Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Torus palatinus, Calvarial osteoscler... |
OMIM:607634 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... |
OMIM:259710 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... |
ORPHA:2790 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Cari... |
OMIM:259700 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... |
OMIM:136300 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Epiphyseal stippling, High palate, Micrognathia, Hepatomegaly |
OMIM:614882 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Micrognathia, Tooth agenesis, Multiple unerupted teeth, Abnormal bone ossification |
ORPHA:2645 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... |
OMIM:259730 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... |
OMIM:144750 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Osteopetrosis |
OMIM:618541 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... |
ORPHA:2780 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Eiken Syndrome |
|
Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio... |
OMIM:600002 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Short philtrum |
ORPHA:71267 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... |
ORPHA:37748 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ... |
OMIM:619322 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... |
OMIM:122860 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Delayed eruption of teeth, Reduced bone mineral density |
OMIM:619489 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Microgn... |
OMIM:259720 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Familial Expansile Osteolysis |
|
Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cortex, Fragile teeth |
OMIM:174810 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Epiphyseal... |
OMIM:614876 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Craniosynostosis, Abnormality of the dentition, Osteoporosis, ... |
ORPHA:1515 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... |
ORPHA:882 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... |
ORPHA:3019 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... |
ORPHA:3238 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Micrognathia, Generalized osteosclerosis, Advanced ossification of carpal bones, A... |
OMIM:215045 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene... |
ORPHA:166277 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,... |
OMIM:618107 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... |
ORPHA:2769 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... |
OMIM:612714 |
Desmosterolosis |
|
Increased bone mineral density, Micrognathia, Splenomegaly, Submucous cleft hard palate, Cleft pa... |
ORPHA:35107 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia |
OMIM:109130 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612301 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Limitation of joint mobility, Hypoplastic frontal sinuses, Cleft ... |
ORPHA:90650 |
Proteus Syndrome |
|
Splenomegaly, Open mouth, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Facial h... |
OMIM:176920 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal... |
OMIM:618476 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia |
ORPHA:100024 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ... |
ORPHA:53 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Recurrent fractures, Craniosynostosis, Premature loss of... |
ORPHA:667 |
Ck Syndrome |
|
Dental crowding, Micrognathia, Retrognathia, High palate, Malar flattening, Abnormal cortical bon... |
OMIM:300831 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Craniosynostosis, Recurrent fractures, Persistence of primary teeth, Hi... |
OMIM:147060 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Recurrent fractures, Micrognathia, Persistence of primary teeth, Thro... |
ORPHA:2785 |
Pycnodysostosis |
|
Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima... |
ORPHA:763 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract ... |
ORPHA:79301 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density |
ORPHA:172 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:614727 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Deep philtrum, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology... |
ORPHA:1133 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility, Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Lymphangioma, Osteolysis i... |
ORPHA:73 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612463 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, High, n... |
ORPHA:2658 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... |
ORPHA:2063 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, High palate, ... |
ORPHA:85184 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Osteo... |
ORPHA:137834 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology |
OMIM:217150 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Decreased calvarial ossificat... |
OMIM:614592 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Dentinogenesis im... |
OMIM:619795 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... |
OMIM:618761 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:1798 |
Grant Syndrome |
|
Micrognathia, Open bite, Decreased skull ossification, Joint hyperflexibility, Abnormal cortical ... |
ORPHA:2097 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Delayed eruption of permanent teeth |
OMIM:112350 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Limited knee flexion, Capitate-hamate fusion, Absent frontal sinuses, C... |
OMIM:311300 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Craniosyno... |
OMIM:166250 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti... |
OMIM:131300 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Premature loss ... |
ORPHA:85188 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... |
OMIM:614856 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Cleft palate, Downturned corners of mouth, Delayed ... |
ORPHA:163649 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Cleft palate, Reduced bone mineral density, Leukopen... |
OMIM:620210 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, M... |
OMIM:224300 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Cleft palate, Abnorma... |
ORPHA:2635 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Sclerosis of skul... |
OMIM:269300 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ... |
OMIM:619718 |
Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Abnormal cortical bone morphology |
ORPHA:2512 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Dental crowding, Micrognathia, Persistence of primary teeth, Thick lower lip vermil... |
OMIM:618342 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Camptodactyly of finger, Dental malocclusion... |
OMIM:612350 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, High palate... |
OMIM:616354 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Gingival overgrowth, Hepatos... |
ORPHA:313855 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Gapo Syndrome |
|
Hepatomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Lon... |
OMIM:230740 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Flexion contracture, Osteoporosis, Elbow ... |
OMIM:214150 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Micrognathia, Joint stiffness, Cleft pal... |
ORPHA:628 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros... |
OMIM:218400 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Open bite, Splenomegaly, Dental m... |
ORPHA:61 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Osteoporosis, Portal fibrosis, Hepatic f... |
ORPHA:369 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica... |
ORPHA:2563 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth... |
OMIM:269920 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Hemifacial Atrophy, Progressive |
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Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ... |
ORPHA:476126 |
Congenital Disorder Of Glycosylation, Type Ik |
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Hepatomegaly, Micrognathia, Splenomegaly, Flexion contracture, Thin vermilion border, Joint contr... |
OMIM:608540 |
Cranioectodermal Dysplasia 4 |
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Joint hypermobility, Sagittal craniosynostosis, Thin vermilion border, Taurodontia, Bone marrow h... |
OMIM:614378 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Epiphyseal stippling, Decreased liver function, Hepatomegaly |
OMIM:614870 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Temple-Baraitser Syndrome |
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Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia |
OMIM:608971 |
Lethal Congenital Contracture Syndrome Type 1 |
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Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures, Micrognathia |
ORPHA:1486 |
Autosomal Recessive Hypophosphatemic Rickets |
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Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Eiken Syndrome |
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Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Enamel hypoplasia, Hypoplast... |
OMIM:253250 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ... |
OMIM:264700 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia |
OMIM:601345 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Delayed eruption of teeth, Thin upper lip vermilion, Ivory epiphyses of the distal ph... |
OMIM:190350 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Cardiomegaly, Hypoplasia of the maxilla, Carious teeth, Ost... |
OMIM:182250 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... |
OMIM:211600 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Abnormal... |
ORPHA:1775 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosi... |
ORPHA:2314 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susc... |
ORPHA:289157 |
12Q14 Microdeletion Syndrome |
|
Micrognathia, Abnormality of the spleen, Osteopoikilosis, Downturned corners of mouth, Thin vermi... |
ORPHA:94063 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Micrognathia, Protruding tong... |
OMIM:259775 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Osteoporosis, Delayed ossification of carpal bones, Long philtrum, Den... |
OMIM:184260 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Osteolytic defects of the pha... |
ORPHA:2484 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Increased bone d... |
ORPHA:94089 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho... |
ORPHA:59303 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... |
OMIM:228000 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Recurrent fractures, Abnormal dental... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Micrognathia, Abnormality of the dentition, ... |
OMIM:617952 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Prematu... |
OMIM:239000 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Abnormality of the abdomin... |
ORPHA:2409 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Subcutaneous ossification, Osteoporosis |
OMIM:103580 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Osteoporosis, Ascites |
ORPHA:87876 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Recurrent fractures |
ORPHA:417 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... |
OMIM:620099 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hepatoblastoma |
OMIM:175100 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Delayed eruption of teeth, Interphalangeal joint contracture of fing... |
OMIM:259600 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis |
OMIM:618234 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Thick lower lip vermilion, Wi... |
OMIM:619797 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Dental crowding, Cranial hyperostosis, Sclerosis of skull base, Tooth malp... |
OMIM:123000 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Osteoarthritis, Tooth agenesis, Microdontia |
ORPHA:633 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Cleft palate, Carpa... |
OMIM:272460 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dental crowding, Micrognathia, Elevated circulating ... |
OMIM:615381 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:733 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia |
OMIM:618205 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, Epiphyseal stippling, High palate, Long philtrum |
OMIM:614872 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Abnormal oral cavity morphology |
ORPHA:42642 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Microg... |
OMIM:301045 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental... |
ORPHA:1327 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Hypoplasia of the maxilla, A... |
ORPHA:915 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic anemia, Sele... |
ORPHA:2909 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612462 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,... |
ORPHA:53715 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... |
OMIM:119600 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Splenomegaly, Periostitis, Osteolysis, Fus... |
OMIM:612852 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Downturned corners of mouth, Epiphyseal stippling, Smooth philtrum |
ORPHA:251009 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Osteoporosis, Micrognathia |
ORPHA:73272 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Protruding tongue, Splenomegaly, Gingival overgrowth, Sea-blue his... |
OMIM:230600 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi... |
ORPHA:819 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick ... |
OMIM:614608 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Camptodactyly of finger, Abnormal dental enamel morpholo... |
ORPHA:2710 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Anemia, Persistence of primary teeth |
ORPHA:375 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple u... |
ORPHA:79665 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Anemia |
OMIM:614450 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Hepatomegaly, Thin upper lip vermilion, Elevated hepatic transaminase, Micrognathia, ... |
ORPHA:329178 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Micrognathia, Hypopla... |
ORPHA:90652 |
Pitt-Hopkins Syndrome |
|
Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permanent teeth, Tooth... |
ORPHA:2896 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Reduced bone mineral density |
ORPHA:834 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Extrahe... |
ORPHA:1458 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Osteo... |
ORPHA:77261 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cle... |
OMIM:607812 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Epiphysea... |
ORPHA:950 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Ost... |
ORPHA:139507 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala... |
ORPHA:50945 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Felty Syndrome |
|
Hepatomegaly, Sinusitis, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis... |
ORPHA:47612 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sagittal craniosynostosis, Micrognathia |
OMIM:616901 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Flexion contracture, Wide... |
ORPHA:90322 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Abnormality of the dentition, Micrognat... |
ORPHA:2323 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... |
OMIM:619752 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent ... |
ORPHA:355 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Dense calvaria |
OMIM:252920 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Enamel hypoplasia, Cleft palate, Taurod... |
OMIM:164200 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decrea... |
ORPHA:99742 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Osteoporosis |
OMIM:601979 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... |
OMIM:614607 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Symphalangism of the 5th finger, Thick verm... |
ORPHA:46627 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... |
ORPHA:2712 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... |
ORPHA:2107 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Prominence of the premaxilla, Hepatic failure, Cholelithiasis, Abn... |
OMIM:614886 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Hepatomegaly |
OMIM:614859 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Osteoporosis, Malar flattening |
OMIM:266510 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cirrhosis,... |
OMIM:235200 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrogna... |
OMIM:619269 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... |
OMIM:129400 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Thin vermilion border, Long philtr... |
OMIM:241410 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ... |
OMIM:145420 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis... |
ORPHA:2796 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Flexion contracture, Thick lower lip vermi... |
OMIM:309900 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Advanced eruption of teeth, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Thrombo... |
ORPHA:2905 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Everted lower lip vermilion, Dense calvaria |
OMIM:252930 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Camptodactyly of finger, Cran... |
ORPHA:2136 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Abnormal primary molar morphology, Decreased proportion of naive CD8 T cells, A... |
ORPHA:1830 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Narrow mouth, ... |
OMIM:235510 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic anemia, Abno... |
ORPHA:221016 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leu... |
ORPHA:811 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,... |
ORPHA:397596 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Joint contracture of the hand, Delayed eruption of permanent teeth, Camptodactyly |
OMIM:113000 |
Prolidase Deficiency |
|
Hepatomegaly, Micrognathia, Carious teeth, Splenomegaly, Reduced bone mineral density, Hypoplasia... |
ORPHA:742 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hepatomegaly, Carious teeth, Splenomegaly, Craniofacial osteosclerosis... |
ORPHA:1328 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Dense calvaria, Joint stiffness |
OMIM:252900 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat... |
ORPHA:3473 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Pursed lips, Shou... |
ORPHA:800 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Neoplasm of the oral cavity, Joint stiffness |
ORPHA:902 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Recurrent fractures, Abnormality of the dentition, Generalized ost... |
ORPHA:416 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... |
OMIM:256550 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Desmosterolosis |
|
Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowth, Cleft palate, Gingival fibro... |
OMIM:602398 |
Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... |
OMIM:201000 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Everted l... |
ORPHA:2067 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic anemia, Abno... |
ORPHA:221008 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Micrognathia, Pancreatitis, Splenomegaly, Osteolytic defects of the phalanges of th... |
ORPHA:280365 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Osteolysis, Pa... |
OMIM:263700 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Abnormally ossified vertebrae, Micrognathia |
ORPHA:3035 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrh... |
OMIM:301072 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate... |
ORPHA:2108 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Chronic neutropenia, Carious teeth, Osteoporosis, Hepatocellular adenom... |
ORPHA:79259 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Abnormal z... |
ORPHA:249 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Ectopic ossification, Increased bone mineral density, Enamel hypoplasia |
ORPHA:79444 |
Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology, Anemia |
ORPHA:3344 |
Triploidy |
|
Hepatomegaly, Micrognathia, Abnormality of the pancreas, Non-midline cleft lip, Abnormality of th... |
ORPHA:3376 |
Sclerosteosis 1 |
|
Mandibular prognathia, Sclerotic scapulae, Dental malocclusion, Facial palsy secondary to cranial... |
OMIM:269500 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Decrease... |
ORPHA:93325 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Micrognathia, Cleft palate, Short philtrum, Advanced eruption of teeth |
ORPHA:949 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Thin bony cortex, Hyper... |
OMIM:612731 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, He... |
OMIM:618549 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Hyperostosis, Hepatic hemangioma, Abno... |
ORPHA:73230 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hyp... |
OMIM:170390 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis |
OMIM:611762 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, O... |
ORPHA:534 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, High pa... |
ORPHA:85212 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... |
OMIM:607626 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Taurodontia, Abnormality of the denti... |
ORPHA:3220 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Osteoporosis... |
OMIM:268400 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Recurrent fractures, Micrognathia, Hypoplasia of the maxilla, Narrow p... |
OMIM:601812 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Neonatal epiphyseal ... |
OMIM:101800 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Hepatomegaly, Dental crowding, Joint stiffness, Micrognathia, Flexion contracture, El... |
OMIM:248370 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Recurrent fractures, Micrognathia, ... |
ORPHA:2050 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral density, Hyperost... |
ORPHA:79443 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Joint stiffness, Abnormality of the dentition, Splenomegaly,... |
ORPHA:93 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... |
OMIM:602080 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Micrognathia, Flexion contracture, Wide mouth, Camptodactyly, Retrogn... |
OMIM:604273 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Protruding tongue, Persistence ... |
OMIM:610253 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,... |
OMIM:613101 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... |
OMIM:619148 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Hepatomegaly, Mandibular prognathia, Grayish enamel, Carious teeth, Osteoporosis, W... |
OMIM:253000 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow moveme... |
OMIM:101200 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,... |
OMIM:309583 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contractures of th... |
ORPHA:96092 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Micrognathia, Generalized joint laxity, Decreased calvarial ossificatio... |
OMIM:613848 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Reduced bo... |
ORPHA:1451 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Abdominal adhesions, Neutropenia, Eclabion, Lymphopenia |
OMIM:616395 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Abnormal... |
ORPHA:3206 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Hepatomegaly, Bone cyst, Macroglossia, Cirrhosis, Hepatic steatosis |
ORPHA:528 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... |
ORPHA:507 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl... |
OMIM:615122 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Thin upper lip vermilion, Sagittal craniosynostosis, Portal hypertensio... |
OMIM:610199 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Hepatomegaly, Mandibular prognathia, Joint stiffness, Grayish enamel, Carious teeth... |
OMIM:253010 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Dental crowding, Micrognathia,... |
ORPHA:96170 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Osteolysis, Anemia |
ORPHA:35687 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Recon Progeroid Syndrome |
|
Joint laxity, Smooth philtrum, Prominence of the premaxilla, Dental crowding, Anemia, Thin vermil... |
OMIM:620370 |
Scheie Syndrome |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide mouth, Everted lo... |
ORPHA:93474 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... |
OMIM:300373 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... |
OMIM:617237 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Osteoporosis, Rickets |
OMIM:560000 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal mandible morphology, Cle... |
ORPHA:2215 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Short Syndrome |
|
Joint laxity, Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of... |
OMIM:269880 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Joint stiffness, Splenomegal... |
ORPHA:465508 |
Lead Poisoning |
|
Delayed eruption of teeth, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell... |
ORPHA:330015 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Foot joint contracture, Delay... |
ORPHA:90321 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Flexion contracture, Long philtrum |
ORPHA:263463 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... |
OMIM:617865 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Deep philtrum... |
OMIM:606003 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia... |
ORPHA:444072 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Thin vermilion border |
OMIM:602557 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Abnormality of the pancreas, Oligodontia... |
ORPHA:2315 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... |
ORPHA:729 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Sotos Syndrome |
|
Joint laxity, Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, High palate,... |
OMIM:117550 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Hyperostosis |
ORPHA:2969 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Emanuel Syndrome |
|
Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p... |
OMIM:609029 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Hepatomegaly, Delayed eruption of... |
OMIM:135500 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint hyperflexibility, Everted low... |
ORPHA:2616 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Eosinophilia, Abn... |
ORPHA:464 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Joint hypermobility, Carious teeth, Widely spaced teeth, Yellow-brown ... |
OMIM:619229 |
De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Generalized joint laxity, Small, conical teeth, High palat... |
ORPHA:2962 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids, Dental crowding, Persiste... |
OMIM:619769 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Mal... |
OMIM:123790 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic ... |
ORPHA:2088 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia... |
ORPHA:1855 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Thrombocy... |
ORPHA:169090 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Hepatomegaly |
OMIM:614862 |
Opsismodysplasia |
|
Splenomegaly, Hepatomegaly, Abnormally ossified vertebrae, Joint stiffness |
ORPHA:2746 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Pancreatic cysts, Abnormality of the pancreas, Cleft... |
ORPHA:1318 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Radioulnar sy... |
ORPHA:85201 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi... |
OMIM:226990 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High p... |
OMIM:300867 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Ost... |
ORPHA:264580 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Joint stiffness, Micrognathia, Contracture of the distal i... |
OMIM:607015 |
Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega... |
OMIM:133540 |
Hurler Syndrome |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Flexion contracture, Cranial hyperostosis, Enlarged ... |
OMIM:607014 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Fractures of the long bones, Thrombocytopenia, Splenomegaly, Abnormality of the... |
ORPHA:464329 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p... |
OMIM:616300 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Micrognathia, Splenomegal... |
OMIM:261515 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Osteoporosis, Ivory epiphyses of the phalanges of the hand, High palate, Irregular ... |
OMIM:226980 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Hepatomegaly, Delayed eruption of primary teeth, Carious ... |
OMIM:216400 |
Kleefstra Syndrome Due To A Point Mutation |
|
Tracheomalacia, Natal tooth, Thick lower lip vermilion, Abnormality of the dentition |
ORPHA:261652 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Natal tooth, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Oste... |
ORPHA:828 |
Poikiloderma With Neutropenia |
|
Joint laxity, Joint stiffness, Micrognathia, Splenomegaly, Carious teeth, Leukopenia, Recurrent s... |
OMIM:604173 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... |
OMIM:615866 |
Osteogenesis Imperfecta |
|
Osteopenia, Delayed eruption of teeth, Abnormality of dental color, Carious teeth, Recurrent frac... |
ORPHA:666 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Micrognathia, Limitation of joint mobilit... |
ORPHA:79474 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, ... |
ORPHA:79240 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Joint stiffness, Mediastinal lymphadenopathy, Splenomegaly, Osteo... |
ORPHA:809 |
Greenberg Dysplasia |
|
Hepatomegaly, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Costal cartilage ca... |
OMIM:215140 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec... |
ORPHA:955 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Joint stiffness, Carious teeth, Splenomegaly, Flexion co... |
OMIM:253200 |
Eec Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ... |
ORPHA:1896 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Elevated hepatic transaminase, Portal hypertension, Ricke... |
OMIM:613658 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th... |
ORPHA:568 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Thin upper lip vermilion, Micrognathia, Osteoporosis, Gingival overgrowth, Dental mal... |
OMIM:249420 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Abnormality of neutrophils, Craniosynostosis, Micrognathia, Thrombocyt... |
ORPHA:235 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Decr... |
OMIM:617925 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... |
ORPHA:158061 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ... |
ORPHA:171 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Rickets |
OMIM:616026 |
Codas Syndrome |
|
Delayed eruption of teeth, Generalized joint laxity, Delayed ossification of carpal bones, Enamel... |
OMIM:600373 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Hypoplasia of the maxilla, Narrow palate, Tooth malposition, Thin bony cortex |
OMIM:277600 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Thrombocytopenia, Splenomegaly, Flexion c... |
OMIM:617591 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate |
OMIM:617337 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Ora... |
OMIM:602450 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Hepatomegaly, Camptodactyly of finger, Joint stiffness, Wide mouth, Long philtrum, Jo... |
OMIM:231050 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Joint hypermobility, Microg... |
OMIM:300990 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Peroxisome Biogenesis Disorder 1B |
|
Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:601539 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy |
ORPHA:85414 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Craniosynostosis, Micrognathia, Cleft lip, Cleft palate, High pala... |
ORPHA:2745 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Natal tooth, Median cleft lip, Hamartoma of tongue, Splenomegaly, Lobulated tongue,... |
OMIM:269860 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Osteolytic defects of the phal... |
OMIM:309350 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft upper lip, Micrognathia, High, narrow ... |
OMIM:122470 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microretrognathia, Microvesicular hepatic steatosis, Splenomegaly... |
OMIM:619418 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hy... |
ORPHA:95159 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Mucopolysaccharidosis Type 7 |
|
Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Ascites |
ORPHA:584 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Decreased hip abduction, Limited hip extension, Camptodactyly of finge... |
OMIM:143095 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Camptodactyly, J... |
OMIM:247200 |
Williams Syndrome |
|
Osteopenia, Cardiomegaly, Micrognathia, Microdontia, Joint laxity, Increased bone mineral density... |
ORPHA:904 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Micrognathia, Abnormality of the gingiva, Annular pancreas, Wide mouth... |
ORPHA:798 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Hepatomegaly, Sagittal craniosynostosis, Malformation of the hepatic ductal plate, ... |
OMIM:218330 |
Hermansky-Pudlak Syndrome 2 |
|
Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Carious ... |
OMIM:608233 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Thrombocytopenia, Reticulocytopenia, Gingival overgrowth, Leukopenia, ... |
ORPHA:508542 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp... |
OMIM:614188 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Gingival ... |
ORPHA:769 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Smooth philtrum, Delayed eruption of teeth, Carious teeth, High pa... |
OMIM:278250 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy |
OMIM:619183 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Limited elbow extension and supination, Thin upper lip vermilion, Shor... |
OMIM:180700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Joint hyperflexib... |
ORPHA:77301 |
Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Osteomalacia, Elevated circulating asparta... |
OMIM:277900 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Dental crowding, Micrognathia, Persistence of primary teeth, Dental mal... |
ORPHA:97360 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Elevated he... |
OMIM:608594 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Dental crowding, Recurrent fractures, Joint stiffnes... |
ORPHA:394 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Osteoporosis, Gout, Hepatocellular carcinoma, Pancre... |
OMIM:232200 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Tented upper lip vermilion, Dental crow... |
OMIM:268310 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxi... |
OMIM:613610 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Splenopancreatic fusion, Macroglossia, Sclerosis of skull base, ... |
OMIM:269150 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Smooth philtrum, Thin upper lip vermilion, Carious teeth, High, narrow palate, Thic... |
OMIM:615873 |
Wrinkly Skin Syndrome |
|
Osteopenia, Delayed eruption of teeth, Carious teeth, Generalized joint laxity, High palate, Smal... |
ORPHA:2834 |
Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Osteomyelit... |
OMIM:614162 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... |
OMIM:300972 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Elevated hemoglobin A1c, Joint stiffness... |
OMIM:619127 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplastic anemia, Micrognathia, Carious teeth, Velopharyngeal insuffici... |
OMIM:223370 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Spondyloocular Syndrome |
|
Osteopenia, Thin bony cortex, Abnormality of the dentition |
OMIM:605822 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Unicameral bone cyst, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Elevated he... |
OMIM:269700 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cerv... |
OMIM:602782 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Splenomegaly, High palate, Micrognathia |
OMIM:617913 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... |
OMIM:612651 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Splenomegaly, Mediastinal lym... |
ORPHA:379 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, Ascites, Enla... |
OMIM:200995 |
Sponastrime Dysplasia |
|
Joint laxity, Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, G... |
ORPHA:93357 |
Weill-Marchesani Syndrome 2 |
|
Joint stiffness, Hypoplasia of the maxilla, Elbow flexion contracture, Narrow palate, High palate... |
OMIM:608328 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,... |
ORPHA:77293 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Malformation of... |
OMIM:249000 |
Congenital Erythropoietic Porphyria |
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Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Osteopo... |
ORPHA:79277 |
Restrictive Dermopathy |
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Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Subm... |
ORPHA:1662 |
Craniotubular Dysplasia, Ikegawa Type |
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Thick lower lip vermilion, Sclerosis of skull base, Long philtrum, Thick upper lip vermilion, Thi... |
OMIM:619727 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Coffin-Siris Syndrome |
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Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Wid... |
ORPHA:1465 |
Barber-Say Syndrome |
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Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Tyrosinemia, Type I |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure... |
OMIM:276700 |
Restrictive Dermopathy 1 |
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Natal tooth, Limb joint contracture, Micrognathia, Ankylosis, Flexion contracture, Temporomandibu... |
OMIM:275210 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Recurrent fractures, Thrombocytopenia, Splenomegaly, Osteoporosis, Leukopenia, Hemo... |
OMIM:222700 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Eosinophilia, Conical tooth, Leukocytosis, Oligodontia, Hypodontia |
OMIM:308300 |
Doors Syndrome |
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Thin upper lip vermilion, Short lingual frenulum, Sagittal craniosynostosis, Abnormality of the d... |
ORPHA:79500 |
Smith-Lemli-Opitz Syndrome |
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Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,... |
ORPHA:818 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Flexion contracture... |
OMIM:300166 |
Multiple Myeloma |
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Osteopenia, Splenomegaly, Lymphadenopathy, Pathologic fracture, Anemia |
ORPHA:29073 |
Ramon Syndrome |
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Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
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Splenomegaly, Cranial hyperostosis |
OMIM:612918 |
Adnp Syndrome |
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Joint laxity, Thin upper lip vermilion, Thick lower lip vermilion, Advanced eruption of teeth, Sm... |
ORPHA:404448 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Caroli Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Fetal ascites, M... |
OMIM:619503 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia |
ORPHA:1675 |
Cockayne Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal dental morphology, Delayed eruption of prim... |
ORPHA:191 |
Charge Syndrome |
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Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl... |
ORPHA:138 |
Sickle Cell Disease |
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Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Thin upper lip vermilion, Natal tooth, Aplasia of the thymus, Micrognathia, Cario... |
OMIM:620186 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233690 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Neutropenia |
OMIM:617799 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Joint laxity, Hepatomegaly, Micrognathia, Cardiomegaly, Gingival overgrowth, Macroglossia, High p... |
ORPHA:96191 |
Wiedemann-Rautenstrauch Syndrome |
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Delayed eruption of teeth, Natal tooth, Micrognathia, Flexion contracture, Hypoplastic facial bon... |
OMIM:264090 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Natal tooth, Thin upper lip vermilion, Camptodactyly of finger, Abnormality of the de... |
ORPHA:3455 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Joint laxity, Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Denta... |
ORPHA:353281 |
Pallister-Hall Syndrome |
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Natal tooth, Microglossia, Cleft palate, Cleft upper lip |
OMIM:146510 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Delayed eruption of primary teeth |
OMIM:300952 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Follicular hyperplasia, Splen... |
OMIM:619381 |
Coffin-Siris Syndrome 1 |
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Joint laxity, Thin upper lip vermilion, Delayed eruption of teeth, Conical tooth, Thick lower lip... |
OMIM:135900 |
Scalp-Ear-Nipple Syndrome |
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Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Splenomegaly, Hepatomegaly, Hypodontia, Conical tooth |
OMIM:612132 |
Specc1L-Related Hypertelorism Syndrome |
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Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... |
ORPHA:1519 |
Orofaciodigital Syndrome Xiv |
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Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
Focal Dermal Hypoplasia |
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Joint laxity, Delayed eruption of teeth, Cleft upper lip, Dental malocclusion, Cleft palate, Olig... |
OMIM:305600 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal... |
ORPHA:353277 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Micrognathia, Joint stiffness, Cleft palate, Downturned corners of mou... |
ORPHA:199 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, As... |
ORPHA:261537 |
Sotos Syndrome |
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Joint laxity, Hip contracture, Ankle flexion contracture, Craniosynostosis, Abnormality of the de... |
ORPHA:821 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, As... |
ORPHA:261552 |
Floating-Harbor Syndrome |
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Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Oligodontia, ... |
ORPHA:2044 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Recurrent fractures, Abnormal ... |
ORPHA:2152 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Radioulnar sy... |
OMIM:606170 |
Pallister-Hall Syndrome |
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Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Distal arthrogr... |
ORPHA:672 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ... |
OMIM:235730 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Micrognathia, Fl... |
OMIM:601803 |