TaoMedAI/RareMedData huggingface dataset:
Gene: NF1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Short stature (HP:0004322)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Short stature (HP:0004322)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Short stature (HP:0004322)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Short stature (HP:0004322)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Short stature (HP:0004322)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Short stature (HP:0004322)
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 stature (HP:0004322)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Colon cancer (HP:0003003)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Glomus jugular tumor (HP:0003001)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Sphenoid wing dysplasia (HP:6001124)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Schwannoma (HP:0100008)
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: Schwannoma (HP:0100008)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Proportionate tall stature (HP:0011407)
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: Macule (HP:0012733)
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: Pectus excavatum (HP:0000767)
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: Pectus excavatum (HP:0000767)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Short attention span (HP:0000736)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Neurodevelopmental delay (HP:0012758)
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: Reduced social responsiveness (HP:0012760)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Deviated nasal septum (HP:0004411)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Superior pectus carinatum (HP:0000917)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Pectus excavatum of inferior sternum (HP:0000915)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Abnormality of the skeletal system (HP:0000924)
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: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NF1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypertension (HP:0000822)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Hypertension (HP:0000822)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Beaking of vertebral bodies T12-L3 (HP:0004562)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Diaphyseal dysplasia (HP:0100252)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Axillary freckling (HP:0000997)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Axillary freckling (HP:0000997)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Axillary freckling (HP:0000997)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Axillary freckling (HP:0000997)
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: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Cafe-au-lait spot (HP:0000957)
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: Cafe-au-lait spot (HP:0000957)
Associated disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Gene: NF1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Osteopenia (HP:0000938)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Epicanthus (HP:0000286)
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: Epicanthus (HP:0000286)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Coarse facial features (HP:0000280)
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: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Macrocephaly (HP:0000256)
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: Macrocephaly (HP:0000256)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Long face (HP:0000276)
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 face (HP:0000271)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Malar flattening (HP:0000272)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Malar flattening (HP:0000272)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Abnormal dental pulp morphology (HP:0006479)
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: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Kyphosis (HP:0002808)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Hydrocephalus (HP:0000238)
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: Hydrocephalus (HP:0000238)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Sinusitis (HP:0000246)
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: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: NF1
Phenotype: Abnormal renal morphology (HP:0012210)
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: Overgrowth (HP:0001548)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: High palate (HP:0000218)
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: Thin vermilion border (HP:0000233)
Associated disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Trisomy 17q11.2; Grisart-Destrée syndrome (ORPHA:139474)
Gene: NF1
Phenotype: Meningioma (HP:0002858)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Genu valgum (HP:0002857)
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: Genu valgum (HP:0002857)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Medullary thyroid carcinoma (HP:0002865)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NF1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Inguinal freckling (HP:0030052)
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: Intrauterine growth retardation (HP:0001511)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Retinal vascular proliferation (HP:0007850)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NF1
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: NF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NF1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: NF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NF1 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; Neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome (ORPHA:97685)
Gene: NF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: WATSON SYNDROME (OMIM:193520)
Gene: NF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Gene: NF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Gene: NF1
Phenotype: Narrow forehead (HP:0000341)
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 philtrum (HP:0000343)
Associated disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)