TaoMedAI/RareMedData huggingface dataset:
Gene: MAPK10
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Irritability (HP:0000737)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Apathy (HP:0000741)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Psychosis (HP:0000709)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAP2K1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Sporadic (HP:0003745)
Associated disease: MELORHEOSTOSIS, ISOLATED (OMIM:155950)
Gene: MAP2K1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Seizure (HP:0001250)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Ataxia (HP:0001251)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Hypospadias (HP:0000047)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Bone pain (HP:0002653)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Melorheostosis (HP:6000817)
Associated disease: MELORHEOSTOSIS, ISOLATED (OMIM:155950)
Gene: MAP2K1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Cleft palate (HP:0000175)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Wide mouth (HP:0000154)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Heat intolerance (HP:0002046)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Woolly hair (HP:0002224)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Amegakaryocytic thrombocytopenia (HP:0004859)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Curly hair (HP:0002212)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Fine hair (HP:0002213)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Synovitis (HP:0100769)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Hyperostosis (HP:0100774)
Associated disease: MELORHEOSTOSIS, ISOLATED (OMIM:155950)
Gene: MAP2K1
Phenotype: Brittle hair (HP:0002299)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Reduced factor XIII activity (HP:0008357)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Reduced factor XII activity (HP:0004841)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Progressive (HP:0003676)
Associated disease: MELORHEOSTOSIS, ISOLATED (OMIM:155950)
Gene: MAP2K1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Lymphedema (HP:0001004)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Neurofibrosarcoma (HP:0100697)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Pulmonary Langerhans cell histiocytosis (HP:0034769)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Fever (HP:0001945)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Short stature (HP:0004322)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Short stature (HP:0004322)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Short stature (HP:0004322)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Cough (HP:0012735)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Short nose (HP:0003196)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Superior pectus carinatum (HP:0000917)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Shield chest (HP:0000914)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Pectus excavatum of inferior sternum (HP:0000915)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP2K1
Phenotype: Male infertility (HP:0003251)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAP2K1
Phenotype: Chylothorax (HP:0010310)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Gene: MAP2K1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Skin rash (HP:0000988)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: MAP2K1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Dry skin (HP:0000958)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: MAP2K1
Phenotype: Dry skin (HP:0000958)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: MAP2K1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP2K1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)