TaoMedAI/RareMedData huggingface dataset:
Gene: PHYH
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Pes cavus (HP:0001761)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Pes cavus (HP:0001761)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Cataract (HP:0000518)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Cataract (HP:0000518)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Ptosis (HP:0000508)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Ptosis (HP:0000508)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Visual impairment (HP:0000505)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SERPINA1
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Perinuclear antineutrophil antibody positivity (HP:0032229)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Increased sputum production (HP:0033709)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Emphysema (HP:0002097)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Dyspnea (HP:0002094)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Reduced circulating alpha-1-antitrypsin concentration (HP:0032025)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Reduced circulating alpha-1-antitrypsin concentration (HP:0032025)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Cough (HP:0012735)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Wheezing (HP:0030828)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Jaundice (HP:0000952)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Bronchitis (HP:0012387)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Gastric varix (HP:0030169)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Panacinar emphysema (HP:0032967)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Panniculitis (HP:0012490)
Associated disease: Alpha1-antitrypsin deficiency; Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency (ORPHA:60)
Gene: SERPINA1
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SERPINA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINA1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Gene: SERPINB6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
Gene: SERPINB6
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
Gene: SERPINB8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEELING SKIN SYNDROME 5 (OMIM:617115)
Gene: SERPINB8
Phenotype: Infantile onset (HP:0003593)
Associated disease: PEELING SKIN SYNDROME 5 (OMIM:617115)
Gene: SERPINB8
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PEELING SKIN SYNDROME 5 (OMIM:617115)
Gene: SERPINB8
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PEELING SKIN SYNDROME 5 (OMIM:617115)
Gene: SERPINB8
Phenotype: Scaling skin (HP:0040189)
Associated disease: PEELING SKIN SYNDROME 5 (OMIM:617115)
Gene: SERPINI1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Dysarthria (HP:0001260)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Myoclonus (HP:0001336)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Gliosis (HP:0002171)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Nystagmus (HP:0000639)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Diplopia (HP:0000651)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Eosinophilic neuronal inclusion bodies (HP:6001062)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Dementia (HP:0000726)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: SERPINI1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Gene: PIGA
Phenotype: Broad palm (HP:0001169)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Tapered finger (HP:0001182)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Fetal distress (HP:0025116)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Tetraplegia (HP:0002445)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: High anterior hairline (HP:0009890)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Poor head control (HP:0002421)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Stroke (HP:0001297)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Hypertonia (HP:0001276)
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 atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
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: Motor delay (HP:0001270)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Head titubation (HP:0002599)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Lethargy (HP:0001254)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Spasticity (HP:0001257)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Esophageal spasms (HP:0025271)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal pons morphology (HP:0007361)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
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: Inability to walk (HP:0002540)
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: Inability to walk (HP:0002540)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Increased CSF glutamate concentration (HP:0500200)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: PIGA
Phenotype: Hypsarrhythmia (HP:0002521)
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)