TaoMedAI/RareMedData huggingface dataset:
Gene: RPS28
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
Gene: RPS28
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
Gene: RPS28
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: RPS28
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
Gene: RPS28
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: RPS28
Phenotype: Broad neck (HP:0000475)
Associated disease: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
Gene: RPS28
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
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: RPS28
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: RPS28
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
Gene: RPS28
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: RPS28
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: RPS28
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
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: RPS28
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS28
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: RPS29
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: RPS29
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: DIAMOND-BLACKFAN ANEMIA 13 (OMIM:615909)
Gene: RPS29
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIAMOND-BLACKFAN ANEMIA 13 (OMIM:615909)
Gene: RPS29
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: RPS29
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
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: RPS29
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIAMOND-BLACKFAN ANEMIA 13 (OMIM:615909)
Gene: RPS29
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: RPS29
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
Phenotype: Absent thumb (HP:0009777)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Short thumb (HP:0009778)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
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: RPS29
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: DIAMOND-BLACKFAN ANEMIA 13 (OMIM:615909)
Gene: RPS29
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Childhood onset (HP:0011463)
Associated disease: DIAMOND-BLACKFAN ANEMIA 13 (OMIM:615909)
Gene: RPS29
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
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: RPS29
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: RPS29
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: High palate (HP:0000218)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
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: RPS29
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
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: RPS29
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: RPS29
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: RPS29
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RPS29
Phenotype: Elevated red cell adenosine deaminase activity (HP:0030270)
Associated disease: DIAMOND-BLACKFAN ANEMIA 13 (OMIM:615909)
Gene: RPS29
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: RPS29
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: RPS29
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: RPS29
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: DIAMOND-BLACKFAN ANEMIA 13 (OMIM:615909)
Gene: RPS29
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: RPS29
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS29
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: RRAD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RRAD
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RRAD
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RRAD
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RRAD
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RRAD
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RRAD
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RRAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RRAS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RRAS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RRAS
Phenotype: Coarse hair (HP:0002208)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RRAS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Lymphedema (HP:0001004)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RRAS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RRAS
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Noonan syndrome (ORPHA:648)