Osteomesopyknosis |
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Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... |
ORPHA:2777 |
Regional Odontodysplasia |
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Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... |
ORPHA:83450 |
Amelogenesis Imperfecta |
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Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... |
ORPHA:88661 |
Dentin Dysplasia, Type I |
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Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... |
OMIM:125400 |
Pyle Disease |
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Reduced bone mineral density, Delayed eruption of teeth, Scoliosis, Mandibular prognathia, Hypopl... |
OMIM:265900 |
Florid Cemento-Osseous Dysplasia |
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Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... |
ORPHA:83451 |
Primary Basilar Invagination |
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Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine |
ORPHA:2285 |
Endosteal Hyperostosis, Worth Type |
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Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bone morphology, Craniofacial h... |
ORPHA:2790 |
Endosteal Hyperostosis, Autosomal Dominant |
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Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... |
OMIM:144750 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Abnormal vertebral morphology, Micrognathia, Cleft palate, Short neck, Thin upper lip vermilion |
ORPHA:2015 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
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Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization |
OMIM:613211 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
Dentin Dysplasia |
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Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
Dental Anomalies And Short Stature |
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Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Scoliosis, Mandibul... |
OMIM:601216 |
Amelogenesis Imperfecta, Type Ij |
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Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... |
OMIM:617297 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
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Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204700 |
Oligodontia |
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Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... |
ORPHA:99798 |
Amelogenesis Imperfecta, Type Ia |
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Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia |
OMIM:104530 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Short philtrum, Delayed eruption of teeth, Osteoporosis, Dentinogenesis imperfecta, Platyspondyly |
ORPHA:71267 |
Maxillonasal Dysplasia, Binder Type |
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Dental malocclusion, Patchy distortion of vertebrae, Vertebral clefting |
OMIM:155050 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Reduced bone mineral density, Scoliosis, Hyperlordosis, Abnormality of the dentition, Carious teeth |
ORPHA:2501 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
Dentin Dysplasia, Type Ii |
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Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Thin vermilion border, Short philtrum, Premature loss of teeth, Multiple small vertebral fracture... |
OMIM:156510 |
Amelogenesis Imperfecta, Type Ic |
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Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Iiia |
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Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
Greenberg Dysplasia |
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Abnormal bone ossification, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificat... |
ORPHA:1426 |
Amelogenesis Imperfecta, Type Ih |
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Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:616221 |
Dentinogenesis Imperfecta |
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Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... |
ORPHA:49042 |
Dentin Dysplasia With Sclerotic Bones |
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Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Kyphoscoliosis, Amelogenesis imperfecta, Scoliosis, Hyperlordosis, High palate, Mandibular progna... |
OMIM:618363 |
Hall-Riggs Syndrome |
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Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Scolios... |
OMIM:234250 |
Otodental Dysplasia |
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Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
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Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
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Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
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Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization |
OMIM:614832 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
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Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type If |
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Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
Flynn-Aird Syndrome |
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Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Carious teeth, Increased bone densi... |
OMIM:136300 |
Weismann-Netter Syndrome |
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Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyphosis, Delayed eruption of permanent teeth |
OMIM:112350 |
Amelogenesis Imperfecta, Type Ie |
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Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Short neck, Hemivertebrae, Vertebral clefting, Vertebral segmentation defect |
OMIM:608681 |
Amelogenesis Imperfecta, Type Iv |
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Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia |
OMIM:104510 |
Calvarial Doughnut Lesions With Bone Fragility |
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Osteopenia, Scoliosis, Osteoporosis, Carious teeth, Platyspondyly |
OMIM:126550 |
Intermediate Osteopetrosis |
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Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Cortical sclerosis,... |
ORPHA:210110 |
Acrodysplasia Scoliosis |
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Scoliosis, Vertebral segmentation defect, Spina bifida occulta |
ORPHA:2956 |
Pycnodysostosis |
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Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Increased bone mineral d... |
OMIM:265800 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Abnormal palate morphology, Reduced bone mineral density, Scoliosis, Vertebral segmentation defec... |
ORPHA:2617 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Abnormal vertebral morphology, Cervical instability, Delayed ossification of carpal bones, Glosso... |
ORPHA:93346 |
Otodental Syndrome |
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Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... |
ORPHA:2791 |
Tricho-Dento-Osseous Syndrome |
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Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... |
ORPHA:3352 |
Mucopolysaccharidosis, Type Iva |
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Grayish enamel, Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Widely spaced teeth, Kerat... |
OMIM:253000 |
Dysosteosclerosis |
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Craniofacial hyperostosis, Delayed eruption of teeth, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Osteopenia, Supernumerary tooth, Agenesis of molar, Hypospadias, Bicoronal synostosis, Scoliosis,... |
OMIM:619718 |
Amelo-Onycho-Hypohidrotic Syndrome |
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Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... |
ORPHA:1028 |
Mucopolysaccharidosis Type 4 |
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Grayish enamel, Reduced bone mineral density, Abnormal dental enamel morphology, Scoliosis, Hyper... |
ORPHA:582 |
Cleft Lip/Palate |
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Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... |
ORPHA:199306 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
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Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth |
ORPHA:3196 |
Dysostosis, Stanescu Type |
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Abnormal palate morphology, Increased bone mineral density, Abnormal dental enamel morphology, Sc... |
ORPHA:1798 |
Shaheen Syndrome |
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Enamel hypoplasia, Carious teeth |
OMIM:615328 |
Craniolenticulosutural Dysplasia |
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Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, Scoliosis, High palate... |
ORPHA:50814 |
Craniometadiaphyseal Dysplasia |
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Osteopenia, Dental crowding, Scoliosis, Mandibular prognathia, High palate, Microdontia, Carious ... |
OMIM:269300 |
Dentinogenesis Imperfecta 1 |
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Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta |
OMIM:125490 |
Van Der Woude Syndrome 2 |
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Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit |
OMIM:606713 |
Orofaciodigital Syndrome Type 5 |
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Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... |
ORPHA:2919 |
Hypophosphatasia, Adult |
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Rickets, Carious teeth, Premature loss of primary teeth, Osteomalacia, Premature loss of permanen... |
OMIM:146300 |
Pycnodysostosis |
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Spondylolysis, Spondylolisthesis, Hyperlordosis, Kyphosis, Delayed eruption of primary teeth, Inc... |
ORPHA:763 |
Sacral Agenesis With Vertebral Anomalies |
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Abnormal vertebral morphology, Unilateral renal agenesis, Persistent cloaca, Vertebral clefting, ... |
OMIM:615709 |
Mucopolysaccharidosis, Type Ivb |
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Grayish enamel, Widely spaced teeth, Keratan sulfate excretion in urine, Scoliosis, Hyperlordosis... |
OMIM:253010 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
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Hypophosphatemic rickets, Medullary nephrocalcinosis, Hypoplasia of teeth, Hyperphosphaturia, Car... |
OMIM:613312 |
Impacted Teeth, Multiple |
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Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Vacterl Association With Hydrocephalus |
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Renal hypoplasia, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral c... |
OMIM:276950 |
Amelogenesis Imperfecta, Type Ig |
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Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, G... |
OMIM:204690 |
Enamel-Renal Syndrome |
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Amelogenesis imperfecta, Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability... |
ORPHA:1031 |
Amelocerebrohypohidrotic Syndrome |
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Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... |
ORPHA:1946 |
Jalili Syndrome |
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Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color |
ORPHA:1873 |
Odontomicronychial Dysplasia |
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Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... |
ORPHA:1811 |
Familial Osteodysplasia, Anderson Type |
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Abnormal zygomatic bone morphology, Abnormal cortical bone morphology, Tooth malposition, Abnorma... |
ORPHA:2769 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Increased renal tubular phosphate reabsorption, Subperiosteal bone formation, Hyperostosis, Ename... |
OMIM:211900 |
Craniolenticulosutural Dysplasia |
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Osteopenia, Delayed eruption of teeth, Scoliosis, High palate, Carious teeth, Hypoplasia of teeth... |
OMIM:607812 |
Branchioskeletogenital Syndrome |
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Ureteral stenosis, Bifid uvula, Craniosynostosis, Abnormality of the vertebral spinous processes,... |
ORPHA:1299 |
Camurati-Engelmann Disease |
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Diaphyseal sclerosis, Increased bone mineral density, Scoliosis, Mandibular prognathia, Cortical ... |
OMIM:131300 |
Aspartylglucosaminuria |
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Beaking of vertebral bodies, Abnormal vertebral morphology, Anterior beaking of lumbar vertebrae,... |
ORPHA:93 |