TaoMedAI/RareMedData huggingface dataset:
Gene: RFWD3
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal radial ray morphology (HP:0410049)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Congenital onset (HP:0003577)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Chiari malformation (HP:0002308)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Growth delay (HP:0001510)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Polysplenia (HP:0001748)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Megakaryocyte dysplasia (HP:0031689)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Gene: RFWD3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PNPO
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Abnormal circulating tyrosine concentration (HP:0010917)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Abnormal circulating histidine concentration (HP:0010904)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Abnormal circulating threonine concentration (HP:0010900)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Abnormal circulating arginine concentration (HP:0010909)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Abnormal circulating glycine concentration (HP:0010895)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Encephalopathy (HP:0001298)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Hypertonia (HP:0001276)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Hypertonia (HP:0001276)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Seizure (HP:0001250)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Seizure (HP:0001250)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Myoclonus (HP:0001336)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Myoclonus (HP:0001336)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: High-pitched cry (HP:0025430)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Low APGAR score (HP:0030917)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Status epilepticus (HP:0002133)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Anemia (HP:0001903)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)