TaoMedAI/RareMedData huggingface dataset:
Gene: PRKG2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Wormian bones (HP:0002645)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Short metatarsal (HP:0010743)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Broad thumb (HP:0011304)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Synophrys (HP:0000664)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Short stature (HP:0004322)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Mesomelia (HP:0003027)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Prominent sternum (HP:0000884)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Thoracic platyspondyly (HP:0004592)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Short finger (HP:0009381)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Genu valgum (HP:0002857)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Broad finger (HP:0001500)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Femoral bowing (HP:0002980)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Radial bowing (HP:0002986)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Triangular face (HP:0000325)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Triangular face (HP:0000325)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Genu varum (HP:0002970)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Pointed chin (HP:0000307)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Sandal gap (HP:0001852)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKG2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Broad toe (HP:0001837)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Short toe (HP:0001831)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Gene: PRKG2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Gene: PRKG2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKG2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Tapered finger (HP:0001182)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Language impairment (HP:0002463)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Seizure (HP:0001250)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Typically de novo (HP:0025352)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Coxa valga (HP:0002673)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Head-banging (HP:0012168)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MAPK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAPK1
Phenotype: Wide mouth (HP:0000154)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: NOONAN SYNDROME 13 (OMIM:619087)
Gene: MAPK1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAPK1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: MAPK1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)