Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia, Increased bone mineral density |
OMIM:190320 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Cranial hyperostosis, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Anem... |
OMIM:259710 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Generalized osteosclerosis, Osteopetrosis, Bone ... |
OMIM:166600 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... |
ORPHA:3416 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Osteolytic defects ... |
OMIM:265800 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... |
OMIM:611490 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... |
ORPHA:2790 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... |
OMIM:612840 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... |
ORPHA:210110 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, S... |
OMIM:259700 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Flynn-Aird Syndrome |
|
Carious teeth, Increased bone density with cystic changes, Osteoporosis, Increased bone mineral d... |
OMIM:136300 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Broad jaw, Increased bone mineral density |
ORPHA:178377 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Pyle Disease |
|
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Red... |
OMIM:265900 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Micrognathia, High palate, Epiphyseal stippling |
OMIM:614882 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... |
ORPHA:3352 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Craniosynostosis, Abnormal bone ossification, Tooth agenesis, Multiple unerupted teeth |
ORPHA:2645 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, De... |
OMIM:259730 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Broad jaw, Osteopenia, Mandibular osteomyelitis, Recurrent fractures |
ORPHA:53697 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Isolated Osteopoikilosis |
|
Cleft palate, Sclerosis of foot bone, Sclerotic foci in hand bones, Abnormal bone ossification, T... |
ORPHA:166119 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Micrognathia, Ascites, Osteopetrosis, Gingival overgrowth, Decreased osteoclast cou... |
OMIM:259720 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Micrognathia, Osteopetrosis |
OMIM:617306 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... |
OMIM:273050 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Osteogenesis Imperfecta, Type Xii |
|
Micrognathia, High palate, Osteoporosis, Malar flattening, Delayed eruption of teeth, Narrow mout... |
OMIM:613849 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Micrognathia, Cleft palate, Osteopetrosis, Bifid uvula, Delayed eruption of ... |
ORPHA:2780 |
Eiken Syndrome |
|
Thick lower lip vermilion, Delayed tarsal ossification, Short philtrum, Eruption failure, Oligodo... |
OMIM:600002 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Otodental Dysplasia |
|
Ankylosis, Hypodontia, Pulp calcification, Long philtrum, Taurodontia |
OMIM:166750 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Abnormality of the dentition, Osteoporosis, Osteopenia |
OMIM:615269 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mine... |
ORPHA:37748 |
Short Stature, Dauber-Argente Type |
|
Reduced bone mineral density, Delayed eruption of teeth, Osteopenia |
OMIM:619489 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical sclerosis, Crani... |
OMIM:122860 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Pulp calcification, Taurodontia, Microdontia |
OMIM:313490 |
Lowry-Maclean Syndrome |
|
Craniosynostosis, Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Marbach-Rustad Progeroid Syndrome |
|
Hypodontia, Micrognathia, Smooth philtrum, Eruption failure, Reduced bone mineral density, Delaye... |
OMIM:619322 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling, Glossoptosis, Elevated circulating aspartate aminotransferase... |
OMIM:614876 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Cranioectodermal Dysplasia |
|
Hypodontia, Microdontia, Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Tauro... |
ORPHA:1515 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Acute hepatic failure, Rickets of the lower... |
ORPHA:882 |
Ramon Syndrome |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Gingival fibromatosi... |
ORPHA:3019 |
Familial Expansile Osteolysis |
|
Premature loss of teeth, Thin bony cortex, Pathologic fracture, Fragile teeth, Osteolysis |
OMIM:174810 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Malar flattening, Advanced ossification of carpal bones... |
OMIM:215045 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Premature loss of teeth, Anemia, Splenomegaly, Osteopenia, Gingivitis, Recurrent fr... |
OMIM:618107 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Abnormal cortical bone morphology, Limitation of joint mobility, Patho... |
ORPHA:166277 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... |
ORPHA:3238 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Generalized microdontia, Amelogenesis imperfecta |
OMIM:104530 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Coarse metaphyseal trabecularizatio... |
ORPHA:1782 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Familial Osteodysplasia, Anderson Type |
|
Carious teeth, Failure of eruption of permanent teeth, Mandibular prognathia, Increased susceptib... |
ORPHA:2769 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density, Polycystic liver disease |
OMIM:109130 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
Desmosterolosis |
|
Micrognathia, Cleft palate, Osteopetrosis, Bifid uvula, Splenomegaly, Narrow mouth, Increased bon... |
ORPHA:35107 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Oligodontia, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusio... |
ORPHA:90650 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Calvarial hyperostosis, Anemia of ... |
OMIM:612714 |
Proteus Syndrome |
|
Mandibular hyperostosis, Thin bony cortex, Lymphangioma, Splenomegaly, Open mouth, Calvarial hype... |
OMIM:176920 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Abnormal trabecular bone morphology |
OMIM:612301 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Gingival bleeding, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenome... |
ORPHA:77259 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Craniosynostosis, Osteopenia, Joint hypermobility, Recurrent fractures, Persistence ... |
OMIM:147060 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High palate, Thrombocytopenia, Leukopenia,... |
ORPHA:2785 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... |
ORPHA:53 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Recurrent m... |
OMIM:225410 |
Gorham-Stout Disease |
|
Abnormality of ethmoid bone, Impaired mastication, Osteolysis involving bones of the lower limbs,... |
ORPHA:73 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Lymphadenopathy, Osteopetrosis, Craniosynostosis, Anemia, Delayed eruption of teeth... |
ORPHA:667 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated... |
ORPHA:79301 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Osteoporosis, Malar flattening, Amelogenesis imperfecta, Elevated hepatic transamin... |
OMIM:614727 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Joint hyperflexibility, Hip osteoarthritis, Delayed eruption of teeth |
ORPHA:63442 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Taurodontia, Oligodontia |
OMIM:272980 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth |
OMIM:612463 |
Ck Syndrome |
|
Micrognathia, High palate, Malar flattening, Abnormal cortical bone morphology, Joint hypermobili... |
OMIM:300831 |
Osteogenesis Imperfecta, Type Xiii |
|
Long philtrum, Osteoporosis, Thin vermilion border, Joint hypermobility, Increased bone mineral d... |
OMIM:614856 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, High palate, Hypodontia, Delayed eruption of permanent teeth, Genera... |
ORPHA:763 |
Aredyld Syndrome |
|
Hepatomegaly, Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced... |
ORPHA:1133 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... |
OMIM:231095 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Fibromatosis, Gingival, With Distinctive Facies |
|
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... |
OMIM:228560 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Micrognathia, Increased bone mineral density, Deep philtrum |
ORPHA:1237 |
Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Cleft palate, Elbow ankylosis, Wide mouth, Mandibular prognathia, Osteopetro... |
ORPHA:2658 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal palate morphology, Crowded maxillary incisors, Micrognathia, Narrow palate, Tooth agenes... |
ORPHA:2063 |
Frank-Ter Haar Syndrome |
|
Premature loss of teeth, Short philtrum, Wide mouth, Mandibular prognathia, Gingival overgrowth, ... |
ORPHA:137834 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Micrognathia, High palate, Thin bony cortex, Malar flattening, Obtuse angle of mandible, Osteopen... |
ORPHA:85184 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... |
ORPHA:2025 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... |
ORPHA:2228 |
Buschke-Ollendorff Syndrome |
|
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... |
ORPHA:1306 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis |
OMIM:618476 |
Fgfr2-Related Bent Bone Dysplasia |
|
Decreased calvarial ossification, Micrognathia, Gingival overgrowth, Osteopenia, Hepatosplenomega... |
ORPHA:313855 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis |
ORPHA:970 |
Gapo Syndrome |
|
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High, narrow palate, Eruption failure, Joi... |
OMIM:230740 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Osteoporosis |
OMIM:618234 |
Catifa Syndrome |
|
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... |
OMIM:618761 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104510 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Grant Syndrome |
|
Abnormal palate morphology, Micrognathia, Open bite, Abnormal cortical bone morphology, Decreased... |
ORPHA:2097 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Hyperostosis, Taurodontia, Enamel hypoplasia, Subperiosteal bone formation |
OMIM:211900 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate, Arthrogryposis multiplex congenita |
OMIM:217150 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal palate morphology, Macroglossia, Hypoplasia of the zygomatic bone, Abnorm... |
ORPHA:1798 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Capitate-hamate fusion, Malar flattening, Synostosis of carpal bones, Absent fronta... |
OMIM:311300 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Thin vermilion border, Delayed eruption of teeth, Osteopenia, Hypoplasia of the max... |
OMIM:601812 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Delayed eruption of permanent teeth |
OMIM:112350 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, High palate, Microdontia, Mandibular prognathia, Sclerosis of skull base, Malar fl... |
OMIM:269300 |
Trisomy 9P |
|
Impacted tooth, Non-midline cleft lip, Downturned corners of mouth, Dental crowding |
ORPHA:236 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, High palate, Epiphyseal stippling, Long philtrum, Jaundice |
OMIM:614872 |
Metatropic Dysplasia |
|
Cleft palate, Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodact... |
ORPHA:2635 |
Camurati-Engelmann Disease |
|
Carious teeth, Cortical thickening of long bone diaphyses, Mandibular prognathia, Bone marrow hyp... |
OMIM:131300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
Cherubism |
|
Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Submandibular lymph node enl... |
OMIM:118400 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Diaphyseal sclerosis, Delayed eruption of teeth, Enam... |
ORPHA:94089 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly, Epiphyseal stippling |
OMIM:614870 |
Dysosteosclerosis |
|
Micrognathia, High palate, Premature loss of teeth, Oligodontia, Sclerosis of skull base, Increas... |
OMIM:224300 |
Majeed Syndrome |
|
Hepatomegaly, Leukocytosis, Hypochromic microcytic anemia, Synovitis, Congenital hypoplastic anem... |
ORPHA:77297 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Hypodontia, High palate, Bifid uvula, Delayed eruption of teeth, Joint contracture of the hand, O... |
OMIM:612350 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Micrognathia, High palate, Cleft palate, Long philtrum, Downturned corners of mouth, Increased bo... |
ORPHA:163649 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Oral ulcer, T lymphocytopenia |
OMIM:608971 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated ci... |
OMIM:619232 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Pseudo-fractures, Delayed eruption of teeth, Abnormal trabecular bone morpholog... |
ORPHA:289176 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Momo Syndrome |
|
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Thick upper lip vermilion... |
ORPHA:2563 |
Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of permanent teeth, Rickets, Increased susceptibility to fractures,... |
OMIM:146300 |
Craniosynostosis And Dental Anomalies |
|
Craniosynostosis, Supernumerary tooth, Delayed eruption of teeth, Coronal craniosynostosis, Hypop... |
OMIM:614188 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Alpha-Mannosidosis |
|
Widely spaced teeth, Hepatomegaly, Open bite, Macroglossia, Mandibular prognathia, Gingival overg... |
ORPHA:61 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology, Thin upper lip vermilion |
ORPHA:2512 |
Diastrophic Dysplasia |
|
Micrognathia, Cleft palate, Increased bone mineral density, Camptodactyly of finger, Joint stiffn... |
ORPHA:628 |
Osteoglophonic Dysplasia |
|
High palate, Eruption failure, Long philtrum, Mandibular prognathia, Increased susceptibility to ... |
OMIM:166250 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Thin bony cortex, Rickets, Delayed epiphyseal ossification, Delayed eruption of te... |
OMIM:277440 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
48,Xxyy Syndrome |
|
Carious teeth, Thick lower lip vermilion, Cleft palate, Open bite, Broad jaw, Abnormal dental ena... |
ORPHA:10 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Delayed eruption of permanent teeth, Mandibular prognathia, Patchy sclerosis of finger phalanx, F... |
OMIM:218400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:369 |
Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion |
OMIM:141300 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta |
OMIM:615905 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, High palate, Ascites, Vacuolated lymphocytes, Cardiomegaly, Gingival overgrowth, Sp... |
OMIM:269920 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Premature loss of teeth, Osteoporosis, Increased bone mineral density, Recurrent fract... |
OMIM:239000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth, Enamel hyp... |
OMIM:264700 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Eiken Syndrome |
|
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... |
ORPHA:79106 |
Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Ankle flexion contracture, High palate, Partial fusion ... |
OMIM:305620 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Camptodactyly ... |
ORPHA:2863 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Micrognathia, Thin vermilion border, Splenomegaly, Flexion contracture |
OMIM:608540 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:1486 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... |
ORPHA:1028 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Hypodontia, Cranial hyperostosis, Oligodontia |
OMIM:601345 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, High palate, Eruption failure, Long philtrum, Abnormality of the dentition, Dental ... |
ORPHA:476126 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... |
ORPHA:98848 |
Mulibrey Nanism |
|
Hepatomegaly, Hypodontia, Ascites, Hypoplastic frontal sinuses, Thickened cortex of long bones, M... |
OMIM:253250 |
Temple-Baraitser Syndrome |
|
Delayed phalangeal epiphyseal ossification, Everted upper lip vermilion, High palate, Wide mouth,... |
ORPHA:420561 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... |
OMIM:600785 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Smooth philtrum, High palate, Microdontia, Wide mouth, Long philtrum, Premature lo... |
ORPHA:50814 |
Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Micrognathia, Microdontia, Long philtrum, Osteoarthritis, Delayed eruption of teet... |
OMIM:190350 |
Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Hepatomegaly, Abnormal palate morphology, Lymphadenopathy, Abnormal lymph... |
ORPHA:100026 |
Immunodeficiency 33 |
|
Hypodontia, Delayed eruption of teeth, Conical tooth |
OMIM:300636 |
Coffin-Siris Syndrome 10 |
|
Persistence of primary teeth, Wide mouth |
OMIM:618506 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis |
ORPHA:1525 |
Raine Syndrome |
|
Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Mandibular prognathia, Malar fl... |
OMIM:259775 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Cleft palate, Craniosynostosis, Delayed eruption of teeth, Osteopenia, Osteomyelitis, Gingivitis,... |
ORPHA:2314 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Rickets, Increased susceptibility to fractures, Delayed epiphyseal ossification... |
ORPHA:289157 |
Singleton-Merten Syndrome 1 |
|
Carious teeth, Smooth philtrum, Eruption failure, Hypoplasia of the tooth germ, Osteoporosis, Car... |
OMIM:182250 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Rickets, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with epi... |
OMIM:211600 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... |
ORPHA:1310 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Lipogranulomatosis... |
OMIM:228000 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Reduced bone mineral density, Micrognathia, High palate, Hypodontia, L... |
ORPHA:740 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones |
OMIM:114000 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Reduced bone ... |
ORPHA:848 |
Odontochondrodysplasia 1 |
|
Long philtrum, Osteoporosis, Delayed eruption of teeth, Joint hypermobility, Dentinogenesis imper... |
OMIM:184260 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling |
OMIM:614859 |
Melnick-Needles Syndrome |
|
Micrognathia, Tooth malposition, Abnormal cortical bone morphology, Delayed eruption of teeth, Cr... |
ORPHA:2484 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Hypodontia, Oligodontia, Abnormal dental enamel morphology, Splenomegaly, Cholestas... |
ORPHA:59303 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Abnormality of the abdominal organs, Cleft palate, Micrognathia, Talon cusp,... |
ORPHA:2409 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Long philtrum, Macroglossia, Delayed eruption of teeth, Broad philtrum, Thick vermil... |
OMIM:616354 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Micrognathia, Cleft soft palate, Osteoporosis, Decreased skull ossification, Limita... |
ORPHA:99742 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth |
OMIM:612462 |
12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Hypodontia, Micrognathia, Thin vermilion border, Downturned corners of... |
ORPHA:94063 |
Dyskeratosis Congenita |
|
Carious teeth, Hepatomegaly, Hypodontia, Thrombocytopenia, Osteoporosis, Neoplasm of the pancreas... |
ORPHA:1775 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Osteogenesis Imperfecta, Type Xviii |
|
Micrognathia, Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Abnormality of the... |
OMIM:617952 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Micrognathia, Osteoporosis, Hepatic steatosis, Narrow mouth, Flexion contracture, E... |
OMIM:615381 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
Dens In Dente And Palatal Invaginations |
|
Abnormality of the dentition, Dens in dente |
OMIM:125300 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Eruption failure, Supernumerary tooth, Odontoma, Hepatoblastoma, Abnormality of th... |
OMIM:175100 |
Laron Syndrome |
|
Micrognathia, Microdontia, Delayed eruption of teeth, Osteoarthritis, Tooth agenesis |
ORPHA:633 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Recurrent fractures, Splenomegaly |
ORPHA:417 |
Tetrasomy 12P |
|
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Abnormal soft palate morphol... |
ORPHA:884 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer |
OMIM:618852 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micrognathia, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic st... |
OMIM:301045 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Micrognathia, Cleft palate, High, narrow palate, Open bite, Mandibular ... |
ORPHA:1452 |
Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Osteoporosis, Splenomegaly, Flexion contracture |
ORPHA:87876 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth |
ORPHA:73272 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Cleidocranial Dysplasia |
|
High, narrow palate, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth... |
OMIM:119600 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis |
ORPHA:391 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Widely spaced teeth, Hepatomegaly, High palate, Hepatic fibrosis, Microdontia, Wide mouth, Macrog... |
OMIM:266920 |
Pfapa Syndrome |
|
Abnormal oral cavity morphology, Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly |
ORPHA:42642 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Craniosynostosis, Dental crowding, Long philtrum |
OMIM:145420 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Splenomegaly, Cirrhosis, Hepatic fai... |
OMIM:607765 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Anemia, Delayed eruptio... |
ORPHA:2325 |
Aarskog-Scott Syndrome |
|
Cleft palate, Long philtrum, Cleft upper lip, Abnormal vertebral segmentation and fusion, Delayed... |
ORPHA:915 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Osteoporosis, Malar flattening |
OMIM:266510 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Open bite, Mandibular prognathia, Abnormality of dental eruption, Downturned corners... |
ORPHA:1327 |
Growth Hormone Insensitivity Syndrome |
|
Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth |
ORPHA:181393 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Abnormal palate morphology, Hyperostosis, Abnormality of the gingiva, Splenomegaly,... |
ORPHA:53715 |
Multiple Symmetric Lipomatosis |
|
Joint stiffness, Hepatomegaly |
ORPHA:2398 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Cleft palate, Short philtrum, Craniosynostosis, Natal tooth |
OMIM:201050 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth |
OMIM:103580 |
Rothmund-Thomson Syndrome |
|
Carious teeth, Neutropenia, Microdontia, Leukemia, Increased susceptibility to fractures, Supernu... |
ORPHA:2909 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion |
ORPHA:181 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... |
OMIM:313500 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... |
ORPHA:93284 |
Odontochondrodysplasia |
|
Retrognathia, Joint hyperflexibility, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Abnormal cementum morphology, Eruption failure, ... |
ORPHA:733 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Smooth philtrum, Epiphyseal stippling, Downturned corners of mouth, Pancytopenia |
ORPHA:251009 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Interphalangeal joint contracture of finger, Micrognathia, Ankle flexion contracture, Metatarsal ... |
OMIM:259600 |
Beta-Thalassemia Intermedia |
|
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Anemia of inadequate production, ... |
ORPHA:231222 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
Elsahy-Waters Syndrome |
|
Thick lower lip vermilion, High palate, Long philtrum, Mandibular prognathia, Malar flattening, B... |
OMIM:211380 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Anemia, Delayed eruption of teeth |
OMIM:614450 |
Spondylocarpotarsal Synostosis Syndrome |
|
Tarsal synostosis, Cleft palate, Failure of eruption of permanent teeth, Capitate-hamate fusion, ... |
OMIM:272460 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Stomatitis, Periostitis, Osteopenia, Splenomegaly, Neutrophilia, Osteomyelitis, Fus... |
OMIM:612852 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Anemia, Arthritis |
ORPHA:375 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Anodontia, Supernumerary tooth, Delayed eruption of teeth, Narrow pala... |
OMIM:264475 |
Acrodysostosis |
|
Open bite, Epiphyseal stippling, Mandibular prognathia, Delayed eruption of teeth, Open mouth, Hy... |
ORPHA:950 |
Acrofacial Dysostosis, Weyers Type |
|
Hypodontia, Solitary median maxillary central incisor, Advanced eruption of teeth, Conical tooth,... |
ORPHA:952 |
X-Linked Hypophosphatemia |
|
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... |
ORPHA:89936 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Hepatomegaly, Micrognathia, High palate, Deep philtrum, Osteopenia, Contractures of the large joi... |
ORPHA:329178 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Oligodontia, Hypoplastic fr... |
ORPHA:90652 |
Codas Syndrome |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormality of dental morphology, E... |
ORPHA:1458 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Recurrent fractures, Osteoporosis, Osteopenia |
OMIM:126550 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased susceptibility to fractures, Anemia, Splenomegaly, Increased bone mineral... |
ORPHA:77261 |
Oculodentodigital Dysplasia |
|
Carious teeth, Cleft palate, Premature loss of teeth, Microdontia, Cleft upper lip, Vertebral hyp... |
OMIM:164200 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Neutropenia, Synovitis, Lymphadenopathy, Abnormal lymphocyte morphology,... |
ORPHA:47612 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Widely spaced primary teeth, Hypoplasia of the primary teeth, Mandibular prognathia... |
ORPHA:90322 |
Oculodentodigital Dysplasia |
|
Carious teeth, Micrognathia, Cleft palate, Cranial hyperostosis, Mandibular prognathia, Hyperosto... |
ORPHA:2710 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Subperiosteal bone formation |
OMIM:609993 |
Gardner Syndrome |
|
Supernumerary tooth, Odontoma, Neoplasm of the pancreas, Hepatoblastoma, Abnormality of the denti... |
ORPHA:79665 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Hall-Riggs Syndrome |
|
Wide mouth, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturned corners of m... |
ORPHA:2107 |
Sanjad-Sakati Syndrome |
|
Micrognathia, Long philtrum, Patchy osteosclerosis, Thin vermilion border, Abnormal dental enamel... |
ORPHA:2323 |
Smith-Magenis Syndrome |
|
Micrognathia, Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Tented upper ... |
ORPHA:819 |
Gaucher Disease |
|
Hepatomegaly, Gingival bleeding, Hepatitis, Anemia, Abnormal bone structure, Arthrogryposis multi... |
ORPHA:355 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Thin vermilion border, Delayed epiphyseal ossification, Splenomegaly, Joint laxity |
OMIM:602557 |
Momo Syndrome |
|
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Delayed eruption of teeth... |
OMIM:157980 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Sclerosis of skull base, Tooth malposition, Calvarial osteosclerosis |
OMIM:123000 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Long philtrum, Malar flattening, Synostosis of joints, Increased bone mineral densi... |
ORPHA:50945 |
Pitt-Hopkins Syndrome |
|
Abnormal palate morphology, Short philtrum, Wide mouth, Failure of eruption of permanent teeth, T... |
ORPHA:2896 |
Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Hepatomegaly, Dense calvaria, Splenomegaly |
OMIM:252900 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cleft palate, Failure of eruption of permanent teeth, Tooth malposition, Bifid uvula, Submucous c... |
ORPHA:2250 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Cleft palate, High palate, Delayed eruption of permanent teeth, Oligodontia, Malar ... |
OMIM:170390 |
Microcephaly, Amish Type |
|
Hepatomegaly, Micrognathia, Flexion contracture |
OMIM:607196 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Cleft palate, Oligodontia, Long philtrum, Solitary median maxillary c... |
ORPHA:2712 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micrognathia, Long philtrum, Patchy osteosclerosis, Thin vermilion border, Bifid uvula |
OMIM:241410 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Osteoporosis |
OMIM:601979 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Premature loss of teeth, Osteopenia, Periodontitis, Dentinog... |
OMIM:619269 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:617441 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Dense calvaria, Splenomegaly, Everted lower lip vermilion, Joint stiffness |
OMIM:252930 |
Char Syndrome |
|
Symphalangism of the 5th finger, Short philtrum, Malar flattening, Everted lower lip vermilion, T... |
ORPHA:46627 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Osteoporosis, Cardiomegaly, Splenomegaly, Cirrho... |
OMIM:235200 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Narrow mouth, Open mouth |
OMIM:619356 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Long philtrum, Abnormal dental ... |
OMIM:257850 |
Helsmoortel-Van Der Aa Syndrome |
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Widely spaced teeth, Thick lower lip vermilion, Smooth philtrum, Wide mouth, Long philtrum, Advan... |
OMIM:615873 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Thin bony cortex, Abnormal abdomen morphology, Rickets, Delayed epiphyseal ossification, Recurren... |
OMIM:241530 |
Sclerosteosis 1 |
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Mandibular prognathia, Malar flattening, Sclerotic scapulae, Dental malocclusion, Facial palsy se... |
OMIM:269500 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
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High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding |
OMIM:618825 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:600081 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Cardiomegaly, Dense calvaria, Splenomegaly, Joint stiffness |
OMIM:252920 |
4H Leukodystrophy |
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Abnormality of the dentition, Hypodontia, Drooling, Delayed eruption of teeth |
ORPHA:289494 |
Coffin-Lowry Syndrome |
|
Widely spaced teeth, Thick lower lip vermilion, Hypodontia, High palate, Wide mouth, Delayed erup... |
ORPHA:192 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... |
OMIM:112250 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Splenomegaly |
OMIM:615947 |
Mucopolysaccharidosis, Type Ii |
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Widely spaced teeth, Hepatomegaly, Thick lower lip vermilion, Tracheobronchomalacia, Macroglossia... |
OMIM:309900 |
Brachydactyly, Type B1 |
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Vertebral fusion, Delayed eruption of permanent teeth, Joint contracture of the hand, Camptodactyly |
OMIM:113000 |
Poems Syndrome |
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Thrombocytosis, Sclerosis of foot bone, Ascites, Lymphadenopathy, Polycythemia, Sclerosis of hand... |
ORPHA:2905 |
Pachydermoperiostosis |
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Hepatomegaly, Osteoporosis, Anemia, Arthritis, Abnormal cortical bone morphology, Osteomyelitis, ... |
ORPHA:2796 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Conical incisor, Smooth philtrum, Oligodontia, Gingival overgrowth, Malar flattening, Delayed eru... |
OMIM:235510 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hepatomegaly, Pancreatitis, Advanced eruption of teeth, Splenomegaly, Hepatic steatosis |
ORPHA:2348 |
Autoimmune Hypoparathyroidism |
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Increased bone mineral density |
ORPHA:36913 |
Shwachman-Diamond Syndrome |
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Carious teeth, Sinusitis, Pancreatic hypoplasia, Neutropenia, Leukemia, Delayed eruption of teeth... |
ORPHA:811 |
Mucopolysaccharidosis, Type Iva |
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Carious teeth, Hepatomegaly, Widely spaced teeth, Wide mouth, Mandibular prognathia, Osteoporosis... |
OMIM:253000 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Hepatomegaly, Micrognathia, Cholestasis, Jaundice |
OMIM:614887 |
48,Xxxy Syndrome |
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Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... |
ORPHA:96263 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
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Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Rothmund-Thomson Syndrome Type 2 |
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Carious teeth, Cleft palate, High palate, Microdontia, Neutropenia, Leukemia, Abnormal dental ena... |
ORPHA:221016 |
Mucopolysaccharidosis, Type Ivb |
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Carious teeth, Hepatomegaly, Widely spaced teeth, Wide mouth, Mandibular prognathia, Osteoporosis... |
OMIM:253010 |
Gaucher Disease Type 2 |
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Hepatomegaly, Flexion contracture, Splenomegaly |
ORPHA:77260 |
Gapo Syndrome |
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Abnormal palate morphology, Micrognathia, Long philtrum, Mandibular prognathia, Delayed eruption ... |
ORPHA:2067 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Hypodontia, Abnormality of primary molar morphology, N... |
ORPHA:1830 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Craniolenticulosutural Dysplasia |
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Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Malar flattening, Bifid ... |
OMIM:607812 |
Hyperbilirubinemia, Shunt, Primary |
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Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... |
OMIM:237800 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Zimmermann-Laband Syndrome |
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Hepatomegaly, Micrognathia, Cleft palate, High palate, Hypodontia, Wide mouth, Macroglossia, Supe... |
ORPHA:3473 |
Camurati-Engelmann Disease |
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Carious teeth, Hepatomegaly, Cortical thickening of long bone diaphyses, Leukopenia, Hyperostosis... |
ORPHA:1328 |
Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Short philtrum, Ascites, Lymphadenopathy, Lymphangioma, Supernumerary... |
ORPHA:2136 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Coffin-Siris Syndrome 3 |
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Macroglossia, Delayed eruption of permanent teeth, Wide mouth |
OMIM:614608 |
Prolidase Deficiency |
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Carious teeth, Hepatomegaly, Micrognathia, Hypoplasia of the zygomatic bone, Splenomegaly, Reduce... |
ORPHA:742 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Abnormality of the frontal bone, Rickets, Fibrous dysplasia of the bones, Abnor... |
ORPHA:249 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Hallermann-Streiff Syndrome |
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High, narrow palate, Micrognathia, Abdominal situs inversus, Supernumerary tooth, Malar flattenin... |
ORPHA:2108 |
Free Sialic Acid Storage Disease |
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Reduced bone mineral density, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:834 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Long philt... |
OMIM:610199 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Short philtrum, Delayed eruption of teeth, Taurodontia, Macrodontia |
ORPHA:3214 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hepatomegaly, Micrognathia, Pancreatitis, Advanced eruption of teeth, Splenomegaly, Acroosteolysi... |
ORPHA:280365 |
Trichothiodystrophy |
|
Carious teeth, High, narrow palate, Neutropenia, Craniosynostosis, Anemia, Osteopenia, Enamel hyp... |
ORPHA:33364 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Mandibulofacial Dysostosis With Alopecia |
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Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip ve... |
OMIM:616367 |
49,Xxxxy Syndrome |
|
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... |
ORPHA:96264 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
OMIM:300554 |
Erythroleukemia, Familial, Susceptibility To |
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Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Porphyria, Congenital Erythropoietic |
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Cholelithiasis, Joint contracture of the hand, Abnormality of the mouth, Splenomegaly, Pathologic... |
OMIM:263700 |
Rothmund-Thomson Syndrome Type 1 |
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Carious teeth, Neutropenia, Microdontia, Leukemia, Abnormal dental enamel morphology, Anemia, Del... |
ORPHA:221008 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Ascites, Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Splenomegaly, Eleva... |
OMIM:257200 |
Neuraminidase Deficiency |
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Hepatomegaly, Ascites, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Card... |
OMIM:256550 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Hepatomegaly, Gingival bleeding, Fulminant hepatitis, Hepatic failure, Elevated hepatic transamin... |
OMIM:618549 |
Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Micrognathia, Cleft palate, High palate, Flexion contracture of toe, Hip co... |
ORPHA:800 |
Short Syndrome |
|
Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of mouth, Dental malocclu... |
OMIM:269880 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Abnormal dental pulp morphology, Rootless teeth, Elevated hepatic tra... |
ORPHA:416 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Micrognathia, Abnormally ossified vertebrae, Splenomegaly |
ORPHA:3035 |
Desmosterolosis |
|
Micrognathia, Cleft palate, Alveolar ridge overgrowth, Generalized osteosclerosis, Joint contract... |
OMIM:602398 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Carious teeth, Hepatomegaly, Chronic neutropenia, Delayed eruption of permanent teeth, Hepatocell... |
ORPHA:79259 |
Beta-Thalassemia Major |
|
Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microc... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
|
Malar prominence, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Oste... |
ORPHA:231226 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Carpenter Syndrome 1 |
|
Micrognathia, High palate, Malar flattening, Joint contracture of the hand, Persistence of primar... |
OMIM:201000 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... |
OMIM:616828 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Thin vermilion border, Malar flattening, Thin upper lip vermilion... |
OMIM:232400 |
Nance-Horan Syndrome |
|
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors |
OMIM:302350 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Micrognathia, Cleft palate, Epiphyseal stippling, Intrahepatic biliary dysgenesis, ... |
OMIM:614866 |
Triploidy |
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Hepatomegaly, Micrognathia, Cleft palate, Abnormality of the gallbladder, Wide mouth, Macroglossi... |
ORPHA:3376 |
Sea-Blue Histiocyte Disease |
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Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
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Micrognathia, Ascites, Thin vermilion border, Anemia, Splenomegaly, Narrow mouth |
ORPHA:1046 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Faciocardiomelic Syndrome |
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Micrognathia, Thin bony cortex, Wide mouth, Long philtrum, Osteopenia, Hyperplasia of the maxilla... |
OMIM:612731 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Pseudohypoparathyroidism Type 1C |
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Enamel hypoplasia, Ectopic ossification, Increased bone mineral density, Delayed eruption of teeth |
ORPHA:79444 |
Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth |
ORPHA:1811 |
Immunodeficiency 49 |
|
Micrognathia, Eosinophilia, Short philtrum, Lymphopenia, Natal tooth |
OMIM:617237 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Cortical thickening of long bone diaphyses, Anemia, Calvarial osteosclerosis, Decr... |
ORPHA:93325 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of the dentition, Taurodontia, Abnormal dental enamel morphology, Camptodactyly of fi... |
ORPHA:3220 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Cleft palate, Short philtrum, Craniosynostosis, Advanced eruption of teeth |
ORPHA:949 |
Rothmund-Thomson Syndrome, Type 2 |
|
Micrognathia, High palate, Microdontia, Annular pancreas, Mandibular prognathia, Supernumerary to... |
OMIM:268400 |
Sotos Syndrome |
|
High, narrow palate, High palate, Mandibular prognathia, Advanced eruption of teeth, Narrow palat... |
OMIM:117550 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Weismann-Netter Syndrome |
|
Anemia, Abnormal cortical bone morphology |
ORPHA:3344 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypodontia, Epiphyseal stippling, Mandibular prognathia, Neonatal epiphyseal stippling, Delayed e... |
OMIM:101800 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Arthritis, Splenomegaly |
OMIM:602390 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Abnormal cortical bone morphology, Cholelithiasis, Hepatic failure |
OMIM:614886 |
Aspartylglucosaminuria |
|
Carious teeth, Hepatomegaly, Macroglossia, Mandibular prognathia, Gingival overgrowth, Arthritis,... |
ORPHA:93 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, High palate, Arthrogryposis multiplex congenita, Splenom... |
ORPHA:85212 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Micrognathia, Smooth philtrum, High, narrow palate, Ankle flexion contracture, Knee... |
OMIM:608799 |
Galactosemia |
|
Hepatomegaly, Ascites, Reduced bone mineral density, Cirrhosis, Hepatic failure, Elevated hepatic... |
ORPHA:352 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Micrognathia, Generalized bone demineralization, Abnormal bone ossification, Hypero... |
ORPHA:73230 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Delayed eruption of teeth, Oligodontia |
OMIM:614381 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Wilson Disease |
|
Hepatomegaly, Hepatocellular carcinoma, Osteoarthritis, Osteoporosis, Drooling, Cirrhosis, Joint ... |
OMIM:277900 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis, Re... |
OMIM:613101 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Odontogenic neoplasm, Abnormal dental enamel morphology, Delayed eruption of teeth... |
ORPHA:534 |
Malan Syndrome |
|
Mandibular prognathia, Narrow mouth, Everted lower lip vermilion, Advanced eruption of teeth |
OMIM:614753 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Micrognathia, High palate, Irregular dentition, Short philtrum, Gingival overgrowth, Delayed erup... |
OMIM:619148 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Limitation of joint mobility, Thrombocyt... |
ORPHA:108 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Recurrent aphthous stomatitis |
OMIM:611762 |
Cole-Carpenter Syndrome |
|
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth, Recurrent fractures, ... |
ORPHA:2050 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Micrognathia, Wide mouth, Long philtrum, Aplasia/Hypoplasia of the gallbladd... |
ORPHA:96092 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
OMIM:214900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... |
OMIM:616278 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... |
ORPHA:1451 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Bone cyst, Macroglossia, Mandibular prognathia, Cirrhosis, Hepatic steatosis |
ORPHA:528 |
Zimmermann-Laband Syndrome 1 |
|
Thick lower lip vermilion, Hepatomegaly, High palate, Mandibular prognathia, Gingival overgrowth,... |
OMIM:135500 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Oral ulce... |
OMIM:615122 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Delayed eruption of teeth, Reduced bone mineral density, Hyperostosis front... |
ORPHA:79443 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Trismus |
OMIM:230900 |
X-Linked Non-Syndromic Intellectual Disability |
|
Thick lower lip vermilion, Long philtrum, Drooling, Delayed eruption of teeth, Thin upper lip ver... |
ORPHA:777 |
Roifman Syndrome |
|
Hepatomegaly, Hip contracture, Long philtrum, Lymphadenopathy, Splenomegaly, Downturned corners o... |
OMIM:616651 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
Acrootoocular Syndrome |
|
High, narrow palate, Micrognathia, Supernumerary tooth, Delayed eruption of teeth, Dental maloccl... |
ORPHA:2980 |
Kleefstra Syndrome 1 |
|
Tracheobronchomalacia, U-Shaped upper lip vermilion, Macroglossia, Mandibular prognathia, Malar f... |
OMIM:610253 |
Werner Syndrome |
|
Joint stiffness, Neoplasm of the oral cavity, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
Leishmaniasis |
|
Hepatomegaly, Abnormal oral cavity morphology, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia,... |
ORPHA:507 |
Classic Galactosemia |
|
Hepatomegaly, Ascites, Osteoporosis, Reduced bone mineral density, Hepatic failure, Elevated hepa... |
ORPHA:79239 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Emanuel Syndrome |
|
Micrognathia, High palate, Cleft palate, Long philtrum, Submucous cleft lip, Tooth malposition, B... |
ORPHA:96170 |
Osteopathia Striata With Cranial Sclerosis |
|
Thick lower lip vermilion, Micrognathia, High palate, Cleft palate, Pierre-Robin sequence, Flexio... |
OMIM:300373 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Increased suscepti... |
OMIM:256810 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Stüve-Wiedemann Syndrome |
|
Thickened cortex of long bones, Osteoporosis, Abnormal cortical bone morphology, Knee flexion con... |
ORPHA:3206 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Osteoporosis, Cardiomegaly, Arthritis... |
ORPHA:465508 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Scheie Syndrome |
|
Hepatomegaly, Wide mouth, Splenomegaly, Everted lower lip vermilion, Thick vermilion border, Limi... |
ORPHA:93474 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly |
OMIM:226990 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thick lower lip vermilion, High, narrow palate, Smooth philtrum, Cleft palate, Short philtrum, Th... |
OMIM:309583 |
Three M Syndrome 2 |
|
High palate, Long philtrum, Malar flattening, Delayed eruption of teeth, Thick vermilion border, ... |
OMIM:612921 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Delayed eruption of teeth, Drooling, Oligodontia |
ORPHA:447896 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Essential Thrombocythemia |
|
Myelofibrosis, Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste... |
ORPHA:905 |
Ameloonychohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... |
OMIM:104570 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, High palate, Advanced eruption of teeth |
OMIM:262190 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Anemia, Increased bone mineral density |
OMIM:127000 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Micrognathia, Splenomegaly, Thick vermilion border, Joint stiffness |
OMIM:607015 |
Hurler-Scheie Syndrome |
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Hepatomegaly, Abnormality of the tonsils, Limitation of joint mobility, Splenomegaly |
ORPHA:93476 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent sinusitis, Follicular hyperplasia |
OMIM:240500 |
Hallermann-Streiff Syndrome |
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High, narrow palate, Micrognathia, High palate, Decreased number of sternal ossification centers,... |
OMIM:234100 |
Transaldolase Deficiency |
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Hepatomegaly, Hepatic fibrosis, Short philtrum, Wide mouth, Micronodular cirrhosis, Thin vermilio... |
OMIM:606003 |
Alpha-Heavy Chain Disease |
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Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100025 |
Chst3-Related Skeletal Dysplasia |
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Flexion contracture, Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
Portal Hypertension, Noncirrhotic, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Immunodeficiency 27A |
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Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Salmonella osteomy... |
OMIM:209950 |
Apert Syndrome |
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Cervical C5/C6 vertebrae fusion, Cleft palate, Mandibular prognathia, Malar flattening, Bifid uvu... |
OMIM:101200 |
Sulfite Oxidase Deficiency, Isolated |
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Delayed eruption of teeth |
OMIM:272300 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
Acute Panmyelosis With Myelofibrosis |
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Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... |
ORPHA:86843 |
Erdheim-Chester Disease |
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Retroperitoneal fibrosis, Anemia, Osteomyelitis, Increased bone mineral density, Osteolysis |
ORPHA:35687 |
Greenberg Dysplasia |
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Epiphyseal stippling, Malar flattening, Abnormal bone structure, Multiple prenatal fractures, Pat... |
OMIM:215140 |
Orofaciodigital Syndrome Type 2 |
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Peg-shaped maxillary lateral incisors, Micrognathia, Cleft palate, High palate, Agenesis of centr... |
ORPHA:2751 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Hepatomegaly, Osteoporosis, Rickets |
OMIM:560000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Dent Disease 1 |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurrent fractures, Sp... |
OMIM:300009 |
Lysosomal Acid Lipase Deficiency |
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Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Cockayne Syndrome Type 1 |
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Contractures involving the joints of the feet, Hepatomegaly, Widely spaced primary teeth, Hypopla... |
ORPHA:90321 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice |
ORPHA:75234 |
Kohlschutter-Tonz Syndrome-Like |
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Widely spaced teeth, Carious teeth, Smooth philtrum, Drooling, Amelogenesis imperfecta, Delayed e... |
OMIM:619229 |
Ectodermal Dysplasia With Adrenal Cyst |
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Delayed eruption of teeth |
OMIM:129550 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Microdontia, Oligodontia, Malar flattening, Conical tooth, Enamel hypoplasia, Dental malocclusion... |
OMIM:618727 |
Mixed Connective Tissue Disease |
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Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Xerostomia, Lymphadenopathy, Arthritis, Sp... |
ORPHA:809 |
Cerebellar-Facial-Dental Syndrome |
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Macrodontia of permanent maxillary central incisor, Contractures involving the joints of the feet... |
ORPHA:444072 |
Hurler Syndrome |
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Hepatomegaly, Microdontia, Gingival overgrowth, Splenomegaly, Hepatosplenomegaly, Thick vermilion... |
OMIM:607014 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... |
ORPHA:2088 |
Cystic Echinococcosis |
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Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cys... |
ORPHA:400 |
3M Syndrome |
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Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve... |
ORPHA:2616 |
Proteus-Like Syndrome |
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Thymus hyperplasia, Open bite, Mandibular prognathia, Hyperostosis, Splenomegaly |
ORPHA:2969 |
Polycythemia Vera |
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Hepatomegaly, Gingival bleeding, Acute leukemia, Myelofibrosis, Splenomegaly, Portal hypertension |
ORPHA:729 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
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Hepatomegaly, Epiphyseal stippling |
OMIM:614862 |
Amyloidosis, Familial Visceral |
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Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Immunodeficiency 16 |
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Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Macrocephaly/Autism Syndrome |
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