TaoMedAI/RareMedData huggingface dataset:
Gene: HBB
Phenotype: Reduced hemoglobin A (HP:0011905)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Hyphema (HP:0011886)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Gene: HBB
Phenotype: Chronic hemolytic anemia (HP:0004870)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Chronic hepatitis (HP:0200123)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Chest pain (HP:0100749)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Increased red cell sickling tendency (HP:0008346)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Increased red cell sickling tendency (HP:0008346)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Pigment gallstones (HP:0011981)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Malar prominence (HP:0010620)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Malar prominence (HP:0010620)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: ALPHA-THALASSEMIA (OMIM:604131)
Gene: HBB
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: BETA-THALASSEMIA (OMIM:613985)
Gene: HBB
Phenotype: Heinz bodies (HP:0020082)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBB
Phenotype: Erythrocyte inclusion bodies (HP:0020080)
Associated disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Gene: HBB
Phenotype: Drug-sensitive hemolytic anemia (HP:0004817)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Increased red blood cell count (HP:0020059)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Priapism (HP:0200023)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Priapism (HP:0200023)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Severe infection (HP:0032169)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Increased red cell osmotic resistance (HP:0005546)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Heinz body anemia (HP:0005511)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBB
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Imbalanced hemoglobin synthesis (HP:0005560)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Gene: HBB
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBB
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: C-beta-thalassemia; HbC-beta-thalassemia syndrome; Hemoglobin C-beta-thalassemia syndrome (ORPHA:231242)
Gene: HBB
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBB
Phenotype: Anemia (HP:0001903)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBB
Phenotype: Anemia (HP:0001903)
Associated disease: C-beta-thalassemia; HbC-beta-thalassemia syndrome; Hemoglobin C-beta-thalassemia syndrome (ORPHA:231242)
Gene: HBB
Phenotype: Anemia (HP:0001903)
Associated disease: HbE-beta-thalassemia syndrome; Hemoglobin E-beta-thalassemia syndrome; E-beta-thalassemia (ORPHA:231249)
Gene: HBB
Phenotype: Anemia (HP:0001903)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBB
Phenotype: Anemia (HP:0001903)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 6 (OMIM:617980)
Gene: HBB
Phenotype: Polycythemia (HP:0001901)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 6 (OMIM:617980)
Gene: HBB
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Irritability (HP:0000737)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Irritability (HP:0000737)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Hematuria (HP:0000790)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Target cells (HP:0034280)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Hypertension (HP:0000822)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: HbS hemoglobin (HP:0045047)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: HbS hemoglobin (HP:0045047)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Increased HbA2 hemoglobin (HP:0045048)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Increased HbA2 hemoglobin (HP:0045048)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Increased HbA2 hemoglobin (HP:0045048)
Associated disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Gene: HBB
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HbE-beta-thalassemia syndrome; Hemoglobin E-beta-thalassemia syndrome; E-beta-thalassemia (ORPHA:231249)
Gene: HBB
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Pallor (HP:0000980)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Pallor (HP:0000980)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBB
Phenotype: Pallor (HP:0000980)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Pallor (HP:0000980)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Pallor (HP:0000980)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Splenic infarction (HP:0034336)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Splenic infarction (HP:0034336)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Splenic infarction (HP:0034336)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Jaundice (HP:0000952)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Jaundice (HP:0000952)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Jaundice (HP:0000952)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Jaundice (HP:0000952)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Jaundice (HP:0000952)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Cyanosis (HP:0000961)
Associated disease: METHEMOGLOBINEMIA, BETA TYPE (OMIM:617971)
Gene: HBB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Osteopenia (HP:0000938)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Decreased mean corpuscular hemoglobin concentration (HP:0025547)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Decreased mean corpuscular hemoglobin concentration (HP:0025547)
Associated disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Gene: HBB
Phenotype: Decreased mean corpuscular hemoglobin concentration (HP:0025547)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Decreased mean corpuscular hemoglobin concentration (HP:0025547)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Sickled erythrocytes (HP:0030058)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Arthralgia (HP:0002829)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Arthralgia (HP:0002829)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Arthralgia (HP:0002829)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Genu valgum (HP:0002857)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Genu valgum (HP:0002857)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Growth delay (HP:0001510)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Growth delay (HP:0001510)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Miscarriage (HP:0005268)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Premature birth (HP:0001622)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: High-output congestive heart failure (HP:0001722)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: High-output congestive heart failure (HP:0001722)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: High-output congestive heart failure (HP:0001722)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Retinopathy (HP:0000488)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Retinopathy (HP:0000488)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Retinopathy (HP:0000488)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Hypoxemia (HP:0012418)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Asplenia (HP:0001746)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: C-beta-thalassemia; HbC-beta-thalassemia syndrome; Hemoglobin C-beta-thalassemia syndrome (ORPHA:231242)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Beta-thalassemia intermedia (ORPHA:231222)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)