TaoMedAI/RareMedData huggingface dataset:
Gene: BUD23
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Overfriendliness (HP:0100025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Anxiety (HP:0000739)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Depression (HP:0000716)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Autism (HP:0000717)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Elfin facies (HP:0004428)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Myopathy (HP:0003198)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypertension (HP:0000822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Osteopenia (HP:0000938)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Flat cornea (HP:0007720)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Narrow face (HP:0000275)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Arthralgia (HP:0002829)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Kyphosis (HP:0002808)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Redundant skin (HP:0001582)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Genu valgum (HP:0002857)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Dysphonia (HP:0001618)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EFHC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Abnormal emotional state (HP:0100851)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: EEG with generalized polyspikes (HP:0012001)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 (OMIM:607631)
Gene: EFHC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Myoclonus (HP:0001336)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 (OMIM:607631)
Gene: EFHC1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 (OMIM:607631)
Gene: EFHC1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)
Associated disease: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 (OMIM:607631)
Gene: EFHC1
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 (OMIM:607631)
Gene: EFHC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Bilateral tonic-clonic seizure on awakening (HP:0007193)
Associated disease: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 (OMIM:607631)
Gene: EFHC1
Phenotype: Anxiety (HP:0000739)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Gene: EFHC1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: EFHC1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: EFHC1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: JAE; Juvenile absence epilepsy (ORPHA:1941)
Gene: NLRP3
Phenotype: Chills (HP:0025143)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Epiphora (HP:0009926)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Meningitis (HP:0001287)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Meningitis (HP:0001287)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Seizure (HP:0001250)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Periodic fever (HP:0032323)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Arthritis (HP:0001369)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Arthritis (HP:0001369)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Arthritis (HP:0001369)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Arthritis (HP:0001369)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Arthritis (HP:0001369)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)