TaoMedAI/RareMedData huggingface dataset:
Gene: ASCL1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Strabismus (HP:0000486)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASL
Phenotype: Pili torti (HP:0003777)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Motor delay (HP:0001270)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Lethargy (HP:0001254)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Lethargy (HP:0001254)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Seizure (HP:0001250)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Seizure (HP:0001250)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Ataxia (HP:0001251)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Ataxia (HP:0001251)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Coma (HP:0001259)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hepatic failure (HP:0001399)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Cirrhosis (HP:0001394)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Increased circulating argininosuccinic acid (HP:0032491)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Increased circulating argininosuccinic acid (HP:0032491)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Dystonia (HP:0001332)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Specific learning disability (HP:0001328)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Tremor (HP:0001337)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Monilethrix (HP:0032470)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Chronic pancreatitis (HP:0006280)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Tachypnea (HP:0002789)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Diarrhea (HP:0002014)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Vomiting (HP:0002013)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Vomiting (HP:0002013)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Protein avoidance (HP:0002038)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Cerebral edema (HP:0002181)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Brittle hair (HP:0002299)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Drowsiness (HP:0002329)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Elevated CSF argininosuccinic acid concentration (HP:0034734)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Episodic ammonia intoxication (HP:0001951)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Respiratory alkalosis (HP:0001950)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Respiratory alkalosis (HP:0001950)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Dry hair (HP:0011359)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Carious teeth (HP:0000670)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Irritability (HP:0000737)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Self-mutilation (HP:0000742)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Psychosis (HP:0000709)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hypertension (HP:0000822)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Arrhythmia (HP:0011675)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Gene: ASL
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Hypokalemia (HP:0002900)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Argininosuccinic aciduria (HP:0025630)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: ASL
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: ASL deficiency; Argininosuccinic aciduria; ASA deficiency; Argininosuccinase deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinatelyase deficiency (ORPHA:23)
Gene: GET3
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Neonatal death (HP:0003811)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Tachypnea (HP:0002789)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Gene: GET3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: GET3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ASNS
Phenotype: Large hands (HP:0001176)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hypoasparaginemia (HP:0500157)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Clonic seizure (HP:0020221)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Simple ear (HP:0020206)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hypertonia (HP:0001276)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Seizure (HP:0001250)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hypotonia (HP:0001252)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)