TaoMedAI/RareMedData huggingface dataset:
Gene: RPS17
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Growth delay (HP:0001510)
Associated disease: DIAMOND-BLACKFAN ANEMIA 4 (OMIM:612527)
Gene: RPS17
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DIAMOND-BLACKFAN ANEMIA 4 (OMIM:612527)
Gene: RPS17
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
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: RPS17
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: RPS17
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: RPS17
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: RPS17
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: DIAMOND-BLACKFAN ANEMIA 4 (OMIM:612527)
Gene: RPS17
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
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: RPS17
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS17
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: DIAMOND-BLACKFAN ANEMIA 4 (OMIM:612527)
Gene: RPS17
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: RPS19
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Abnormality of the thenar eminence (HP:0001227)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Parietal foramina (HP:0002697)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Cleft palate (HP:0000175)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Congenital onset (HP:0003577)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Congenital hypoplastic anemia (HP:0004810)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Radial artery aplasia (HP:0020118)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Hypoplastic sacral vertebrae (HP:0008475)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Absent thumb (HP:0009777)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Absent thumb (HP:0009777)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Hypoplastic coccygeal vertebrae (HP:0008447)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Short thumb (HP:0009778)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Short thumb (HP:0009778)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Bifid thoracic vertebrae (HP:0008437)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Macrocytic dyserythropoietic anemia (HP:0005532)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Short stature (HP:0004322)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Colon cancer (HP:0003003)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Childhood onset (HP:0011463)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Young adult onset (HP:0011462)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Narrow chest (HP:0000774)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Primary congenital glaucoma (HP:0008007)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Pallor (HP:0000980)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Epicanthus (HP:0000286)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Retrognathia (HP:0000278)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Abnormality of the head (HP:0000234)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Microcephaly (HP:0000252)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: High palate (HP:0000218)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: High palate (HP:0000218)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Micrognathia (HP:0000347)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Premature birth (HP:0001622)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Strabismus (HP:0000486)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Short neck (HP:0000470)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Webbed neck (HP:0000465)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
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: RPS19
Phenotype: Elevated red cell adenosine deaminase activity (HP:0030270)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
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: RPS19
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: RPS19
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: RPS19
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
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: RPS19
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS19
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Gene: RPS19
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: RPS19
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)