Osteomesopyknosis |
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Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Regional Odontodysplasia |
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Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Pyle Disease |
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Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Florid Cemento-Osseous Dysplasia |
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Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Dentin Dysplasia, Type I |
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Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Endosteal Hyperostosis, Worth Type |
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Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Endosteal Hyperostosis, Autosomal Dominant |
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Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
Primary Basilar Invagination |
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Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Amelogenesis Imperfecta, Type Ij |
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Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Thin upper lip vermilion, Micrognathia, Short neck, Cleft palate, Abnormal vertebral morphology |
ORPHA:2015 |
Dental Anomalies And Short Stature |
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Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
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Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Dentin Dysplasia |
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Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Oligodontia |
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Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Hyperlordosis, Carious teeth, Abnormality of the dentition, Reduced bone mineral density, Scoliosis |
ORPHA:2501 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
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Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Maxillonasal Dysplasia, Binder Type |
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Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion |
OMIM:155050 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Delayed eruption of teeth, Osteoporosis, Platyspondyly, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Amelogenesis Imperfecta, Type Ia |
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Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Mandibular prognathia, Microretrognathia, Kyphoscoliosis, Hyperlordosis, Micrognathia, Carious te... |
OMIM:618363 |
Dentinogenesis Imperfecta |
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Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Otodental Dysplasia |
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Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Dentin Dysplasia, Type Ii |
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Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Type Ic |
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Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Iiia |
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Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Amelogenesis Imperfecta, Type Ih |
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Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Flynn-Aird Syndrome |
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Increased bone mineral density, Kyphoscoliosis, Carious teeth, Osteoporosis, Increased bone densi... |
OMIM:136300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
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Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
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Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Calvarial Doughnut Lesions With Bone Fragility |
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Osteopenia, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Pycnodysostosis |
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Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... |
OMIM:265800 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
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Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
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Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Type If |
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Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Micrognathia, Open bite, Kyphosis, Carious teeth, Reduced bone mineral density, Vertebral segment... |
ORPHA:2617 |
Amelogenesis Imperfecta, Type Iv |
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Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Type Ie |
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Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Otodental Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Abnormally ossified vertebrae, Micrognathia, Carious teeth, Glossoptosis, Platyspondyly, Delayed ... |
ORPHA:93346 |
Dysosteosclerosis |
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Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
Mucopolysaccharidosis, Type Iva |
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Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odont... |
OMIM:253000 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Osteopenia, Hypospadias, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Osteoporosis... |
OMIM:619718 |
Sacral Agenesis With Vertebral Anomalies |
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Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... |
OMIM:615709 |
Amelo-Onycho-Hypohidrotic Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Vacterl Association With Hydrocephalus |
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Radial club hand, Renal hypoplasia, Stillbirth, Abnormality of the vertebral column, Abnormal ver... |
OMIM:276950 |
Mucopolysaccharidosis Type 4 |
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Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Abnormali... |
ORPHA:582 |
Dysostosis, Stanescu Type |
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Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyp... |
ORPHA:1798 |
Craniolenticulosutural Dysplasia |
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Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
Craniometadiaphyseal Dysplasia |
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Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Sclerosis of skul... |
OMIM:269300 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
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Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Pycnodysostosis |
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Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Orofaciodigital Syndrome Type 5 |
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Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Hypophosphatasia, Adult |
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Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Carious teeth, ... |
OMIM:146300 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
Mucopolysaccharidosis, Type Ivb |
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Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the o... |
OMIM:253010 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
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Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Medullary nephro... |
OMIM:613312 |
Van Der Woude Syndrome 2 |
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Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Dentinogenesis Imperfecta 1 |
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Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Abnormal... |
ORPHA:3109 |
Enamel-Renal Syndrome |
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Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
Amelogenesis Imperfecta, Type Ig |
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Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Familial Osteodysplasia, Anderson Type |
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Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Kyphosis, Abnormal ... |
ORPHA:2769 |
Odontomicronychial Dysplasia |
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Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Branchioskeletogenital Syndrome |
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Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Downturned corners of mouth, Short ... |
ORPHA:1299 |
Aspartylglucosaminuria |
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Mandibular prognathia, Aspartylglucosaminuria, Abnormality of the dentition, Carious teeth, Gingi... |
ORPHA:93 |