TaoMedAI/RareMedData huggingface dataset:
Gene: MAP2K1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Long face (HP:0000276)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: High palate (HP:0000218)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: High palate (HP:0000218)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Growth delay (HP:0001510)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Thickened helices (HP:0000391)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: MELORHEOSTOSIS, ISOLATED (OMIM:155950)
Gene: MAP2K1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Broad forehead (HP:0000337)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: High forehead (HP:0000348)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Triangular face (HP:0000325)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Premature birth (HP:0001622)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Macrotia (HP:0000400)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Strabismus (HP:0000486)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Short neck (HP:0000470)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Short neck (HP:0000470)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Webbed neck (HP:0000465)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Weight loss (HP:0001824)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Ptosis (HP:0000508)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Myopia (HP:0000545)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Myopia (HP:0000545)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K2
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Heat intolerance (HP:0002046)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Curly hair (HP:0002212)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Fine hair (HP:0002213)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Brittle hair (HP:0002299)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Hemangioma (HP:0001028)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Lymphedema (HP:0001004)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)