TaoMedAI/RareMedData huggingface dataset:
Gene: PTPN6
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Myalgia (HP:0003326)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Small vessel vasculitis (HP:0011944)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Acne (HP:0001061)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Skin nodule (HP:0200036)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Myositis (HP:0100614)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Pustule (HP:0200039)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Abnormal drug response (HP:0020169)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Chronic lymphatic leukemia (HP:0005550)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Anemia (HP:0001903)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Acne inversa (HP:0040154)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Arthralgia (HP:0002829)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Sterile abscess (HP:0025616)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Panniculitis (HP:0012490)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Abnormality of tumor necrosis factor secretion (HP:0011118)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Pain (HP:0012531)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN11
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Metachondromatosis (ORPHA:2499)
Gene: PTPN11
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
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: PTPN11
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Micropenis (HP:0000054)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Hypospadias (HP:0000047)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Hypospadias (HP:0000047)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Hypospadias (HP:0000047)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PTPN11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: PTPN11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Bone pain (HP:0002653)
Associated disease: Metachondromatosis (ORPHA:2499)
Gene: PTPN11
Phenotype: Scoliosis (HP:0002650)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Cleft palate (HP:0000175)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Cleft palate (HP:0000175)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Decreased fertility (HP:0000144)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Hypogonadism (HP:0000135)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Freckling (HP:0001480)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Multiple exostoses (HP:0002762)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: PTPN11
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
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: PTPN11
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Bundle branch block (HP:0011710)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Bundle branch block (HP:0011710)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Metachondromatosis (ORPHA:2499)
Gene: PTPN11
Phenotype: Aplasia of the ovary (HP:0010463)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Woolly hair (HP:0002224)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Amegakaryocytic thrombocytopenia (HP:0004859)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Coarse hair (HP:0002208)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Synovitis (HP:0100769)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Exostoses (HP:0100777)
Associated disease: Metachondromatosis (ORPHA:2499)
Gene: PTPN11
Phenotype: Reduced factor XIII activity (HP:0008357)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Reduced factor XII activity (HP:0004841)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Scapular winging (HP:0003691)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Scapular winging (HP:0003691)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Lymphedema (HP:0001004)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Lymphedema (HP:0001004)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Neurofibrosarcoma (HP:0100697)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PTPN11
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Metachondromatosis (ORPHA:2499)
Gene: PTPN11
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Nystagmus (HP:0000639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Blue irides (HP:0000635)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Multiple digital exostoses (HP:0005655)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Short stature (HP:0004322)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Short stature (HP:0004322)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Short stature (HP:0004322)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Short stature (HP:0004322)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)