TaoMedAI/RareMedData huggingface dataset:
Gene: GATA1
Phenotype: Elevated red cell adenosine deaminase activity (HP:0030270)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Pure red cell aplasia (HP:0012410)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Beta-thalassemia-X-linked thrombocytopenia syndrome; XLTT (ORPHA:231393)
Gene: GATA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Epistaxis (HP:0000421)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Epistaxis (HP:0000421)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Anisocytosis (HP:0011273)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Anisocytosis (HP:0011273)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Anisocytosis (HP:0011273)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Beta-thalassemia-X-linked thrombocytopenia syndrome; XLTT (ORPHA:231393)
Gene: GATA1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO (OMIM:301083)
Gene: GATA1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Beta-thalassemia-X-linked thrombocytopenia syndrome; XLTT (ORPHA:231393)
Gene: GATA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA2
Phenotype: Tapered finger (HP:0001182)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Acute leukemia (HP:0002488)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Cervical intraepithelial neoplasia (HP:0032242)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Long fingers (HP:0100807)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: GATA2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: GATA2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: GATA2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Migraine (HP:0002076)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Abnormal total neutrophil count (HP:0011991)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: GATA2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Lymphedema (HP:0001004)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Vertigo (HP:0002321)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Verrucae (HP:0200043)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Fever (HP:0001945)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Leukemia (HP:0001909)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Pallor (HP:0000980)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Epicanthus (HP:0000286)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: GATA2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Megakaryocyte nucleus hypolobulation (HP:0031385)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Fatigue (HP:0012378)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Myeloid leukemia (HP:0012324)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Decreased total monocyte count (HP:0012312)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Recurrent mycobacterium avium complex infections (HP:0011275)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Weight loss (HP:0001824)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA2
Phenotype: Visual loss (HP:0000572)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GATA2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Gene: GATA2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Gene: GATA2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Gene: GATA3
Phenotype: Septate vagina (HP:0001153)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Septate vagina (HP:0001153)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Tetany (HP:0001281)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Unilateral renal dysplasia (HP:0008718)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Proteinuria (HP:0000093)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Distal renal tubular acidosis (HP:0008341)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Hematuria (HP:0000790)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)