:0011902	HP:0011907	Reduced alpha/beta synthesis ratio	2	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA	.	88
HP:0011902	HP:0011907	Reduced alpha/beta synthesis ratio	2	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.	88
HP:0011902	HP:0011907	Reduced alpha/beta synthesis ratio	2	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA	.	580
HP:0011902	HP:0011906	Reduced beta/alpha synthesis ratio	2	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA	.	580
HP:0011902	HP:0011907	Reduced alpha/beta synthesis ratio	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0011902	HP:0011906	Reduced beta/alpha synthesis ratio	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0011902	HP:0011906	Reduced beta/alpha synthesis ratio	2	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA	.	1