TaoMedAI/RareMedData huggingface dataset:
Gene: PTPN11
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Hyposmia (HP:0004409)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Metachondromatosis (ORPHA:2499)
Gene: PTPN11
Phenotype: Superior pectus carinatum (HP:0000917)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Shield chest (HP:0000914)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Pectus excavatum of inferior sternum (HP:0000915)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Missing ribs (HP:0000921)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PTPN11
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Male infertility (HP:0003251)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Chylothorax (HP:0010310)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Dry skin (HP:0000958)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Osteopenia (HP:0000938)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Metachondromatosis (ORPHA:2499)
Gene: PTPN11
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Epicanthus (HP:0000286)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Epicanthus (HP:0000286)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Parietal bossing (HP:0000242)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Brachycephaly (HP:0000248)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: PTPN11
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: High palate (HP:0000218)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: High palate (HP:0000218)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Melanoma (HP:0002861)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Growth delay (HP:0001510)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Thickened helices (HP:0000391)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Low-set ears (HP:0000369)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PTPN11
Phenotype: Broad forehead (HP:0000337)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: High forehead (HP:0000348)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Micrognathia (HP:0000347)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Micrognathia (HP:0000347)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Triangular face (HP:0000325)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Triangular face (HP:0000325)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Triangular face (HP:0000325)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Triangular face (HP:0000325)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PTPN11
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Strabismus (HP:0000486)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Strabismus (HP:0000486)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Short neck (HP:0000470)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Webbed neck (HP:0000465)
Associated disease: METACHONDROMATOSIS (OMIM:156250)
Gene: PTPN11
Phenotype: Webbed neck (HP:0000465)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Webbed neck (HP:0000465)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Protruding ear (HP:0000411)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PTPN11
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Proptosis (HP:0000520)
Associated disease: Noonan syndrome (ORPHA:648)