TaoMedAI/RareMedData huggingface dataset:
Gene: IGF1R
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Narrow mouth (HP:0000160)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Congenital onset (HP:0003577)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Severe short stature (HP:0003510)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Small hand (HP:0200055)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Short palm (HP:0004279)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Truncal obesity (HP:0001956)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Synophrys (HP:0000664)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Decreased body weight (HP:0004325)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Short stature (HP:0004322)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Short stature (HP:0004322)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Anxiety (HP:0000739)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Agitation (HP:0000713)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Short finger (HP:0009381)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Retrognathia (HP:0000278)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Clinodactyly (HP:0030084)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Microcephaly (HP:0000252)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Microcephaly (HP:0000252)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: High palate (HP:0000218)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Growth delay (HP:0001510)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Growth delay (HP:0001510)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Low-set ears (HP:0000369)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Long philtrum (HP:0000343)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Micrognathia (HP:0000347)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Triangular face (HP:0000325)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Strabismus (HP:0000486)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Webbed neck (HP:0000465)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Short foot (HP:0001773)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Gene: IGF1R
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Sandal gap (HP:0001852)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1R
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Gene: IGF1R
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1R
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2
Phenotype: Syndactyly (HP:0001159)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Syndactyly (HP:0001159)
Associated disease: SILVER-RUSSELL SYNDROME 3 (OMIM:616489)
Gene: IGF2
Phenotype: Syndactyly (HP:0001159)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: IGF2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: IGF2
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Sporadic (HP:0003745)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2
Phenotype: Motor delay (HP:0001270)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: IGF2
Phenotype: Motor delay (HP:0001270)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: IGF2
Phenotype: Motor delay (HP:0001270)
Associated disease: SILVER-RUSSELL SYNDROME 3 (OMIM:616489)
Gene: IGF2
Phenotype: Motor delay (HP:0001270)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: IGF2
Phenotype: Seizure (HP:0001250)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: IGF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SILVER-RUSSELL SYNDROME 3 (OMIM:616489)
Gene: IGF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: IGF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SILVER-RUSSELL SYNDROME 3 (OMIM:616489)
Gene: IGF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: SILVER-RUSSELL SYNDROME 3 (OMIM:616489)
Gene: IGF2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: IGF2
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Hypospadias (HP:0000047)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: IGF2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: IGF2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: IGF2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: IGF2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: IGF2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SILVER-RUSSELL SYNDROME 3 (OMIM:616489)
Gene: IGF2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: IGF2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: IGF2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: IGF2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)