TaoMedAI/RareMedData huggingface dataset:
Gene: AFF2
Phenotype: Stereotypical body rocking (HP:0012172)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Stereotypical body rocking (HP:0012172)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Impulsivity (HP:0100710)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Poor coordination (HP:0002370)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Clumsiness (HP:0002312)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Long upper lip (HP:0011341)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Short stature (HP:0004322)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Agitation (HP:0000713)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Agitation (HP:0000713)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: FN1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Underfolded helix (HP:0008577)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Abnormal antitragus morphology (HP:0009896)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Increased urinary type 1 collagen N-terminal telopeptide level (HP:0032208)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Proteinuria (HP:0000093)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Corner fracture of metaphysis (HP:0003908)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Corner fracture of metaphysis (HP:0003908)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Biconvex vertebral bodies (HP:0004625)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Glomerular deposits (HP:0030949)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Hyperconvex vertebral body endplates (HP:0004603)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Glomerular fibronectin deposits (HP:6000428)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Pedal edema (HP:0010741)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Limb pain (HP:0009763)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Abnormal glomerular mesangium morphology (HP:0001966)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Short stature (HP:0004322)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Short long bone (HP:0003026)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Hypertension (HP:0000822)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Hypertension (HP:0000822)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Coxa vara (HP:0002812)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Short lower limbs (HP:0006385)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: High palate (HP:0000218)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)