TaoMedAI/RareMedData huggingface dataset:
Gene: SPRED1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Short stature (HP:0004322)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Short attention span (HP:0000736)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Diaphyseal dysplasia (HP:0100252)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Axillary freckling (HP:0000997)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Axillary freckling (HP:0000997)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Supravalvar pulmonary stenosis (HP:0034349)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Gastrointestinal desmoid tumor (HP:0100245)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Epicanthus (HP:0000286)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: High palate (HP:0000218)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Low-set ears (HP:0000369)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Triangular face (HP:0000325)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Paroxysmal atrial tachycardia (HP:0006671)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Short neck (HP:0000470)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Cataract (HP:0000518)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Ptosis (HP:0000508)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGS
Phenotype: Poor speech (HP:0002465)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Clonic seizure (HP:0020221)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Hyperglutamatemia (HP:0500149)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Stroke (HP:0001297)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Hypertonia (HP:0001276)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Confusion (HP:0001289)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Confusion (HP:0001289)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Lethargy (HP:0001254)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Lethargy (HP:0001254)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Seizure (HP:0001250)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Ataxia (HP:0001251)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Coma (HP:0001259)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Coma (HP:0001259)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Tachypnea (HP:0002789)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Delirium (HP:0031258)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Nausea (HP:0002018)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Diarrhea (HP:0002014)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Vomiting (HP:0002013)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Vomiting (HP:0002013)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Respiratory distress (HP:0002098)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Reduced hepatic N-acetylglutamate synthase activity (HP:6000161)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Hypothermia (HP:0002045)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Anorexia (HP:0002039)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Paraplegia (HP:0010550)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Echolalia (HP:0010529)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Acute hyperammonemia (HP:0008281)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Insomnia (HP:0100785)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Headache (HP:0002315)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Drowsiness (HP:0002329)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Alkalosis (HP:0001948)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Poor appetite (HP:0004396)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Anxiety (HP:0000739)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Emotional lability (HP:0000712)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Agitation (HP:0000713)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Gene: NAGS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Fatigue (HP:0012378)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: NAGS
Phenotype: Reye syndrome-like episodes (HP:0006582)
Associated disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Gene: TRPV3
Phenotype: Seizure (HP:0001250)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Skin fissure (HP:0031057)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Ankylosis (HP:0031013)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)