TaoMedAI/RareMedData huggingface dataset:
Gene: HBA2
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: HbH hemoglobin (HP:0011903)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: HbH hemoglobin (HP:0011903)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBA2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBA2
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: ALPHA-THALASSEMIA (OMIM:604131)
Gene: HBA2
Phenotype: Heinz bodies (HP:0020082)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBA2
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Heinz body anemia (HP:0005511)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBA2
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBA2
Phenotype: Anemia (HP:0001903)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Gene: HBA2
Phenotype: Polycythemia (HP:0001901)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Gene: HBA2
Phenotype: Short stature (HP:0004322)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Pallor (HP:0000980)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: High palate (HP:0000218)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Fatigue (HP:0012378)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: High forehead (HP:0000348)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Pericarditis (HP:0001701)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Short neck (HP:0000470)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBA2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Short toe (HP:0001831)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Gene: HBA2
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBB
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Hypochromia (HP:0032231)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Stroke (HP:0001297)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Abnormality of the vasculature (HP:0002597)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Chronic infection (HP:0031035)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Chronic infection (HP:0031035)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Finger dactylitis (HP:0031090)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Retinal arterial occlusion (HP:0025326)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Gene: HBB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Gene: HBB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: METHEMOGLOBINEMIA, BETA TYPE (OMIM:617971)
Gene: HBB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 6 (OMIM:617980)
Gene: HBB
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Methemoglobinemia (HP:0012119)
Associated disease: METHEMOGLOBINEMIA, BETA TYPE (OMIM:617971)
Gene: HBB
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: HbE-beta-thalassemia syndrome; Hemoglobin E-beta-thalassemia syndrome; E-beta-thalassemia (ORPHA:231249)
Gene: HBB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Abnormal bone structure (HP:0003330)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBB
Phenotype: Diarrhea (HP:0002014)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Diarrhea (HP:0002014)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Dyspnea (HP:0002094)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Dyspnea (HP:0002094)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Reduced beta/alpha synthesis ratio (HP:0011906)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Reduced beta/alpha synthesis ratio (HP:0011906)
Associated disease: BETA-THALASSEMIA (OMIM:613985)
Gene: HBB
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated disease: ALPHA-THALASSEMIA (OMIM:604131)
Gene: HBB
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: C-beta-thalassemia; HbC-beta-thalassemia syndrome; Hemoglobin C-beta-thalassemia syndrome (ORPHA:231242)
Gene: HBB
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: HbE-beta-thalassemia syndrome; Hemoglobin E-beta-thalassemia syndrome; E-beta-thalassemia (ORPHA:231249)
Gene: HBB
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBB
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Gene: HBB
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBB
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Gene: HBB
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Reduced hemoglobin A (HP:0011905)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Reduced hemoglobin A (HP:0011905)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Reduced hemoglobin A (HP:0011905)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)