Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Osteopetrosis, Autosomal Dominant 1 |
|
Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Calvarial osteoscler... |
OMIM:607634 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Persistence... |
OMIM:259710 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... |
ORPHA:564003 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia |
OMIM:615085 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... |
ORPHA:3152 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Melorheostosis |
|
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... |
ORPHA:2485 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Coxa vara, Osteomyelitis, Hepatomegaly, Increased bone m... |
OMIM:259700 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormality of tibia mo... |
ORPHA:1802 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... |
OMIM:273050 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Fragmented, irregular ... |
ORPHA:566943 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, Limb undergrow... |
ORPHA:2204 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Osteosclerotic Metaphyseal Dysplasia |
|
Metaphyseal dysplasia, Clavicular sclerosis |
OMIM:615198 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatospl... |
OMIM:259730 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Abnormal bone ossification, Craniosynostosis, Micrognathia, Scoliosis, Abnormal f... |
ORPHA:2645 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:615518 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones |
ORPHA:57782 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Eiken Syndrome |
|
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... |
OMIM:600002 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Retrognathia... |
ORPHA:2780 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses, Obesity |
OMIM:264010 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Depressed nasal bridge, Wide nasal bridge, Abnormal metaphysis morphology, Craniof... |
ORPHA:1522 |
Hypertrichosis Lanuginosa Congenita |
|
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... |
ORPHA:2222 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... |
ORPHA:49042 |
Osteopetrosis, Autosomal Recessive 5 |
|
Gingival overgrowth, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Ex... |
OMIM:259720 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... |
ORPHA:53697 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... |
OMIM:231095 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, Short long bone |
ORPHA:1423 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalanx of... |
OMIM:311300 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp... |
ORPHA:37748 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Hepatomegaly, Micrognathia, Prominent nose, Epiphyseal stippling |
OMIM:614882 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Bulbous nose, Kyphosis, Clinodactyly of the 5th finger, Tooth malposition, D... |
ORPHA:2769 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Gingival overgrowth, Short clavicles, Bowing of the legs, Extra... |
ORPHA:313855 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... |
ORPHA:2501 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... |
ORPHA:2370 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... |
ORPHA:2972 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... |
ORPHA:163649 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Flared metaphysis, Micromelia, Generalized osteosclerosis,... |
OMIM:215045 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Depressed nasal... |
ORPHA:231214 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Diaphyseal sclerosis, Depressed nasal bridge, Cran... |
OMIM:122860 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Depressed nasal bridge, Anisocytosis, Abnormality of the denti... |
ORPHA:231226 |
Osteoglophonic Dysplasia |
|
High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short neck, Platyspondyly, ... |
OMIM:166250 |
Desmosterolosis |
|
Narrow mouth, Increased bone mineral density, Cleft palate, Splenomegaly, Retrognathia, Micrognat... |
ORPHA:35107 |
Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Spondylo... |
OMIM:265800 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Platyspondyly, Cone-shaped epiphysis, Delayed eruption... |
ORPHA:71267 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:618541 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Spondylolist... |
ORPHA:763 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Decreased body weight, Increased bone mineral density, Arachnodactyly, Os... |
OMIM:614856 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Abnormal leukocyte morphology, Mandibular osteomyelitis, Osteomye... |
ORPHA:53 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival overgrowth, Hirsutism, Thick eyebrow, Generalized hirsutism, Abnormality of the dentitio... |
ORPHA:2026 |
Trisomy 9P |
|
Kyphosis, Clinodactyly of the 5th finger, Abnormal nasal morphology, Impacted tooth, Short neck, ... |
ORPHA:236 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f... |
OMIM:228560 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
ORPHA:50811 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Craniosynostosis, Osteopetrosis, Reduced bone mi... |
ORPHA:667 |
Diastrophic Dysplasia |
|
Joint stiffness, Kyphosis, Increased bone mineral density, Cleft palate, Depressed nasal bridge, ... |
ORPHA:628 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Breast hypoplasia, Delayed eruption of teeth, Hypohidrosis, Hypoplastic nipples |
OMIM:129550 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Abnormal hair quantity, Periapical tooth abscess, Mi... |
ORPHA:3352 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Short neck, Carious teeth, Abnormal epiphysis morphology, Hypoplasi... |
ORPHA:1798 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Osteomalacia, Rickets |
OMIM:146350 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... |
ORPHA:1952 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Micrognathia |
OMIM:617306 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Depressed nasal bridge, Micrognathia, Scoliosis, Del... |
OMIM:613849 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Anemia, Femur fra... |
OMIM:612301 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Synostosis of carpal bones, Tooth malposition, Failure of eruption of perman... |
ORPHA:3238 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... |
ORPHA:2228 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, U-Shaped upper lip vermilion, Kyphosis, Metaphyseal dysplasia, Hyp... |
OMIM:234250 |
Gaucher Disease Type 1 |
|
Kyphosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Oste... |
ORPHA:77259 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of... |
ORPHA:2025 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Anemia, Lymphadenopathy |
ORPHA:100024 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Kyphoscoliosis, Metaphyseal dysplasia, Hepatomegaly, Malar flattening, Elev... |
OMIM:614727 |
17Q21.31 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Malar flattening, Abnormality of the dentition, Shor... |
ORPHA:217340 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Depressed nasal bridge, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapere... |
OMIM:612350 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Aredyld Syndrome |
|
Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Abnormal nasal morphology, S... |
ORPHA:1133 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent bronchiolitis, Lymphad... |
OMIM:619164 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Narrow mouth, Convex nasal ridge, Hypodontia, Short clavicles, Reduced bone min... |
OMIM:619322 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Narrow palate, Hepatomegaly, Kyphosis, Macroglossia, Sp... |
ORPHA:61 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... |
ORPHA:3319 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Frank-Ter Haar Syndrome |
|
Wide mouth, Gingival overgrowth, Premature loss of teeth, Joint stiffness, Kyphosis, Beaking of v... |
ORPHA:137834 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge, Scoliosis, Abnorm... |
ORPHA:40 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Abn... |
ORPHA:2658 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteo... |
OMIM:277950 |
Weismann-Netter Syndrome |
|
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... |
OMIM:112350 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shaped epiphysis, Platyspon... |
ORPHA:166272 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn... |
ORPHA:1306 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Narrow greate... |
OMIM:602557 |
Acromicric Dysplasia |
|
Joint stiffness, Bulbous nose, Narrow mouth, Abnormality of femur morphology, Fifth metacarpal wi... |
ORPHA:969 |
Cherubism |
|
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Submandibular lymph node enlargeme... |
OMIM:118400 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormal bone ossification, Anterior rib punctate calcifications, ... |
ORPHA:1426 |
Osteopetrosis With Renal Tubular Acidosis |
|
High palate, Recurrent fractures, Narrow mouth, Persistence of primary teeth, Tooth malposition, ... |
ORPHA:2785 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Eos... |
OMIM:147060 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Short neck, Abnormal vertebral morphology, Short nose, Anteverted nar... |
ORPHA:2015 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Broad nasal tip, Short neck, Short nose, Block vertebrae, Vertebral segmentation de... |
OMIM:272460 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Neutropenia, Chronic Familial |
|
Premature loss of teeth, Periodontitis, Gingivitis, Neutropenia, Clubbing of fingers, Clubbing |
OMIM:162700 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Lymphadenopathy |
OMIM:608971 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Kyphosis, Platyspondyly, Metaphyseal widening |
OMIM:618476 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Broad hallux |
OMIM:615923 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Kyphosis, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abno... |
ORPHA:476126 |
Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... |
OMIM:166260 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspondyly, Hyperplasia ... |
OMIM:156530 |
Majeed Syndrome |
|
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexi... |
ORPHA:77297 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Short nose, Anemia |
ORPHA:2598 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... |
ORPHA:63442 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Everted lower lip vermilion, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, De... |
ORPHA:181 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Recurrent fractures, Irregular vertebral endplates, Hypoplasti... |
ORPHA:1782 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
Proteus Syndrome |
|
Lymphangioma, Splenomegaly, Calvarial hyperostosis, Depressed nasal bridge, Thin bony cortex, Ope... |
OMIM:176920 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Osteopenia, Broad femoral neck, Thin bony cortex, Short tubular b... |
ORPHA:85184 |
Opsismodysplasia |
|
Joint stiffness, Hypoplastic vertebral bodies, Hepatomegaly, Abnormally ossified vertebrae, Splen... |
ORPHA:2746 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Depressed nasal bridge, ... |
OMIM:155050 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Depr... |
OMIM:313420 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Hepatosplenomegaly, Short neck, Brachydactyly, Short nose, Short long bone |
ORPHA:221054 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Anemia, Thrombo... |
OMIM:610539 |
Codas Syndrome |
|
Coronal cleft vertebrae, Short metacarpal, Depressed nasal bridge, Congenital hip dislocation, Sc... |
ORPHA:1458 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... |
OMIM:146300 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, D... |
ORPHA:1248 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Short neck, Pla... |
OMIM:251450 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Anosmia, Chronic sinusitis, Recurrent bronchitis, Asplenia, Absent outer dynein... |
OMIM:244400 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma... |
OMIM:184260 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... |
OMIM:224300 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Rickets |
OMIM:193100 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology |
ORPHA:482 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Acrodysostosis |
|
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, D... |
ORPHA:950 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Narrow palate, Cryptorchidism, Micrognathia, Multiple unerupted teeth, Abnormal p... |
ORPHA:2063 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:264700 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C... |
OMIM:612714 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... |
ORPHA:353298 |
Gapo Syndrome |
|
Eruption failure, Wide anterior fontanel, Hepatomegaly, High, narrow palate, Depressed nasal brid... |
OMIM:230740 |
Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Short neck, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Ename... |
OMIM:612463 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact... |
ORPHA:2635 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Tooth agenesis, Alopecia, Short philtrum, Delayed eruption of teeth, Mandibula... |
ORPHA:2325 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... |
OMIM:619489 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... |
OMIM:183849 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the gallbladder, Abnormality of the nose, Biliary tra... |
ORPHA:2869 |
Roifman Syndrome |
|
Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Eosinophi... |
OMIM:616651 |
Primary Ciliary Dyskinesia |
|
Chronic rhinitis, Nasal congestion, Chronic sinusitis, Polysplenia, Nasal polyposis, Asplenia, Cl... |
ORPHA:244 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Patchy alopecia, Camptodactyly of finger, Carious teeth, Ename... |
OMIM:226650 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
Osteopetrosis, Autosomal Dominant 3 |
|
Premature loss of teeth, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Gingivitis,... |
OMIM:618107 |
Mental Retardation, X-Linked 91 |
|
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Short foot, Clinodactyly |
OMIM:300577 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, Advanced eruption of teeth |
ORPHA:2266 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, Absence ... |
ORPHA:277 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb unde... |
OMIM:118651 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... |
OMIM:301078 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Beemer-Ertbruggen Syndrome |
|
Bulbous nose, Increased bone mineral density, Micrognathia, Deep philtrum, Thrombocytopenia, Wide... |
ORPHA:1237 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, E... |
ORPHA:79303 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Osteomalacia, Genu varum, Abnormal ... |
ORPHA:93160 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... |
OMIM:619924 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... |
OMIM:141300 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Increased intervertebral space, Depressed nasal bridge, Metaphyseal ... |
OMIM:618961 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Bony paranasal bossing, Patchy sclerosis of finger phalanx, Flared metaphy... |
OMIM:218400 |
Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Micrognathia, Osteopenia, Narrow nose, Delayed eruption of teeth, Scoliosi... |
OMIM:601812 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Cernunnos-Xlf Deficiency |
|
Bulbous nose, Lymphopenia, Convex nasal ridge, B lymphocytopenia, T lymphocytopenia, Anemia, Thro... |
ORPHA:169079 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis |
OMIM:618234 |
Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... |
OMIM:131300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Cleidocranial Dysplasia |
|
Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Down-sloping shoulders, Delay... |
ORPHA:1452 |
Cleidocranial Dysplasia 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Depressed nasal br... |
OMIM:119600 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Brachydactyly, Type E1 |
|
Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ... |
OMIM:113300 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Bulbous nose, Depressed nasal bridge, Abnormality of the dentition, Osteopenia, Platyspondyly, Bi... |
OMIM:271510 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... |
ORPHA:970 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent aphthous stoma... |
OMIM:150550 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Upper limb undergrowth, Pathologic fracture, Short f... |
ORPHA:166277 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Craniometadiaphyseal Dysplasia |
|
High palate, Sclerosis of skull base, Broad long bones, Wide anterior fontanel, Malar flattening,... |
OMIM:269300 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Failure to thrive, Increased bone mineral density, Osteopenia, Short humerus... |
OMIM:239000 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:277440 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia, Long philtrum |
OMIM:218010 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... |
OMIM:615631 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Sho... |
OMIM:614078 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon... |
ORPHA:85435 |
Ck Syndrome |
|
High palate, Kyphosis, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hyperlordosis, Ab... |
OMIM:300831 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Jaundi... |
OMIM:614876 |
Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Platyspondyly, Cario... |
OMIM:253010 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly |
ORPHA:1114 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Depressed nasal brid... |
ORPHA:457395 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:209950 |
Ramon Syndrome |
|
Generalized hirsutism, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysi... |
ORPHA:3019 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... |
ORPHA:337 |
Temple-Baraitser Syndrome |
|
High palate, Wide mouth, Depressed nasal bridge, Short phalanx of the thumb, Delayed eruption of ... |
ORPHA:420561 |
Hall-Riggs Syndrome |
|
Abnormal dental enamel morphology, Wide mouth, Joint stiffness, Platyspondyly, Scoliosis, Delayed... |
ORPHA:2107 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly |
ORPHA:417 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections,... |
OMIM:613101 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... |
OMIM:611590 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi... |
ORPHA:1695 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... |
OMIM:300853 |
Elsahy-Waters Syndrome |
|
High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, ... |
OMIM:211380 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Microdontia, Delayed eruption of teeth, Carious teeth, Coxa magna, Flat capital femor... |
OMIM:190350 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... |
OMIM:113000 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te... |
ORPHA:1328 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Malar flattening, Craniosynostosis, Depressed nasal bridge, Osteopenia, Short ne... |
OMIM:616723 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... |
ORPHA:89936 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b... |
ORPHA:1327 |
Infantile Sialic Acid Storage Disease |
|
High palate, Metaphyseal irregularity, Gingival overgrowth, Hepatomegaly, Vacuolated lymphocytes,... |
OMIM:269920 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Kyphoscoliosis, Coxa valga, Joint contracture of the hand, Flexion contracture, Thin vermilion bo... |
OMIM:214150 |
Pai Syndrome |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef... |
ORPHA:1993 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Micromelia |
OMIM:273680 |
Ollier Disease |
|
Joint stiffness, Lymphangioma, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Multiple... |
ORPHA:296 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased B cell count, Clubbing of fingers, Lymphadenopathy, Increased propo... |
OMIM:618982 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... |
ORPHA:93314 |
Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of ... |
OMIM:253000 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Bowing of the legs, Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal... |
OMIM:112250 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Lymphopenia, Persistence of primary teeth, Supernumerary tooth, Talipes equinovarus,... |
OMIM:619752 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Micromelia,... |
ORPHA:2741 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Cryptorchidism, Micrognathia, Camptodactyly of finger, Delayed erupt... |
ORPHA:2863 |
Developmental And Epileptic Encephalopathy 73 |
|
Flexion contracture, Scoliosis, Narrow nasal bridge, Short nose, Hip dysplasia |
OMIM:618379 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets |
ORPHA:89937 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, Anemia, B Acute Lym... |
OMIM:619824 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Sclerosis of skull base, Tooth malposition, Bony paranasal bossing, Erlenmeyer flask deformity of... |
OMIM:123000 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin bony cortex, C1-C2 subluxation, Thin me... |
OMIM:259600 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Elevated hepatic ... |
ORPHA:79301 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Cleft l... |
OMIM:618761 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets |
OMIM:613388 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Sinusitis, Nasal polyposis, Arthritis |
ORPHA:183 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Hypodontia, Thin vermilion border, Abnormality of the nares, Micr... |
ORPHA:94063 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent cutaneous abscess formation |
ORPHA:499 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Increased ... |
ORPHA:98848 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... |
ORPHA:289157 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of a... |
OMIM:616809 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Potocki-Shaffer Syndrome |
|
Broad nasal tip, Depressed nasal tip, Short philtrum, Micrognathia, Decreased skull ossification,... |
ORPHA:52022 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Short neck, Gingival fibr... |
ORPHA:1832 |
Blomstrand Lethal Chondrodysplasia |
|
Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Malar flattening... |
ORPHA:50945 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Depressed nasal bridge,... |
ORPHA:261120 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ... |
ORPHA:2831 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Oral melanotic macule, Biliary tract abnormality, Iron... |
OMIM:175200 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short distal phalanx of finger, Depressed nasal bridge, Abnormality of the vertebral column, Shor... |
OMIM:302950 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder mor... |
ORPHA:1277 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Osteolysis |
ORPHA:158014 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Subperiosteal bone formation |
OMIM:609993 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Epiphyseal stippling, Hepatomegaly, Wide nasal bridge |
OMIM:614870 |
Grant Syndrome |
|
Open bite, Abnormality of the glenoid fossa, Micrognathia, Depressed nasal bridge, Joint hyperfle... |
ORPHA:2097 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Long philtrum, Short nose |
OMIM:605309 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
Gorham-Stout Disease |
|
Mandibular pain, Abnormality of femur morphology, Abnormality of finger, Lymphangioma, Abnormal b... |
ORPHA:73 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Rickets |
OMIM:615605 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing |
OMIM:615066 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent bronchitis,... |
OMIM:242680 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Dental crowding, Kyphosis, Bulbous nose, Postaxial polydactyly, Depressed nasal bridge, Micrognat... |
OMIM:615761 |
Sandhoff Disease |
|
Kyphosis, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Fetal Akinesia Deformation Sequence 4 |
|
High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly... |
OMIM:618393 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Gingival overgrowth, Narrow mouth, Hepatomegaly, Sea-blue histiocytosis, Hypopla... |
OMIM:230600 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Dental crowding, Overjet, Hepatomegaly, Persistence of primary teeth, Hypodontia, Ev... |
OMIM:618342 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Natal tooth, Hypopl... |
OMIM:601345 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... |
OMIM:104570 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, Everted lower l... |
ORPHA:915 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Failure to thrive, Rickets, Splenomegaly |
OMIM:211600 |
Lipoid Proteinosis |
|
High palate, Abnormal oral mucosa morphology, Tongue nodules, Microglossia, Thick lower lip vermi... |
ORPHA:530 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Gingival overgrowth, Lymphopenia, Leukopenia, Short humerus, Brachydactyly, Delayed eruption of t... |
ORPHA:508542 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... |
OMIM:618986 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Kyphosis, Gingival overgrowth, Short distal phalanx of finger, Long hallux, Absent d... |
OMIM:618658 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Increased bone mineral density, Depressed nasal bridge, Short neck, Delayed... |
ORPHA:94089 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Shor... |
OMIM:201000 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Kyphosis, Everted lower lip vermilion, Short philtrum, Scoliosis, Short nose, Mandibu... |
ORPHA:2429 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Wide mouth, Dental crowding, Low hanging columella, Long philtrum, Delayed eruption ... |
OMIM:618825 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Dental crowding, Macroglossia, Long philtrum, Delayed eruption of teeth, Scoliosis, ... |
OMIM:616354 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Coxoauricular Syndrome |
|
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... |
ORPHA:1508 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Wide mouth, Kyphosis, Reduced bone mineral density, Abnormality of the den... |
ORPHA:582 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Congenital hip dislocation, Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ... |
OMIM:619736 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Triangular mouth, Cleft palate, Depressed nasal bridge, Abnormality of the dentition,... |
OMIM:616331 |
Rothmund-Thomson Syndrome Type 2 |
|
High palate, Cleft palate, Metaphyseal sclerosis, Long nose, Abnormality of the dentition, Osteop... |
ORPHA:221016 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Malar flattening, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint la... |
OMIM:130060 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Nasal polyposis, Bifid uvula, Median cleft lip |
OMIM:155145 |
Congenital Disorder Of Glycosylation, Type Il |
|
Wide mouth, Kyphosis, Hepatomegaly, Depressed nasal bridge, Hepatosplenomegaly, Short neck, Long ... |
OMIM:608776 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Osteoarthritis, Cone-shaped epiphysis, Brachydactyly... |
OMIM:618618 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonit... |
ORPHA:2686 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Hypohidrosis, Nail dystrophy, Natal tooth, Hypoplastic sweat glands |
OMIM:617337 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypodontia, Delayed eruption of teeth, Decrea... |
ORPHA:1816 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
3M Syndrome |
|
Bulbous nose, Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of th... |
ORPHA:2616 |
Pierpont Syndrome |
|
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... |
OMIM:602342 |
Shashi-Pena Syndrome |
|
Kyphosis, Retrognathia, Broad nasal tip, Scoliosis, Osteoporosis |
OMIM:617190 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Caffey Disease |
|
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... |
ORPHA:1310 |
Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Short toe, Malar flattening, Short phalanx of finger, Tapered finger, Camptodactyly... |
OMIM:613458 |
Marshall-Smith Syndrome |
|
Gingival overgrowth, Craniosynostosis, Retrognathia, Reduced bone mineral density, Scoliosis, Sle... |
ORPHA:561 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb |
OMIM:618453 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, H... |
OMIM:226980 |
Leishmaniasis |
|
Hepatomegaly, Abnormal oral cavity morphology, Rhinitis, Splenomegaly, Leukopenia, Abnormal macro... |
ORPHA:507 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemia, Short nose, Neut... |
OMIM:612563 |
Pitt-Hopkins Syndrome |
|
Abnormal palate morphology, Wide mouth, Tooth malposition, Failure of eruption of permanent teeth... |
ORPHA:2896 |
Shaheen Syndrome |
|
Enamel hypoplasia, Hypohidrosis, Carious teeth |
OMIM:615328 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy |
OMIM:611762 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Sparse hair, Abnormal soft palate morphology, Everted lower lip vermil... |
ORPHA:884 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Reduced bone mineral density, Thin vermilion border, Short philtrum, Short neck, Spina ... |
ORPHA:2983 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia |
OMIM:615905 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Multiple joint contractures, Toe clinodactyly, Malar flatten... |
OMIM:300244 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Abnormal abdomen morphology, Anodontia, Dental malocclusion, Narrow palate, Supernum... |
OMIM:264475 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Craniosynostosis, Micrognathia, Short philtrum, Abnormality of the vertebral column... |
OMIM:201050 |
Achondrogenesis |
|
Micrognathia, Short neck, Long philtrum, Abnormality of bone mineral density, Short nose, Antever... |
ORPHA:932 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Kyphosis, Abnormality of the tongue, Short distal phalanx of finger, Wide anterior f... |
ORPHA:3098 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... |
ORPHA:93323 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Vertebral segmentation defect, Butterfly vertebrae, Cleft palate, Small hand, Left v... |
OMIM:611209 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Conical tooth, Hypodontia |
OMIM:300636 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Otopalatodigital Syndrome Type 2 |
|
Cleft palate, Depressed nasal bridge, Short nose, Bowing of the long bones, Carpal synostosis, In... |
ORPHA:90652 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Chronic rhinitis, Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Raine Syndrome |
|
High palate, Wide mouth, Cleft palate, Depressed nasal bridge, Short neck, Microdontia, Short nos... |
OMIM:259775 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Bulbous nose, Hepatomegaly, Craniosynostosis, Long nose, Depressed nasal bridge, Short nose, Seve... |
ORPHA:508533 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Recurrent upper respiratory ... |
OMIM:300209 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas, Arthritis |
ORPHA:1195 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He... |
ORPHA:848 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Short proximal phalanx of hallux, S... |
OMIM:251190 |
Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Kyphosis, Scoliosis |
OMIM:611225 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Micrognathia, Short neck, Long philtrum, Short nose, Short foot, Anteverted ... |
ORPHA:93299 |
Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Microdontia... |
ORPHA:2909 |
Stickler Syndrome Type 1 |
|
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... |
ORPHA:90653 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Micrognathia, Unilambdoid synostosis, Long philtrum, Scoliosis, Short nose, Clinodactyly, Antever... |
OMIM:618577 |
Distal Trisomy 18Q |
|
High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finge... |
ORPHA:1716 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of fin... |
ORPHA:3409 |
Singleton-Merten Syndrome 1 |
|
Expanded metacarpals with widened medullary cavities, Osteopenia, Carious teeth, Osteolytic defec... |
OMIM:182250 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Patholo... |
ORPHA:157215 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Narrow mouth, Depressed nasal ridge, Splenomegaly, Thin vermilion border, Micrognathia, Sandal ga... |
ORPHA:1046 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Recurren... |
OMIM:618849 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Aplastic anemia, Delayed eruption of... |
ORPHA:811 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Long ph... |
ORPHA:50814 |
Sponastrime Dysplasia |
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Depressed nasal bridge, Microdontia, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Hip s... |
ORPHA:93357 |
Odontomicronychial Dysplasia |
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Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent te... |
ORPHA:1811 |
Osteogenesis Imperfecta, Type Xxii |
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Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... |
OMIM:619795 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Ring Chromosome 8 Syndrome |
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Anteverted nares, Short nose, Abnormal palate morphology, Deviation of finger |
ORPHA:1450 |
Felty Syndrome |
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Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia... |
ORPHA:47612 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares |
OMIM:614069 |
Ciliary Dyskinesia, Primary, 35 |
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Chronic rhinitis, Chronic sinusitis, Nasal polyposis |
OMIM:617092 |
Bare Lymphocyte Syndrome, Type I |
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Recurrent bronchitis, Chronic sinusitis, Nasal polyposis |
OMIM:604571 |
Amelogenesis Imperfecta, Type Iiic |
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Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Clark-Baraitser syndrome |
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Kyphosis, Maxillary lateral incisor microdontia, Prominent median palatal raphe, Broad nasal tip,... |
OMIM:300602 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Lymphoproliferative Syndrome 3 |
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Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Specific Granule Deficiency 2 |
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Tooth malposition, Osteopenia, Brachydactyly, Thrombocytopenia, Sandal gap, Conical tooth, Neutro... |
OMIM:617475 |
Brachydactyly, Type E2 |
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Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
Burkitt Lymphoma |
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Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Neoplasm ... |
ORPHA:543 |
Pde4D Haploinsufficiency Syndrome |
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Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... |
ORPHA:439822 |
Pfapa Syndrome |
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Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Arthritis, Recurrent pharyngitis, Ly... |
ORPHA:42642 |
Ciliary Dyskinesia, Primary, 42 |
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Recurrent sinusitis, Chronic rhinitis, Nasal polyposis |
OMIM:618695 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
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Anodontia, Kyphosis, Everted lower lip vermilion, Oligodontia, Scoliosis, Tapered finger, Wide nose |
ORPHA:276630 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Coffin-Lowry Syndrome |
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High palate, Wide mouth, Depressed nasal bridge, Broad finger, Delayed eruption of teeth, Advance... |
ORPHA:192 |
Babesiosis |
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Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Recurrent pharyngitis,... |
ORPHA:108 |
Gamma-Heavy Chain Disease |
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Abnormal palate morphology, Hepatomegaly, Splenomegaly, Rheumatoid arthritis, Autoimmune thromboc... |
ORPHA:100026 |
Chst3-Related Skeletal Dysplasia |
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Kyphoscoliosis, Flexion contracture, Long philtrum, Delayed eruption of teeth, Scoliosis, Abnorma... |
ORPHA:263463 |
Congenital Disorder Of Glycosylation, Type Iic |
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Periodontitis, Bulbous nose, Neutrophilia, Brachydactyly, Short foot, Reduction of neutrophil mot... |
OMIM:266265 |
Sialidosis Type 2 |
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Kyphosis, Hepatomegaly, Flexion contracture, Splenomegaly, Osteoporosis, Ascites |
ORPHA:87876 |
Acrocraniofacial Dysostosis |
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Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Advanced eruption of teeth,... |
ORPHA:949 |
Three M Syndrome 2 |
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High palate, Dental malocclusion, Prominent nasal tip, Lumbar hyperlordosis, Malar flattening, De... |
OMIM:612921 |
Vitamin K Antagonist Embryofetopathy |
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Short distal phalanx of finger, Macroglossia, Depressed nasal bridge, Short neck, Brachydactyly, ... |
ORPHA:1914 |
Autosomal Dominant Hyper-Ige Syndrome |
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Recurrent fractures, Osteomyelitis, Cleft palate, Craniosynostosis, Abnormality of the dentition,... |
ORPHA:2314 |
Sarcoidosis |
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Bone cyst, Hepatomegaly, Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Thrombocytopen... |
ORPHA:797 |
Dyssegmental Dysplasia With Glaucoma |
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Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft... |
OMIM:601561 |
Ciliary Dyskinesia, Primary, 19 |
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Recurrent sinusitis, Rhinitis, Absent inner and outer dynein arms, Nasal polyposis |
OMIM:614935 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Throm... |
ORPHA:98850 |
Verheij Syndrome |
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Hemivertebrae, Short neck, Long philtrum, Scoliosis, Short 5th finger, Short nose, Thin upper lip... |
OMIM:615583 |
Laron Syndrome |
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Short toe, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Microgna... |
ORPHA:633 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Niemann-Pick Disease, Type B |
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Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
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