TaoMedAI/RareMedData huggingface dataset:
Gene: MAP2K2
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Short stature (HP:0004322)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Short stature (HP:0004322)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Short stature (HP:0004322)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Short nose (HP:0003196)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Dry skin (HP:0000958)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Sparse hair (HP:0008070)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Epicanthus (HP:0000286)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Full cheeks (HP:0000293)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Narrow face (HP:0000275)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Long face (HP:0000276)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Long face (HP:0000276)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: High palate (HP:0000218)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Thickened helices (HP:0000391)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: High forehead (HP:0000348)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: High forehead (HP:0000348)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Premature birth (HP:0001622)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Macrotia (HP:0000400)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Strabismus (HP:0000486)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Strabismus (HP:0000486)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Short neck (HP:0000470)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Webbed neck (HP:0000465)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Webbed neck (HP:0000465)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Cataract (HP:0000518)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Telecanthus (HP:0000506)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Ptosis (HP:0000508)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Ptosis (HP:0000508)
Associated disease: Neurofibromatosis type 1-Noonan syndrome; NFNS; Neurofibromatosis-Noonan syndrome (ORPHA:638)
Gene: MAP2K2
Phenotype: Ptosis (HP:0000508)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K2
Phenotype: Myopia (HP:0000545)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Gene: MAP2K2
Phenotype: Myopia (HP:0000545)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: EIF2AK2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Hypertonia (HP:0001276)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Hypertonia (HP:0001276)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: EIF2AK2
Phenotype: Head titubation (HP:0002599)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: EIF2AK2
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Spasticity (HP:0001257)
Associated disease: DYSTONIA 33 (OMIM:619687)