TaoMedAI/RareMedData huggingface dataset:
Gene: PLPBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Low APGAR score (HP:0030917)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Apnea (HP:0002104)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Esodeviation (HP:0020045)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Irritability (HP:0000737)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Irritability (HP:0000737)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Restlessness (HP:0000711)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Prenatal movement abnormality (HP:0001557)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Long philtrum (HP:0000343)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Tonic seizure (HP:0032792)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Early onset absence seizures (HP:0011152)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Brain atrophy (HP:0012444)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: MRPL3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Death in childhood (HP:0003819)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Dyspnea (HP:0002094)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Elevated serum anion gap (HP:0031962)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: MRPL3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Gene: RPL35
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: RPL35
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIAMOND-BLACKFAN ANEMIA 19 (OMIM:618312)
Gene: RPL35
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: RPL35
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: DIAMOND-BLACKFAN ANEMIA 19 (OMIM:618312)
Gene: RPL35
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
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: RPL35
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: RPL35
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
Phenotype: Absent thumb (HP:0009777)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Short thumb (HP:0009778)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
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: RPL35
Phenotype: Anemia (HP:0001903)
Associated disease: DIAMOND-BLACKFAN ANEMIA 19 (OMIM:618312)
Gene: RPL35
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Steroid-responsive anemia (HP:0033074)
Associated disease: DIAMOND-BLACKFAN ANEMIA 19 (OMIM:618312)
Gene: RPL35
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
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: RPL35
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: RPL35
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: High palate (HP:0000218)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
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: RPL35
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
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: RPL35
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: RPL35
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: RPL35
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
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: RPL35
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: RPL35
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: RPL35
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: RPL35
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL35
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: SEC63
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617004)
Gene: SEC63
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Early satiety (HP:0033842)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617004)
Gene: SEC63
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)