TaoMedAI/RareMedData huggingface dataset:
Gene: FLNA
Phenotype: Sandal gap (HP:0001852)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Sandal gap (HP:0001852)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Proptosis (HP:0000520)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FLNA
Phenotype: Proptosis (HP:0000520)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Telecanthus (HP:0000506)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Ptosis (HP:0000508)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Ptosis (HP:0000508)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Long foot (HP:0001833)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Glaucoma (HP:0000501)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Short toe (HP:0001831)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Underdeveloped superior crus of antihelix (HP:0011246)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Prominent forehead (HP:0011220)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNB
Phenotype: Hand clenching (HP:0001188)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Sporadic (HP:0003745)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Short tubular bones of the hand (HP:0001248)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Poorly ossified vertebrae (HP:0100856)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Tombstone-shaped proximal phalanges (HP:0006060)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Bowed humerus (HP:0003865)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Clubbing (HP:0001217)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Absent humerus (HP:0003862)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Stillbirth (HP:0003826)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Neonatal death (HP:0003811)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Neonatal death (HP:0003811)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Joint dislocation (HP:0001373)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Platybasia (HP:0002691)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Severe short-limb dwarfism (HP:0008890)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Widened distal phalanges (HP:0006200)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Neonatal short-trunk short stature (HP:0008857)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Hypoplastic iliac body (HP:0008824)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Epiphyseal stippling of the humerus (HP:0003902)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Scoliosis (HP:0002650)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Scoliosis (HP:0002650)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Absent radius (HP:0003974)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Absent radius (HP:0003974)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Rhizomelia (HP:0008905)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Rhizomelia (HP:0008905)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Rhizomelia (HP:0008905)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Cleft palate (HP:0000175)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Cleft palate (HP:0000175)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Cleft palate (HP:0000175)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Cleft palate (HP:0000175)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Cleft palate (HP:0000175)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Cleft palate (HP:0000175)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Cleft palate (HP:0000175)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Failure of eruption of permanent teeth (HP:0006352)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Large joint dislocations (HP:0005008)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Renal cyst (HP:0000107)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Delayed toe phalanx ossification (HP:6000952)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Abnormal pancreatic duct morphology (HP:0030992)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Block vertebrae (HP:0003305)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Spondylolysis (HP:0003304)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Cervical segmentation defect (HP:0004632)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Encephalocele (HP:0002084)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Abnormal cervical curvature (HP:0005905)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Malrotation of colon (HP:0004785)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Horizontal sacrum (HP:0003440)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)