TaoMedAI/RareMedData huggingface dataset:
Gene: PIGA
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Proteinuria (HP:0000093)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hepatic failure (HP:0001399)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Cirrhosis (HP:0001394)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cirrhosis (HP:0001394)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Micropenis (HP:0000054)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hypospadias (HP:0000047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: EEG with generalized polyspikes (HP:0012001)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Starry sky appearance on hepatic sonography (HP:0031145)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Dystonia (HP:0001332)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Olfactory lobe agenesis (HP:0001341)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Absent speech (HP:0001344)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: PIGA
Phenotype: Myoclonus (HP:0001336)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Budd-Chiari syndrome (HP:0002639)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Scoliosis (HP:0002650)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Scoliosis (HP:0002650)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal visual fixation (HP:0025404)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Asthenia (HP:0025406)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 (OMIM:300818)
Gene: PIGA
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Dysphagia (HP:0002015)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Grasp reflex (HP:0030903)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormality of the supraorbital ridges (HP:0100538)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Dyspnea (HP:0002094)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Pneumonia (HP:0002090)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Rigidity (HP:0002063)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Abnormality of the glabella (HP:0002056)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Babinski sign (HP:0003487)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Apnea (HP:0002104)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Postural tremor (HP:0002174)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Postural tremor (HP:0002174)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Gliosis (HP:0002171)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Congenital onset (HP:0003577)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Adult onset (HP:0003581)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 (OMIM:300818)
Gene: PIGA
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Chest pain (HP:0100749)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Odynophagia (HP:0032043)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Acute aspiration pneumonia (HP:0011952)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Birth length greater than 97th percentile (HP:0003517)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Paroxysmal nocturnal hemoglobinuria (HP:0004818)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 (OMIM:300818)
Gene: PIGA
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: PIGA
Phenotype: Developmental regression (HP:0002376)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Headache (HP:0002315)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Papule (HP:0200034)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Neuronal loss in the cerebral cortex (HP:0007190)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Conjunctival icterus (HP:0032106)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Decreased circulating hepcidin concentration (HP:0031876)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)