TaoMedAI/RareMedData huggingface dataset:
Gene: NEUROD2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 (OMIM:618374)
Gene: NEUROD2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 (OMIM:618374)
Gene: NEUROD2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 (OMIM:618374)
Gene: NEUROD2
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Astigmatism (HP:0000483)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 (OMIM:618374)
Gene: NEUROD2
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 (OMIM:618374)
Gene: NEUROD2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NEUROD2
Phenotype: Esotropia (HP:0000565)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 (OMIM:618374)
Gene: NEUROG1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Areflexia (HP:0001284)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Narrow palate (HP:0000189)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Insomnia (HP:0100785)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Absent internal auditory canal (HP:0011385)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Absent corneal reflex (HP:0034252)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Flat occiput (HP:0005469)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NEUROG1
Phenotype: Ptosis (HP:0000508)
Associated disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Gene: NF1
Phenotype: Large hands (HP:0001176)
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: Large hands (HP:0001176)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Nevus anemicus (HP:0025105)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Language impairment (HP:0002463)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Granuloma (HP:0032252)
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: Recurrent subcortical infarcts (HP:0007236)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Spina bifida (HP:0002414)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Stroke (HP:0001297)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Seizure (HP:0001250)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Seizure (HP:0001250)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Few cafe-au-lait spots (HP:0007429)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Brain imaging abnormality (HP:0410263)
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: Brain imaging abnormality (HP:0410263)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Multiple mucosal neuromas (HP:0031023)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
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: Hypsarrhythmia (HP:0002521)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Pilocytic astrocytoma (HP:0033680)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Bone cyst (HP:0012062)
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: Lipoma (HP:0012032)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Joint hypermobility (HP:0001382)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Macroorchidism (HP:0000053)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Atypical neurofibromatosis (HP:0007524)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Specific learning disability (HP:0001328)
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: Specific learning disability (HP:0001328)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)