TaoMedAI/RareMedData huggingface dataset:
Gene: NF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: NF1
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Osteolysis (HP:0002797)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Freckling (HP:0001480)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Freckling (HP:0001480)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Freckling (HP:0001480)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Hydronephrosis (HP:0000126)
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: Typified by somatic mosaicism (HP:0001442)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: NF1
Phenotype: Kyphoscoliosis (HP:0002751)
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: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Hyperlordosis (HP:0003307)
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: Bifid nose (HP:0011803)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Abnormal lung morphology (HP:0002088)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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: Migraine (HP:0002076)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Prominent glabella (HP:0002057)
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: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Astrocytoma (HP:0009592)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Congenital onset (HP:0003577)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Glioma (HP:0009733)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Glioma (HP:0009733)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Plexiform neurofibroma (HP:0009732)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Plexiform neurofibroma (HP:0009732)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Plexiform neurofibroma (HP:0009732)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Plexiform neurofibroma (HP:0009732)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Spinal neurofibroma (HP:0009735)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Spinal neurofibroma (HP:0009735)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Spinal neurofibroma (HP:0009735)
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: Optic nerve glioma (HP:0009734)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Optic nerve glioma (HP:0009734)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Optic nerve glioma (HP:0009734)
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: Optic nerve glioma (HP:0009734)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Lisch nodules (HP:0009737)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Lisch nodules (HP:0009737)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Lisch nodules (HP:0009737)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Lisch nodules (HP:0009737)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Lisch nodules (HP:0009737)
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: Lisch nodules (HP:0009737)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Tibial pseudarthrosis (HP:0009736)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
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: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Abnormality of the sphenoid sinus (HP:0430022)
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: Abnormality of the sphenoid sinus (HP:0430022)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Lower limb dysmetria (HP:0020035)
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: Paraparesis (HP:0002385)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hemangioma (HP:0001028)
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: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Memory impairment (HP:0002354)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Headache (HP:0002315)
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: Headache (HP:0002315)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Papule (HP:0200034)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Thickened skin (HP:0001072)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Brainstem glioma (HP:0010796)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Cerebellar glioma (HP:0010795)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Cerebellar glioma (HP:0010795)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
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: Neurofibrosarcoma (HP:0100697)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Neurofibrosarcoma (HP:0100697)
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: Neurofibrosarcoma (HP:0100697)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Subcutaneous neurofibroma (HP:0100698)
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: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NF1
Phenotype: Symmetric spinal nerve root neurofibromas (HP:0006851)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Speech articulation difficulties (HP:0009088)
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: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Blindness (HP:0000618)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypotelorism (HP:0000601)
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: Leukemia (HP:0001909)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)