Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Cranial hyperostosis, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Chro... |
OMIM:259710 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Osteopetrosis, Epistaxis, Anemia, Abnormality of the lymph nodes, Spl... |
OMIM:612840 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Pycnodysostosis |
|
Carious teeth, Spondylolysis, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Prom... |
OMIM:265800 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Increased bone... |
ORPHA:2485 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hepatomegaly, Sandwich appearance of vertebral bodies, Osteopetrosis, Craniosynost... |
OMIM:259700 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... |
OMIM:273050 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... |
ORPHA:1802 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Bone ... |
OMIM:166600 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Abnormality of... |
ORPHA:210110 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Craniodiaphyseal Dysplasia |
|
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:218300 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Micrognathia, Ascites, Osteopetrosis, Gingival overgrowth, Decreased osteoclast cou... |
OMIM:259720 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones |
ORPHA:57782 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morph... |
ORPHA:2204 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Abnormal form of the vertebral bodies, Craniosynostosis, Anteverted nares, Brachyda... |
ORPHA:2645 |
Pyle Disease |
|
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... |
OMIM:265900 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, De... |
OMIM:259730 |
Immunodeficiency 13 |
|
B lymphocytopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Decreased propo... |
OMIM:615518 |
Fgfr2-Related Bent Bone Dysplasia |
|
Decreased calvarial ossification, Micrognathia, Short clavicles, Steep acetabular roof, Bowing of... |
ORPHA:313855 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... |
OMIM:136300 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia |
ORPHA:53697 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Osteopenia And Sparse Hair |
|
Joint laxity, Osteopenia |
OMIM:259690 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Eiken Syndrome |
|
Short middle phalanx of finger, Oligodontia, Pseudoepiphyses, Long hallux, Type A1 brachydactyly,... |
OMIM:600002 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Micrognathia, Cleft palate, Osteopetrosis, Bifid uvula, Delayed eruption of ... |
ORPHA:2780 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Craniometaphyseal Dysplasia |
|
Depressed nasal bridge, Osteopetrosis, Wide nasal bridge, Abnormality of the metaphysis, Craniofa... |
ORPHA:1522 |
Hypertrichosis Lanuginosa Congenita |
|
Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, Generalized hirsutism, Abnormality... |
ORPHA:2222 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mine... |
ORPHA:37748 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Short nose, M... |
OMIM:311300 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity |
OMIM:264010 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Brachyolmia Type 1, Hobaek Type |
|
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... |
OMIM:271530 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Prominent nose, Hepatomegaly, Micrognathia, High palate, Epiphyseal stippling |
OMIM:614882 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
Familial Osteodysplasia, Anderson Type |
|
Carious teeth, Prominent nose, Bifid femur, Depressed nasal ridge, Failure of eruption of permane... |
ORPHA:2769 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Depressed nasal bridge, Oligodontia, Hypoplastic frontal sinuses, Abnormal vertebra... |
ORPHA:90650 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Thin vermilion border, Abnormality of the metaphysis, Shor... |
ORPHA:2370 |
Beta-Thalassemia Intermedia |
|
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Anemia of inadequate production, ... |
ORPHA:231222 |
Greenberg Dysplasia |
|
Epiphyseal stippling, Malar flattening, Abnormal bone structure, Multiple prenatal fractures, Sho... |
OMIM:215140 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine... |
OMIM:231095 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cleft palate, Short nose, Slender finger, Anisospondyly, Increased bone mineral density, Antevert... |
ORPHA:163649 |
Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... |
ORPHA:79106 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Malar prominence, Decreased... |
ORPHA:231214 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Dominant Beta-Thalassemia |
|
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Malar prominence, Decreased mean corpuscular hem... |
ORPHA:231226 |
Osteoglophonic Dysplasia |
|
Pseudoarthrosis, Short metatarsal, Short nose, Malar flattening, Anteverted nares, Short phalanx ... |
OMIM:166250 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Short philtrum, Cone-shaped epiphysis, Osteoporosis, Platyspondyly, Delayed eruption of teeth, Pr... |
ORPHA:71267 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... |
ORPHA:2114 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis |
ORPHA:970 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor... |
ORPHA:2501 |
Desmosterolosis |
|
Metatarsus adductus, Micrognathia, Cleft palate, Depressed nasal bridge, Osteopetrosis, Short nos... |
ORPHA:35107 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Abnormality of epiphysis morphology, Generalized osteosclerosis, Anemia, Arthritis... |
ORPHA:53 |
Pycnodysostosis |
|
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Increased bone mineral density, Hypo... |
ORPHA:763 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Osteolysis |
OMIM:174810 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Hirsutism, Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, Generalized hirsutism, ... |
ORPHA:2026 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth, Hypohidrosis |
OMIM:129550 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
Fibromatosis, Gingival, With Distinctive Facies |
|
Irregular dentition, High palate, Delayed eruption of permanent teeth, Thick eyebrow, Everted low... |
OMIM:228560 |
Trisomy 9P |
|
Kyphosis, Clinodactyly of the 5th finger, Non-midline cleft lip, Downturned corners of mouth, Sac... |
ORPHA:236 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Abnormal dental enamel morphology, Delayed eruption of teeth, Advanced eruption of tee... |
ORPHA:1028 |
Diastrophic Dysplasia |
|
Micrognathia, Cleft palate, Depressed nasal bridge, Short finger, Abnormality of epiphysis morpho... |
ORPHA:628 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of epiphysis morphology, Hepatomegaly, Lymphadenopathy, Chronic rhinitis, Osteopetros... |
ORPHA:667 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Osteogenesis Imperfecta, Type Xii |
|
Micrognathia, High palate, Depressed nasal bridge, Osteoporosis, Malar flattening, Delayed erupti... |
OMIM:613849 |
Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... |
ORPHA:3352 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... |
ORPHA:1798 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Hypodontia, Polycystic ovaries, Delayed eruption of teeth, Conical tooth, Abnormality ... |
ORPHA:2228 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... |
ORPHA:3238 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Micrognathia |
OMIM:617306 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Gingival bleeding, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenome... |
ORPHA:77259 |
Hall-Riggs Mental Retardation Syndrome |
|
Thick lower lip vermilion, Prominent nose, Hypoplasia of the primary teeth, Microdontia of primar... |
OMIM:234250 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Malar flattening, Epiphyseal d... |
OMIM:614727 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture |
ORPHA:166277 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... |
ORPHA:2025 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... |
OMIM:600785 |
Osteogenesis Imperfecta, Type Xiii |
|
Joint hypermobility, Decreased body weight, Osteoporosis, Increased bone mineral density |
OMIM:614856 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Oral ulcer, T lymphocytopenia |
OMIM:608971 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly of finger, Short phalanx ... |
OMIM:612350 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Malar flattening, Sandal g... |
ORPHA:217340 |
Aredyld Syndrome |
|
Hepatomegaly, Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced... |
ORPHA:1133 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:312500 |
Hypercholanemia, Familial, 2 |
|
Osteopenia |
OMIM:619256 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:615887 |
Alpha-Mannosidosis |
|
Widely spaced teeth, Hepatomegaly, Depressed nasal bridge, Open bite, Macroglossia, Mandibular pr... |
ORPHA:61 |
Frank-Ter Haar Syndrome |
|
Premature loss of teeth, Depressed nasal bridge, Short philtrum, Wide mouth, Mandibular prognathi... |
ORPHA:137834 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Short nose, Abnormality of the mouth, Hepatosplenomegaly, Short neck, Shor... |
ORPHA:221054 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Decreased skull ossification,... |
ORPHA:3319 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Abnormal trabecular bone morphology, Femur fra... |
OMIM:612301 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Depressed nasal bridge, Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones,... |
ORPHA:40 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Odontochondrodysplasia |
|
Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short nose, Platyspondyl... |
ORPHA:166272 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, Recurrent bronchiolitis, T lymphoc... |
OMIM:619164 |
Marbach-Rustad Progeroid Syndrome |
|
Hypodontia, Micrognathia, Smooth philtrum, Short clavicles, Eruption failure, Convex nasal ridge,... |
OMIM:619322 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Fibular bowing, Horizontal sacrum, Lateral femoral bowing, K... |
OMIM:112350 |
Acromicric Dysplasia |
|
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... |
ORPHA:969 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High palate, Leukopenia, Osteopetrosis, To... |
ORPHA:2785 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Cleft palate, Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, ... |
ORPHA:2015 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
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High palate, Wide nose, Craniosynostosis, Osteopenia, Joint hypermobility, Recurrent fractures, P... |
OMIM:147060 |
Cherubism |
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Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Submandibular lymph node enl... |
OMIM:118400 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Hepatomegaly, Genu varum, Limb undergrowth, Metaphyseal irregularity, Thin vermilion border, Dela... |
OMIM:602557 |
Greenberg Dysplasia |
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Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Decreased skull ossification, Bra... |
ORPHA:1426 |
Hypophosphatemic Bone Disease |
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Osteomalacia, Rickets |
OMIM:146350 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
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Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Caffey Disease |
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Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones |
OMIM:114000 |
Spondylocarpotarsal Synostosis Syndrome |
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Cleft palate, Failure of eruption of permanent teeth, Capitate-hamate fusion, Short nose, C2-C3 s... |
OMIM:272460 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
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Hypodontia, Short middle phalanx of finger, Hip osteoarthritis, Abnormality of epiphysis morpholo... |
ORPHA:63442 |
Neutropenia, Chronic Familial |
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Premature loss of teeth, Neutropenia, Clubbing, Periodontitis, Gingivitis, Clubbing of fingers |
OMIM:162700 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Metaphyseal widening, Osteopetrosis, Platyspondyly, Kyphosis |
OMIM:618476 |
Mitochondrial Myopathy And Sideroblastic Anemia |
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Micrognathia, High palate, Long philtrum, Short nose, Anemia, Kyphosis, Scoliosis |
ORPHA:2598 |
Parastremmatic Dwarfism |
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Genu valgum, Kyphosis, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Spondylometaphyseal Dysplasia, X-Linked |
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Depressed nasal bridge, Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexio... |
OMIM:313420 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
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Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion,... |
ORPHA:181 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Carious teeth, Cleft palate, Pierre-Robin sequence, Hip contracture, Short long bone, Microretrog... |
OMIM:618363 |
Hypophosphatasia, Adult |
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Rickets, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Recurrent frac... |
OMIM:146300 |
Pseudoachondroplasia |
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Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
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Natal tooth, Cleft palate, Arthrogryposis multiplex congenita |
OMIM:217150 |
Proteus Syndrome |
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Mandibular hyperostosis, Thin bony cortex, Depressed nasal bridge, Lymphangioma, Splenomegaly, Op... |
OMIM:176920 |
Lowry-Maclean Syndrome |
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Cleft palate, Craniosynostosis, Delayed eruption of teeth |
OMIM:600252 |
Maxillonasal Dysplasia |
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Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Mandibular p... |
ORPHA:1248 |
Maxillonasal Dysplasia, Binder Type |
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Depressed nasal bridge, Short nose, Patchy distortion of vertebrae, Short columella, Vertebral cl... |
OMIM:155050 |
Codas Syndrome |
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Depressed nasal bridge, Coronal cleft vertebrae, Abnormality of epiphysis morphology, Abnormal fo... |
ORPHA:1458 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Osteomalacia, Hypophosphatemic rickets, Rickets |
OMIM:193100 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Erlenmeyer flask deformity of the ... |
OMIM:610539 |
Desbuquois Dysplasia 1 |
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Monkey wrench femoral neck, Smooth philtrum, Genu varum, Short metatarsal, Short nose, Malar flat... |
OMIM:251450 |
Opsismodysplasia |
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Hepatomegaly, Depressed nasal bridge, Tapered finger, Abnormality of epiphysis morphology, Short ... |
ORPHA:2746 |
Odontochondrodysplasia 1 |
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Genu varum, Delayed eruption of teeth, Short phalanx of finger, Flat acetabular roof, Short long ... |
OMIM:184260 |
Dysosteosclerosis |
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Irregular vertebral endplates, Abnormal dental enamel morphology, Platyspondyly, Delayed eruption... |
ORPHA:1782 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Micrognathia, High palate, 2-3 toe syndactyly, Eruption failure, Long philtrum, Tapered finger, P... |
ORPHA:476126 |
Immunodeficiency 84 |
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B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Hereditary Spherocytosis |
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Hepatomegaly, Anemia, Cholelithiasis, Gout, Splenomegaly, Extramedullary hematopoiesis, Increased... |
ORPHA:822 |
Weismann-Netter Syndrome |
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Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... |
ORPHA:3344 |
Kimura Disease |
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Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia |
ORPHA:482 |
Caffey Disease |
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Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... |
ORPHA:1310 |
Hemoglobin H Disease |
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Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Dysosteosclerosis |
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Increased intervertebral space, Oligodontia, Delayed eruption of teeth, Absent frontal sinuses, P... |
OMIM:224300 |
Ciliary Dyskinesia, Primary, 1 |
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Nasal polyposis, Asplenia, Recurrent bronchitis, Chronic rhinitis, Absent outer dynein arms, Chro... |
OMIM:244400 |
Acrodysostosis |
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Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Abnormal form of the vertebral b... |
ORPHA:950 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Abnormal diaphysis morphology, Micrognathia, High palate, Thin bony cortex, Overtubulated long bo... |
ORPHA:85184 |
Majeed Syndrome |
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Leukocytosis, Cachexia, Synovitis, Hypochromic microcytic anemia, Failure to thrive, Increased su... |
ORPHA:77297 |
Short Stature, Dauber-Argente Type |
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Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teeth, Reduced bone... |
OMIM:619489 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormal palate morphology, Crowded maxillary incisors, Micrognathia, Narrow palate, Cryptorchidi... |
ORPHA:2063 |
Tyrosinemia Type 1 |
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Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... |
OMIM:156530 |
Osteoporosis, Juvenile |
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Osteoporosis |
OMIM:259750 |
Metatropic Dysplasia |
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Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodactyly of finger,... |
ORPHA:2635 |
Pseudopseudohypoparathyroidism |
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Depressed nasal bridge, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypopla... |
OMIM:612463 |
Immunodeficiency 75 |
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Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Roifman Syndrome |
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Underdeveloped nasal alae, Delayed proximal femoral epiphyseal ossification, Hip contracture, Bro... |
ORPHA:353298 |
Immunodeficiency 38 With Basal Ganglia Calcification |
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Lymphadenopathy |
OMIM:616126 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Carious teeth, Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Osteopenia, Calvarial hyper... |
OMIM:612714 |
Ck Syndrome |
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Joint hypermobility, Slender build, Abnormal cortical bone morphology |
OMIM:300831 |
Gapo Syndrome |
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Thick lower lip vermilion, Hepatomegaly, Micrognathia, High, narrow palate, Depressed nasal bridg... |
OMIM:230740 |
Osteopetrosis, Autosomal Dominant 3 |
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Hepatomegaly, Premature loss of teeth, Anemia, Splenomegaly, Osteopenia, Gingivitis, Recurrent fr... |
OMIM:618107 |
Disorder Of Bile Acid Synthesis |
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Rickets |
ORPHA:79168 |
Glycoprotein Storage Disease |
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Gout, Splenomegaly |
OMIM:232900 |
Roifman Syndrome |
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Hepatomegaly, Underdeveloped nasal alae, Narrow nose, Hip contracture, Long philtrum, Lymphadenop... |
OMIM:616651 |
Mental Retardation, X-Linked 91 |
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High palate, Short nose, Small hand, Short 5th finger, Short foot, Clinodactyly, Macrodontia |
OMIM:300577 |
Buschke-Ollendorff Syndrome |
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Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... |
ORPHA:1306 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Hypodontia, Micrognathia, High palate, 2-3 toe syndactyly, Tapered finger, Short nose, Kyphosis, ... |
OMIM:617061 |
Peutz-Jeghers Syndrome |
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Abnormality of the gallbladder, Neoplasm of the nose, Biliary tract neoplasm, Pancreatic adenocar... |
ORPHA:2869 |
Hypotrichosis-Intellectual Disability, Lopes Type |
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Sparse hair, Advanced eruption of teeth |
ORPHA:2266 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absent tonsils, B lymphocytopenia, Sinusitis, Recurrent upper respiratory tract infections, Lymph... |
ORPHA:277 |
Gnathodiaphyseal Dysplasia |
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Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteopenia |
OMIM:166260 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Depressed nasal ridge, Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergro... |
OMIM:118651 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Taurodontism, Microdontia, And Dens Invaginatus |
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Dens in dente, Pulp calcification, Taurodontia, Microdontia |
OMIM:313490 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... |
OMIM:600081 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Primary Ciliary Dyskinesia |
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Asplenia, Chronic rhinitis, Chronic sinusitis, Clubbing, Nasal congestion, Nasal polyposis, Polys... |
ORPHA:244 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Lumbar platyspondyly, Increased intervertebral space, Depressed nasal bridge, Beaking of vertebra... |
OMIM:618961 |
Beemer-Ertbruggen Syndrome |
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Micrognathia, Wide nasal bridge, Deep philtrum, Bulbous nose, Increased bone mineral density, Thr... |
ORPHA:1237 |
Premature Aging Syndrome, Penttinen Type |
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Micrognathia, Narrow nose, Thin vermilion border, Prominent nasal bridge, Delayed eruption of tee... |
OMIM:601812 |
Bile Acid Conjugation Defect 1 |
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Rickets |
OMIM:619232 |
Mantle Cell Lymphoma |
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Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Hemifacial Atrophy, Progressive |
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Poliosis, Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion, ... |
OMIM:141300 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
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Hepatomegaly, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
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Delayed eruption of permanent teeth, Club-shaped distal femur, Metaphyseal dysplasia, Bony parana... |
OMIM:218400 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Diabetes Insipidus, Neurohypophyseal |
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Wide nose, Short nose, Osteopenia, Long philtrum |
OMIM:125700 |
Autosomal Recessive Primary Microcephaly |
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Abnormal cortical bone morphology |
ORPHA:2512 |
Craniometadiaphyseal Dysplasia |
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Carious teeth, High palate, Genu varum, Microdontia, Broad long bones, Mandibular prognathia, Scl... |
OMIM:269300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
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Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta |
OMIM:612529 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Genu varum, Neutropenia, Metaphyseal irregularity, Malar flattening, Short nose, Short dental roo... |
OMIM:271510 |
Cleft Lip/Palate |
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Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Failure to thrive, Rickets |
OMIM:602722 |
Ohdo Syndrome |
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Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Short ... |
OMIM:249620 |
Cleidocranial Dysplasia |
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Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... |
ORPHA:1452 |
Camurati-Engelmann Disease |
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Carious teeth, Cortical thickening of long bone diaphyses, Mandibular prognathia, Bone marrow hyp... |
OMIM:131300 |
Otodental Syndrome |
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Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
Cleidocranial Dysplasia |
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Cleft palate, Malar flattening, Aplastic clavicle, Absent frontal sinuses, Increased bone mineral... |
OMIM:119600 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytos... |
OMIM:615631 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Squamous Cell Carcinoma Of The Esophagus |
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Lymphadenopathy |
ORPHA:99977 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Cernunnos-Xlf Deficiency |
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B lymphocytopenia, Convex nasal ridge, Anemia, Bulbous nose, Lymphopenia, Thrombocytopenia, T lym... |
ORPHA:169079 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
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Short nose, Microretrognathia, Long philtrum |
OMIM:218010 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacar... |
OMIM:614078 |
Ramon Syndrome |
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Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Generalized hirsutis... |
ORPHA:3019 |
Hall-Riggs Syndrome |
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Prominent nose, Wide mouth, Abnormality of epiphysis morphology, Abnormal dental enamel morpholog... |
ORPHA:2107 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta |
OMIM:617217 |
Mucopolysaccharidosis, Type Iva |
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Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Scoliosis, Widely... |
OMIM:253000 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Hepatomegaly, Epiphyseal stippling, Glossoptosis, Elevated circulating aspartate aminotransferase... |
OMIM:614876 |
Neonatal Severe Primary Hyperparathyroidism |
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Hepatomegaly, Recurrent fractures, Abnormality of the metaphysis, Splenomegaly |
ORPHA:417 |
Brachydactyly, Type E1 |
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Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Multiple impacted teeth, Type... |
OMIM:113300 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Short nose, Malar flattening, Prominent calcaneus, Toe clinodactyly, Limited elbow extension, Sho... |
ORPHA:457395 |
Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... |
OMIM:305620 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... |
OMIM:611590 |
Mucopolysaccharidosis, Type Ivb |
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Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Scoliosis, Widely... |
OMIM:253010 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer |
OMIM:618852 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Ectopic ossification in muscle tissue, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:337 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Hypoplasia of the femoral head, Lym... |
OMIM:209950 |
Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shaped epiphyses of ... |
OMIM:190350 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infe... |
OMIM:613101 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Delayed eruption of permanent teeth, Short middle phalanx of finger,... |
OMIM:113000 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Dental crowding, Depressed nasal bridge, Long philtrum, Cleft soft palate, Broad th... |
OMIM:616331 |
Lichtenstein Syndrome |
|
Carious teeth, Neutropenia, Ulnar deviation of finger, Increased susceptibility to fractures, Ost... |
OMIM:246550 |
Non-Distal Trisomy 10Q |
|
Micrognathia, High palate, Depressed nasal bridge, Convex nasal ridge, Short nose, Everted lower ... |
ORPHA:1695 |
Temple-Baraitser Syndrome |
|
Malar flattening, Delayed eruption of teeth, Long hallux, Anteverted nares, Thick nasal alae, Eve... |
ORPHA:420561 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Small epiphyses, Depressed nasal bridge, Proximal femoral epiphysiolysis, Narrow pelvis bone, Cra... |
OMIM:616723 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Toe syndactyly, High palate, Depressed nasal bridge, Open bite, Mandibular prognat... |
ORPHA:1327 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... |
ORPHA:93314 |
Camurati-Engelmann Disease |
|
Carious teeth, Abnormality of the vertebral column, Abnormality of the ulna, Metaphyseal dysplasi... |
ORPHA:1328 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets |
OMIM:613388 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, High palate, Ascites, Vacuolated lymphocytes, Metaphyseal irregularity, Gingival ov... |
OMIM:269920 |
Grant Syndrome |
|
Decreased skull ossification, Abnormal cortical bone morphology, Joint hyperflexibility |
ORPHA:2097 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Recurrent bronchitis, Lymphadenopathy, Splenomegaly, Autoimmune thro... |
OMIM:300853 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Micromelia |
OMIM:273680 |
Ollier Disease |
|
Lymphangioma, Anemia, Platyspondyly, Abnormality of the metaphysis, Multiple enchondromatosis, Ab... |
ORPHA:296 |
Pai Syndrome |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Nasal polyp... |
ORPHA:1993 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, High palate, Abnormality of the philtrum, Long eyelashes, Delayed eruption of teeth... |
ORPHA:2863 |
Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... |
OMIM:177170 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta |
OMIM:301200 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... |
OMIM:617514 |
Gorham-Stout Disease |
|
Abnormality of ethmoid bone, Abnormality of femur morphology, Osteolysis involving bones of the l... |
ORPHA:73 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly, Wide nasal bridge, Epiphyseal stippling |
OMIM:614870 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Hip dysplasia, Narrow nasal bridge, Flexion contracture, Scoliosis |
OMIM:618379 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated... |
ORPHA:79301 |
Peutz-Jeghers Syndrome |
|
Nasal polyposis, Iron deficiency anemia, Labial melanotic macule, Neoplasm of the pancreas, Clubb... |
OMIM:175200 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Prominent nasal tip, 2-3 toe syndactyly, High palate, Depressed nasal bridge, Hip contracture, Wi... |
OMIM:616809 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Hepatosplenomega... |
OMIM:618982 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... |
OMIM:237800 |
Catifa Syndrome |
|
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... |
OMIM:618761 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... |
ORPHA:98848 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Eosinophilia, Nasal polyposis, Arthritis |
ORPHA:183 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion |
OMIM:130900 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio acetabuli,... |
OMIM:259600 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Micrognathia, Median cleft lip and palate, Mandibular aplasia, Short nose,... |
ORPHA:1832 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent cutaneous abscess formation |
ORPHA:499 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Hypodontia, Micrognathia, Wide nose, Thin vermilion border, Prominent ... |
ORPHA:94063 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormality of the vertebral column, Club-shaped distal femur, Bony paranasal bossing, Mandibular... |
OMIM:123000 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:1486 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Depressed nasal bridge, Long philtrum, Abnormality of epiphysis morphology, Bowing ... |
ORPHA:50945 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Mandibular prognathia, Wide nose, Abnormal form of the vertebral bodies, S... |
ORPHA:2831 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Sparse eyelashes, Cranial hyperostosis, Oligodontia, Sparse and thin eyebrow, Sparse ... |
OMIM:601345 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Postaxial polydactyly, Broa... |
OMIM:615761 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Abnormality of the vertebral column, Depressed nasal bridge, Epiphyseal stippling, Short nose, Sh... |
OMIM:302950 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal palate morphology, Micrognathia, Convex nasal ridge, Mesomelia, Tooth agenesis, Brachyda... |
ORPHA:1277 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Depressed nasal bridge, Long philtrum, Short nose, Dee... |
ORPHA:261120 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Anemia, Osteolysis |
ORPHA:158014 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Long philtrum, Short nose, Splenomegaly, Lymphopenia |
OMIM:605309 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Broad nasal tip, Short philtrum, Anemia, Prominent nasal... |
ORPHA:52022 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Aarskog-Scott Syndrome |
|
Cleft palate, Long philtrum, Cleft upper lip, Abnormal vertebral segmentation and fusion, Small h... |
ORPHA:915 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Immunodeficiency 33 |
|
Hypodontia, Delayed eruption of teeth, Conical tooth |
OMIM:300636 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia, Abnormality of the mouth |
OMIM:162800 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... |
OMIM:241530 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, High palate, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Retr... |
OMIM:618393 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... |
OMIM:616221 |
Ameloonychohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... |
OMIM:104570 |
Sandhoff Disease |
|
Hepatomegaly, Kyphosis, Splenomegaly |
ORPHA:796 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Bulbo... |
OMIM:170390 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Splenomegaly, Osteopenia, Rickets |
OMIM:211600 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Long philtrum, Macroglossia, Wide nasal base, Delayed eruption of teeth, Clinodactyl... |
OMIM:616354 |
Lipoid Proteinosis |
|
Thick lower lip vermilion, High palate, Tongue nodules, Abnormality of the gingiva, Microglossia,... |
ORPHA:530 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
OMIM:300554 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Depressed nasal bridge, Diaphyseal sclerosis, Delayed... |
ORPHA:94089 |
Zimmermann-Laband Syndrome 3 |
|
Thick lower lip vermilion, High palate, Triphalangeal thumb, Broad nasal tip, Gingival overgrowth... |
OMIM:618658 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... |
ORPHA:289176 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Hypoplasia... |
ORPHA:363417 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Depressed nasal bridge, Wide mouth, Ascites, Long philtrum, Short nose, Kyphosis, H... |
OMIM:608776 |
Raine Syndrome |
|
Cleft palate, Short nose, Malar flattening, Long hallux, Increased bone mineral density, Choanal ... |
OMIM:259775 |
Shashi-Pena Syndrome |
|
Broad nasal tip, Osteoporosis, Kyphosis, Retrognathia, Scoliosis |
OMIM:617190 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Abnormal respiratory motile cilium morphology, Sinusitis, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:242680 |
Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Cleft palate, Neutropenia, Genu varum, Leukemia, Abnormal dental enamel morphology... |
ORPHA:221016 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Anemia, Congenital hip dislocation, Delayed eruption of teeth |
OMIM:614450 |
Aplasia Cutis Congenita |
|
Abnormality of bone mineral density |
ORPHA:1114 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Delayed eruption... |
ORPHA:508542 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density |
OMIM:239000 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Epiphyseal dysplasia, Hip subluxation, Carpal bone hypoplasia, Con... |
OMIM:226980 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cone-shaped epiphysis, Short nose, Small hand, Delayed epiphyseal ossification, Osteoarthritis, B... |
OMIM:618618 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Nail dystrophy, Hypohidrosis, Hypoplastic sweat glands, Natal tooth |
OMIM:617337 |
3M Syndrome |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Bulbous nose, Anteverted nares, Hyp... |
ORPHA:2616 |
Carpenter Syndrome 1 |
|
Genu varum, Malar flattening, Joint contracture of the hand, Deviation of finger, Shallow acetabu... |
OMIM:201000 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth, Abnormal eyebrow morphology, Generalized hirsutism, Decrea... |
ORPHA:1816 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture |
OMIM:179800 |
Pierpont Syndrome |
|
Widely spaced teeth, Smooth philtrum, Broad nasal tip, Long upper lip, Short finger, Wide nose, S... |
OMIM:602342 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Nasal polyposis, Bifid uvula |
OMIM:155145 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short philtrum, Wide mouth, Mandibular prognathia, Short nose, Kyphosis, Everted lower lip vermil... |
ORPHA:2429 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Spinal canal stenosis, Wide mouth, Abnormality of epiphysis morphology, Bowing of ... |
ORPHA:582 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Long fingers, Short nose, Malar flattening, Proximal placement of thumb, Hip disl... |
OMIM:613458 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Cyclic Neutropenia |
|
Sinusitis, Premature loss of permanent teeth, Peritonitis, Lymphadenopathy, Periodontitis, Perian... |
ORPHA:2686 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Recurrent fractures, Os... |
ORPHA:93160 |
Terminal Osseous Dysplasia |
|
Cleft palate, Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening... |
OMIM:300244 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Hypohidrosis |
OMIM:615328 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Anodontia, Kyphoscoliosis, Supernumerary tooth, Wide nasal base, Delay... |
OMIM:264475 |
Mesomelic Limb Shortening And Bowing |
|
Micrognathia, Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortenin... |
OMIM:249710 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe |
OMIM:618453 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Cleft palate, Smooth philtrum, Pierre-Robin sequence, High palate, Butterfly verteb... |
OMIM:611209 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Malar flattening, Os... |
OMIM:130060 |
Leishmaniasis |
|
Hepatomegaly, Abnormal oral cavity morphology, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Spl... |
ORPHA:507 |
Ciliary Dyskinesia, Primary, 5 |
|
Sinusitis, Recurrent bronchitis, Rhinitis, Nasal polyposis, Recurrent sinusitis |
OMIM:608647 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Short nose, Cervical spi... |
ORPHA:508533 |
Marshall-Smith Syndrome |
|
Increased susceptibility to fractures, Craniosynostosis, Gingival overgrowth, Bowing of the long ... |
ORPHA:561 |
Achondrogenesis |
|
Micrognathia, Long philtrum, Abnormality of bone mineral density, Short nose, Anteverted nares, S... |
ORPHA:932 |
Tetrasomy 12P |
|
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Abnormal soft palate morphol... |
ORPHA:884 |
Otopalatodigital Syndrome Type 2 |
|
Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Increased bone mi... |
ORPHA:90652 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Short nose, Thick upper lip ve... |
OMIM:612563 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Osteomalacia, Tooth abscess, Rickets |
ORPHA:89937 |
Acrocraniofacial Dysostosis |
|
Abnormality of the vertebral column, Metatarsus adductus, Micrognathia, Cleft palate, Short philt... |
OMIM:201050 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Subperiosteal bone formation |
OMIM:609993 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta |
OMIM:615905 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, P... |
OMIM:224120 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Reduced bone ... |
ORPHA:848 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Recurrent aphthous stomatitis |
OMIM:611762 |
Achondrogenesis Type 1A |
|
Micrognathia, Long philtrum, Short nose, Recurrent fractures, Short foot, Short palm, Anteverted ... |
ORPHA:93299 |
Sponastrime Dysplasia |
|
Neutropenia, Metaphyseal irregularity, Short nose, Obtuse angle of mandible, Short dental root, S... |
ORPHA:93357 |
Pitt-Hopkins Syndrome |
|
Abnormal palate morphology, Short philtrum, Wide mouth, Failure of eruption of permanent teeth, T... |
ORPHA:2896 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Chronic rhinitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Stickler Syndrome Type 1 |
|
Cleft palate, Long philtrum, Abnormality of epiphysis morphology, Short nose, Platyspondyly, Join... |
ORPHA:90653 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Posterior wedging of vertebral bodies, Smooth philtrum, High palate, Microdontia, ... |
ORPHA:50814 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Short middle phalanx of finger, Neutropenia, Radial deviation of finger, Short foot... |
OMIM:251190 |
Rothmund-Thomson Syndrome |
|
Carious teeth, Neutropenia, Leukemia, Aplasia/Hypoplasia of the radius, Abnormal dental enamel mo... |
ORPHA:2909 |
Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, High palate, Cleft palate, Triphalangeal thumb, Depressed nasal bridge, Abnormality... |
ORPHA:3098 |
Distal Trisomy 18Q |
|
Carious teeth, Micrognathia, High palate, Short nose, Progressive intervertebral space narrowing,... |
ORPHA:1716 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Widely spaced teeth, Hepatomegaly, High palate, Hepatic fibrosis, Microdontia, Wide mouth, Macrog... |
OMIM:266920 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Smooth philtrum, Short nose, Thin upper lip vermilion, Scoliosis, Joint laxity |
OMIM:618218 |
Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Scoliosis, Kyphosis |
OMIM:611225 |
Congenital Atransferrinemia |
|
Anemia, Arthritis, Abnormality of the pancreas |
ORPHA:1195 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Micrognathia, Flexion contracture of toe, Abnormality of epiphysis morphology, Ab... |
ORPHA:3409 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... |
OMIM:204650 |
Melnick-Needles Syndrome |
|
Micrognathia, Short clavicles, Abnormality of the pubic bone, Bowing of the long bones, Tooth mal... |
ORPHA:2484 |
Amelogenesis Imperfecta, Type Iiic |
|
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... |
OMIM:618386 |
Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Abnormality of the dentition, Short nail, Premature eruption of ... |
ORPHA:1811 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Sinusitis, Neutropenia, Pancreatic hypoplasia, Leukemia, Metaphyseal irregularity,... |
ORPHA:811 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Ciliary Dyskinesia, Primary, 22 |
|
Sinusitis, Rhinitis, Absent inner and outer dynein arms, Nasal polyposis, Recurrent sinusitis |
OMIM:615444 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Cleft palate, Wide mouth, U-Shaped upper lip vermilion, Tapered finger, Short finger... |
OMIM:300209 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares |
ORPHA:1355 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... |
OMIM:271630 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Depressed nasal bridge, Short nose, Retrognathia, Anteverted nares |
OMIM:614069 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Sclerotic scapulae, Absen... |
OMIM:601376 |
Ophthalmomandibulomelic Dysplasia |
|
Abnormality of bone mineral density, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the... |
ORPHA:2741 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Tapered finger, Max... |
OMIM:300602 |
Chst3-Related Skeletal Dysplasia |
|
Irregular epiphyses, Intervertebral space narrowing, Small epiphyses, Long philtrum, Kyphoscolios... |
ORPHA:263463 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Neutropenia, Synovitis, Lymphadenopathy, Rhinitis, Abnormal lymphocyte m... |
ORPHA:47612 |
Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... |
ORPHA:439822 |
X-Linked Hypophosphatemia |
|
Genu varum, Rickets, Reduced bone mineral density, Odontodysplasia, Bowing of the legs, Flared il... |
ORPHA:89936 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Ri... |
OMIM:277440 |
Ciliary Dyskinesia, Primary, 35 |
|
Chronic rhinitis, Nasal polyposis, Chronic sinusitis |
OMIM:617092 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Depressed nasal ridge, Micrognathia, Ascites, Anemia, Thin vermilion border, Sandal gap, Splenome... |
ORPHA:1046 |
Hurler Syndrome |
|
C1-C2 subluxation, Splenomegaly, Hepatosplenomegaly, Anteverted nares, Calvarial hyperostosis, En... |
OMIM:607014 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Micrognathia, Long philtrum, Short nose, Wide nasal bridge, Clinodactyly, Unilambdoid synostosis,... |
OMIM:618577 |
Coffin-Lowry Syndrome |
|
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Brachydactyly, Anteverted nares... |
ORPHA:192 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Cleft palate, Craniosynostosis, Wide nasal bridge, Delayed eruption of teeth, Osteo... |
ORPHA:2314 |
Three M Syndrome 2 |
|
Prominent nasal tip, High palate, Depressed nasal bridge, Long philtrum, Malar flattening, Promin... |
OMIM:612921 |
Pfapa Syndrome |
|
Hepatomegaly, Abnormal oral cavity morphology, Lymphadenopathy, Arthritis, Splenomegaly, Recurren... |
ORPHA:42642 |
Specific Granule Deficiency 2 |
|
Neutropenia, Absent neutrophil specific granules, Tooth malposition, Anemia, Amelogenesis imperfe... |
OMIM:617475 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:614832 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Ciliary Dyskinesia, Primary, 42 |
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Chronic rhinitis, Nasal polyposis, Recurrent sinusitis |
OMIM:618695 |
Babesiosis |
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Hepatomegaly, Leukopenia, Clinodactyly of the 5th toe, Splenomegaly, Hepatic failure, Limitation ... |
ORPHA:108 |
Burkitt Lymphoma |
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Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... |
ORPHA:543 |
Acrocraniofacial Dysostosis |
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Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Short 1st metacarpal, A... |
ORPHA:949 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
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Oligodontia, Tapered finger, Wide nose, Kyphosis, Everted lower lip vermilion, Scoliosis, Anodontia |
ORPHA:276630 |
Sialidosis Type 2 |
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Hepatomegaly, Ascites, Osteoporosis, Kyphosis, Splenomegaly, Flexion contracture |
ORPHA:87876 |
Elsahy-Waters Syndrome |
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Thick lower lip vermilion, Abnormality of the vertebral column, High palate, Long philtrum, Mandi... |
OMIM:211380 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Verheij Syndrome |
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Vertebral fusion, Hemivertebrae, Long philtrum, Short nose, Wide nasal bridge, Clinodactyly, Shor... |
OMIM:615583 |
Immunodeficiency 15A |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Laron Syndrome |
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Depressed nasal ridge, Micrognathia, Microdontia, Delayed eruption of teeth, Aplasia/Hypoplasia i... |
ORPHA:633 |
Ring Chromosome 8 Syndrome |
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Deviation of finger, Abnormal palate morphology, Short nose, Anteverted nares |
ORPHA:1450 |
Dyssegmental Dysplasia With Glaucoma |
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Cleft palate, Broad long bones, Hip contracture, Malar flattening, Delayed epiphyseal ossificatio... |
OMIM:601561 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... |
OMIM:264700 |
Lymphoproliferative Syndrome 3 |
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Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Farber Lipogranulomatosis |
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Hepatomegaly, Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Lipogranulomatosis... |
OMIM:228000 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Micrognathia, Convex nasal ridge, Abnormal reticulocyte morphology, Kyphosis, Fused cervical vert... |
ORPHA:2522 |
Bare Lymphocyte Syndrome, Type I |
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Chronic sinusitis, Nasal polyposis, Recurrent bronchitis |
OMIM:604571 |
Achondrogenesis Type 1B |
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Micrognathia, Long philtrum, Short nose, Short foot, Anteverted nares, Short neck, Abnormal encho... |
ORPHA:93298 |
Bone Dysplasia, Lethal Holmgren Type |
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Hepatomegaly, Depressed nasal ridge, Metaphyseal dysplasia, Abnormality of femur morphology, Abno... |
ORPHA:1842 |
Cog7-Cdg |
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Hepatomegaly, Micrognathia, Adducted thumb, Long fingers, Abnormality of finger, Hepatosplenomega... |
ORPHA:79333 |
Smith-Mccort Dysplasia 1 |
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Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplastic scapulae, Beaking of verte... |
OMIM:607326 |
Bruck Syndrome 1 |
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Ankle flexion contracture, Hip contracture, Vertebral wedging, Increased susceptibility to fractu... |
OMIM:259450 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Gamma-Heavy Chain Disease |
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Neoplasm of the tongue, Hepatomegaly, Abnormal palate morphology, Lymphadenopathy, Abnormal lymph... |
ORPHA:100026 |
Mast Cell Sarcoma |
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Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Niemann-Pick Disease, Type B |
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Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |