TaoMedAI/RareMedData huggingface dataset:
Gene: STX1B
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Childhood onset (HP:0011463)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Tonic seizure (HP:0032792)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: KRT71
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTRICHOSIS 13 (OMIM:615896)
Gene: KRT71
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS 13 (OMIM:615896)
Gene: KRT71
Phenotype: Woolly hair (HP:0002224)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Woolly hair (HP:0002224)
Associated disease: HYPOTRICHOSIS 13 (OMIM:615896)
Gene: KRT71
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Fine hair (HP:0002213)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Brittle hair (HP:0002299)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS 13 (OMIM:615896)
Gene: KRT71
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: HYPOTRICHOSIS 13 (OMIM:615896)
Gene: KRT71
Phenotype: Sparse hair (HP:0008070)
Associated disease: HYPOTRICHOSIS 13 (OMIM:615896)
Gene: KRT71
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: HYPOTRICHOSIS 13 (OMIM:615896)
Gene: KRT71
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Strabismus (HP:0000486)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT71
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: HYPOTRICHOSIS 13 (OMIM:615896)
Gene: KRT71
Phenotype: Cataract (HP:0000518)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: FDX2
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Waddling gait (HP:0002515)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Macroglossia (HP:0000158)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Myalgia (HP:0003326)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Dyspnea (HP:0002094)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Gowers sign (HP:0003391)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Ketonuria (HP:0002919)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Visual impairment (HP:0000505)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: FDX2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Gene: HOGA1
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE III (OMIM:613616)
Gene: HOGA1
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: HOGA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE III (OMIM:613616)
Gene: HOGA1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: HOGA1
Phenotype: Pollakisuria (HP:0100515)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: HOGA1
Phenotype: Dysuria (HP:0100518)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: HOGA1
Phenotype: Increased urine 4-hydroxy-2-oxoglutarate level (HP:6001009)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE III (OMIM:613616)
Gene: HOGA1
Phenotype: Hematuria (HP:0000790)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: HOGA1
Phenotype: Abnormality of urine homeostasis (HP:0003110)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: HOGA1
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE III (OMIM:613616)
Gene: HOGA1
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: HOGA1
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: HOGA1
Phenotype: Pain (HP:0012531)
Associated disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Gene: TP53RK
Phenotype: Tapered finger (HP:0001182)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Seizure (HP:0001250)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Hypotonia (HP:0001252)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Spasticity (HP:0001257)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Congenital nephrotic syndrome (HP:0008677)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Prominent glabella (HP:0002057)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Infantile onset (HP:0003593)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Congenital onset (HP:0003577)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Large face (HP:0100729)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Short stature (HP:0004322)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)