Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia |
ORPHA:2668 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... |
OMIM:617994 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia |
ORPHA:99879 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypopl... |
ORPHA:557003 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Hypophosphatasia |
|
Abnormality of the dentition, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Carious teeth, Hypocalcemic tetany, Cal... |
ORPHA:93324 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Osteomalacia, Tooth abscess, Rickets |
ORPHA:89937 |
Infantile Myofibromatosis |
|
Bone cyst, Osteolysis, Gingival fibromatosis, Hypercalcemia |
ORPHA:2591 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Paget Disease Of Bone 2, Early-Onset |
|
Premature loss of teeth, Sclerosis of skull base, Osteolysis, Hypercalcemia, Osteosclerosis of th... |
OMIM:602080 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets |
OMIM:612089 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Abnormality of... |
OMIM:241500 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Fibrous dysplasia of the bones, Irregularly spaced teeth, Abnormal facial skele... |
ORPHA:249 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Pyle Disease |
|
Reduced bone mineral density, Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinus... |
OMIM:265900 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormality of the dentition, Osteomalacia, Premature ... |
ORPHA:93160 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, En... |
ORPHA:94089 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Tooth malposition, Osteopenia, Micrognathia, Hypercalcemia |
OMIM:156400 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Fibrous dysplasia of the bones, Periapical tooth abscess, Abnormality of the de... |
ORPHA:437 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia, Thick lower lip vermilion |
OMIM:143880 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Increased blood urea nitrogen, Hypercalcemia, Craniosynostosis |
ORPHA:251004 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Osteomalacia, Hypocalcemia |
OMIM:179800 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Microdontia, Widely spaced... |
ORPHA:3352 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Eruption failure, Abnormality of the dentition, Micrognathia, Long philtrum, Hyperca... |
ORPHA:476126 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hy... |
ORPHA:405 |
Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Hypocalcemia, Abnormality of the dentition, Carious teeth, Generalized ... |
ORPHA:53 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Carious teeth, Calvarial osteosclerosis, Decreased skull ossification |
OMIM:244460 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Oculoskeletodental Syndrome |
|
Macroglossia, Oligodontia, Hypocalcemia, Hypercalcemia |
OMIM:618440 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Thin vermilion border, Patchy osteosclerosis, Micrognathia, Long philtrum, Bifid uv... |
OMIM:241410 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Osteomal... |
ORPHA:289157 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth |
OMIM:226650 |
Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia |
ORPHA:97289 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Premature loss of teeth, High, narrow palate, Malar flattening, Craniosynostosis, Osteopenia, Mic... |
ORPHA:369837 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Pulp calcification, Enamel hypoplasia, Hyperphosphatemia, Hyperostosis, Subperiostea... |
OMIM:211900 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Ring Chromosome 10 Syndrome |
|
Thin vermilion border, Micrognathia, Hypocalcemia, Long philtrum |
ORPHA:1438 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... |
ORPHA:36913 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Thin vermilion border, Patchy osteosclerosis, Abnormality of the dentition, Microgn... |
ORPHA:2323 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Carious teeth, Cal... |
OMIM:259700 |
Timothy Syndrome |
|
Thin upper lip vermilion, Hypocalcemia, Microdontia |
OMIM:601005 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Hypercalcemia |
OMIM:239200 |
Mastocytosis |
|
Osteoporosis, Hypercalcemia |
ORPHA:98292 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Hypophosphatasia, Adult |
|
Premature loss of primary teeth, Osteomalacia, Premature loss of permanent teeth, Carious teeth, ... |
OMIM:146300 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Mandibular pain, Hypophosphatemia, Osteoporosis, Hypercalcemia, Infantile hypercalcemia |
ORPHA:99880 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Generalized bone demineralization, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
Parathyroid Carcinoma |
|
Mandibular pain, Hypophosphatemia, Osteoporosis, Hypercalcemia, Infantile hypercalcemia |
ORPHA:143 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia |
ORPHA:398063 |
Monosomy 13Q34 |
|
Infantile hypercalcemia, Micrognathia |
ORPHA:96168 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... |
OMIM:103580 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... |
ORPHA:1946 |
Jalili Syndrome |
|
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color |
ORPHA:1873 |
Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Increased bone mineral density, Hypodontia, Microgna... |
OMIM:265800 |
Multiple Myeloma |
|
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia |
ORPHA:29073 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Osteopenia, Increased circulating renin level, Hypercalcemia, Increa... |
OMIM:601678 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypoplasia of teeth, Hypophosphatemic rickets, Carious teeth |
OMIM:613312 |
Acute Adrenal Insufficiency |
|
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia |
ORPHA:95409 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Glossitis, Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Gracile Bone Dysplasia |
|
Ankyloglossia, Hypocalcemia, Decreased skull ossification |
OMIM:602361 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Alveolar ridge overgrowth, Hypocalcemia, Cleft palate, Hypoproteinemia, Malar flatte... |
OMIM:235255 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Delayed eruption of teeth, En... |
ORPHA:79444 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Tented upper lip vermilion |
OMIM:606407 |
Addison Disease |
|
Increased circulating renin level, Generalized bone demineralization, Hyponatremia, Hyperuricemia... |
ORPHA:85138 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Diaphyseal sclerosis, Persistence of primary teeth, Osteopetrosis, Cari... |
OMIM:259710 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Hypocalcemia |
OMIM:618476 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Osteopetrosis, Autosomal Recessive 5 |
|
Gingival overgrowth, Hypocalcemia, Increased bone mineral density, Decreased osteoclast count, Hy... |
OMIM:259720 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossification,... |
ORPHA:79443 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Sinusitis, Hypocalcemia |
ORPHA:47 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Osteoporosis, Enamel hypoplasia, Stomatitis, Recurrent aphthous stomatitis, Rickets |
OMIM:212750 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... |
OMIM:104570 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Increased bone mineral density, Hyperphosphatemia, Transient hypophosphatemia, Thic... |
OMIM:127000 |
Williams Syndrome |
|
Wide mouth, Osteopenia, Microdontia, Carious teeth, Thick lower lip vermilion, Increased bone min... |
ORPHA:904 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia |
ORPHA:88673 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia |
ORPHA:352540 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short philtrum, Hypocalcemia, Thin upper lip vermilion |
OMIM:607143 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Osteopetrosis With Renal Tubular Acidosis |
|
High palate, Narrow mouth, Hypocalcemia, Persistence of primary teeth, Tooth malposition, Osteope... |
ORPHA:2785 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Persistence of primary teeth, Carious teeth, Hypocalc... |
ORPHA:93325 |
Hennekam Syndrome |
|
Gingival overgrowth, Tooth agenesis, Hypocalcemia, Narrow mouth, Supernumerary tooth, Craniosynos... |
ORPHA:2136 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Glucagonoma |
|
Stomatitis, Glossitis, Hypercalcemia |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 2 |
|
Abnormal tongue morphology, Thick vermilion border, Hypercalcemia |
ORPHA:653 |
Double Outlet Right Ventricle |
|
Narrow mouth, Hypocalcemia, Cleft palate, Submucous cleft hard palate |
ORPHA:3426 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hypoproteinemia, Micrognathia, Thin upper l... |
ORPHA:1655 |
Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Velopharyngeal insufficiency, Cleft palate, Retrognathia, Open mouth, Pierre-Robin ... |
OMIM:192430 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density |
ORPHA:428 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia, Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Pr... |
ORPHA:667 |
Cranioectodermal Dysplasia 1 |
|
High palate, Anodontia, Hypocalcemia, High, narrow palate, Hypodontia, Everted lower lip vermilio... |
OMIM:218330 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Multiple Endocrine Neoplasia Type 1 |
|
Osteolysis, Gingival fibromatosis, Hypercalcemia, Reduced bone mineral density |
ORPHA:652 |
Williams-Beuren Syndrome |
|
Dental malocclusion, Hypodontia, Malar flattening, Osteopenia, Long philtrum, Microdontia, Osteop... |
OMIM:194050 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia, Cleft palate, Micrognathia, Short philtrum, Hypoplastic frontal sinuses, Thin upper... |
OMIM:300712 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Hypocalcemia, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:36234 |
Sarcoidosis |
|
Bone cyst, Parotitis, Enlargement of parotid gland, Hypercalcemia |
ORPHA:797 |
Cartilage-Hair Hypoplasia |
|
Gingival overgrowth, Hypocalcemia, Abnormal bone ossification, Abnormally ossified vertebrae, Abn... |
ORPHA:175 |
Enamel-Renal Syndrome |
|
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... |
ORPHA:1031 |
Sotos Syndrome |
|
No permanent dentition, Hypodontia, Craniosynostosis, Abnormality of the dentition, Hypercalcemia... |
ORPHA:821 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Malar flattening, Absent/hypoplastic paranasal sinuses, Hypoplasia of the nasal bon... |
ORPHA:280651 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany |
ORPHA:73224 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... |
ORPHA:37042 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Igg4-Related Thyroid Disease |
|
Sialadenitis, Hypocalcemia |
ORPHA:64744 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Hypocalcemia, Reduced bone mineral density, Osteopenia, Thin bony cortex, Unconjugat... |
OMIM:613658 |
22Q11.2 Deletion Syndrome |
|
Narrow mouth, Hypocalcemia, Cleft palate, Malar flattening, Abnormality of the dentition, Short p... |
ORPHA:567 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Cleft palate, Short philtrum, Thin upper lip vermilion |
ORPHA:163979 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Cleft palate, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Median cleft lip and palate, Hyperal... |
ORPHA:699 |
Gitelman Syndrome |
|
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia |
ORPHA:358 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Hypomagnesemia, Hypocalcemia, Narrow mouth, Micrognathia, Agenesis of pe... |
OMIM:619503 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... |
OMIM:619991 |
Digeorge Syndrome |
|
High palate, Hypocalcemia, High, narrow palate, Cleft palate, Micrognathia, Short philtrum, Bifid... |
OMIM:188400 |
Visceral Steatosis, Congenital |
|
Hypocalcemia |
OMIM:228100 |
Thymic Aplasia |
|
Hypocalcemic tetany, Sinusitis |
ORPHA:83471 |
Johanson-Blizzard Syndrome |
|
Agenesis of permanent teeth, Increased VLDL cholesterol concentration, Hypocalcemia, Hypoplasia o... |
OMIM:243800 |
Charge Syndrome |
|
Cleft upper lip, Hypocalcemia, Malar flattening, Cleft palate, Micrognathia |
OMIM:214800 |