TaoMedAI/RareMedData huggingface dataset:
Gene: DSPP
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Infantile onset (HP:0003593)
Associated disease: DENTIN DYSPLASIA, TYPE II (OMIM:125420)
Gene: DSPP
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III (OMIM:125500)
Gene: DSPP
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Odontodysplasia (HP:0000694)
Associated disease: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III (OMIM:125500)
Gene: DSPP
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III (OMIM:125500)
Gene: DSPP
Phenotype: Periapical bone loss (HP:0000700)
Associated disease: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III (OMIM:125500)
Gene: DSPP
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III (OMIM:125500)
Gene: DSPP
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: DENTINOGENESIS IMPERFECTA 1 (OMIM:125490)
Gene: DSPP
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 (OMIM:605594)
Gene: DSPP
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: High-frequency hearing impairment (HP:0005101)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 (OMIM:605594)
Gene: DSPP
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Dentinogenesis imperfecta limited to primary teeth (HP:0011060)
Associated disease: DENTIN DYSPLASIA, TYPE II (OMIM:125420)
Gene: DSPP
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 (OMIM:605594)
Gene: DSPP
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SLC26A2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Hypertrophic auricular cartilage (HP:0008608)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Stiff ankle (HP:0025264)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Laryngeal cartilage malformation (HP:0008752)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Short femoral neck (HP:0100864)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Broad phalanx (HP:0006009)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Bifid humerus (HP:0003864)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Waddling gait (HP:0002515)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Stillbirth (HP:0003826)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Stillbirth (HP:0003826)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Hypoplasia of the femoral head (HP:0008802)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Moderately short stature (HP:0008848)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Delayed femoral head ossification (HP:0008829)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Double-layered patella (HP:0031174)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Double-layered patella (HP:0031174)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)