TaoMedAI/RareMedData huggingface dataset:
Gene: FLNB
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Congenital onset (HP:0003577)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Laryngotracheal stenosis (HP:0004894)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Severe short stature (HP:0003510)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Scapular winging (HP:0003691)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: C2-C3 subluxation (HP:0008456)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Short metatarsal (HP:0010743)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Short metatarsal (HP:0010743)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Ankle dislocation (HP:6001057)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Microdontia (HP:0000691)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Broad thumb (HP:0011304)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Short stature (HP:0004322)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Short stature (HP:0004322)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Short long bone (HP:0003026)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Abnormal ossification involving the femoral head and neck (HP:0009107)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Narrow chest (HP:0000774)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Narrow chest (HP:0000774)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Narrow chest (HP:0000774)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Short tibia (HP:0005736)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Short nose (HP:0003196)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Short nose (HP:0003196)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Short humerus (HP:0005792)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Long clavicles (HP:0000890)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Short femur (HP:0003097)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Short femur (HP:0003097)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Absent or minimally ossified vertebral bodies (HP:0004599)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Thoracic platyspondyly (HP:0004592)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Short finger (HP:0009381)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Broad face (HP:0000283)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Malar flattening (HP:0000272)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Malar flattening (HP:0000272)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Malar flattening (HP:0000272)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Prominent occiput (HP:0000269)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Hypoplastic nasal septum (HP:0005104)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Club-shaped proximal femur (HP:0006406)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Distal tapering femur (HP:0006408)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Distal tapering femur (HP:0006408)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Club-shaped distal femur (HP:0006384)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: High palate (HP:0000218)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Omphalocele (HP:0001539)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Flat face (HP:0012368)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)