TaoMedAI/RareMedData huggingface dataset:
Gene: NF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NF1
Phenotype: Broad forehead (HP:0000337)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NF1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Cerebral artery stenosis (HP:0012492)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Pericarditis (HP:0001701)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Strabismus (HP:0000486)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Broad neck (HP:0000475)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Short neck (HP:0000470)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Webbed neck (HP:0000465)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Webbed neck (HP:0000465)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Webbed neck (HP:0000465)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Embryonal rhabdomyosarcoma (HP:0006743)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Ossifying fibroma (HP:0030426)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Abnormal internal carotid artery morphology (HP:3000062)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NF1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Proptosis (HP:0000520)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Ptosis (HP:0000508)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Long foot (HP:0001833)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Gene: NF1
Phenotype: Long foot (HP:0001833)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Glaucoma (HP:0000501)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Glaucoma (HP:0000501)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Pain (HP:0012531)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF2
Phenotype: Hyperesthesia (HP:0100963)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Seizure (HP:0001250)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Seizure (HP:0001250)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Seizure (HP:0001250)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Ataxia (HP:0001251)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Lumbosacral hemangioma (HP:0410275)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: NF2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Lipoma (HP:0012032)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Wrist drop (HP:0031189)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: NF2
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Optic nerve sheath meningioma (HP:0500089)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Myelopathy (HP:0002196)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)