TaoMedAI/RareMedData huggingface dataset:
Gene: BRAF
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Lentigo maligna melanoma (HP:0012059)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: BRAF
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Hypospadias (HP:0000047)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Hypospadias (HP:0000047)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: BRAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Bone pain (HP:0002653)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Scoliosis (HP:0002650)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Scoliosis (HP:0002650)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Scoliosis (HP:0002650)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Scoliosis (HP:0002650)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Open mouth (HP:0000194)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Cleft palate (HP:0000175)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Decreased fertility (HP:0000144)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Hypogonadism (HP:0000135)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Osteolysis (HP:0002797)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Freckling (HP:0001480)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Fistulous vegetative verrucous hydradenoma; Papillary syringocystadenoma; Naevus syringocystadenomatosus papilliferus; Syringocystadenoma papilliferum; SCAP; Syringadenoma papilliferum (ORPHA:840)
Gene: BRAF
Phenotype: Flushing (HP:0031284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Moon facies (HP:0500011)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BRAF
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: BRAF
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Constipation (HP:0002019)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Poor suck (HP:0002033)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Abnormal esophagus morphology (HP:0002031)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Deep philtrum (HP:0002002)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Dysphagia (HP:0002015)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Vomiting (HP:0002013)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Palpebral thickening (HP:0030939)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Palpebral thickening (HP:0030939)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Palpebral thickening (HP:0030939)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Multiple plantar creases (HP:0008113)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Bundle branch block (HP:0011710)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Pituitary corticotropic cell adenoma (HP:0008291)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Intracranial cystic lesion (HP:0010576)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Woolly hair (HP:0002224)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Amegakaryocytic thrombocytopenia (HP:0004859)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Curly hair (HP:0002212)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Curly hair (HP:0002212)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Curly hair (HP:0002212)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Fine hair (HP:0002213)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Fistulous vegetative verrucous hydradenoma; Papillary syringocystadenoma; Naevus syringocystadenomatosus papilliferus; Syringocystadenoma papilliferum; SCAP; Syringadenoma papilliferum (ORPHA:840)
Gene: BRAF
Phenotype: Coarse hair (HP:0002208)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Synovitis (HP:0100769)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Large earlobe (HP:0009748)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Large earlobe (HP:0009748)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Brittle hair (HP:0002299)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Paranoia (HP:0011999)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Reduced factor XIII activity (HP:0008357)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Reduced factor XII activity (HP:0004841)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Abnormal frontal bone morphology (HP:0430000)
Associated disease: Craniopharyngioma (ORPHA:54595)