TaoMedAI/RareMedData huggingface dataset:
Gene: MAPK1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Lymphedema (HP:0001004)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Branchial fistula (HP:0009795)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Short palm (HP:0004279)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Blue irides (HP:0000635)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Microdontia (HP:0000691)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Short stature (HP:0004322)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Tics (HP:0100033)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Anxiety (HP:0000739)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Depression (HP:0000716)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Dry skin (HP:0000958)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Long face (HP:0000276)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: High palate (HP:0000218)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Growth delay (HP:0001510)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: High forehead (HP:0000348)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Premature birth (HP:0001622)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Pointed chin (HP:0000307)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Pes planus (HP:0001763)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Pes planus (HP:0001763)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Sandal gap (HP:0001852)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Absent toenail (HP:0001802)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK10
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Falls (HP:0002527)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Personality disorder (HP:0012075)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Myoclonus (HP:0001336)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Vertigo (HP:0002321)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: MAPK10
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)