Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Ane... |
ORPHA:1802 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... |
OMIM:615615 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
Osteomesopyknosis |
|
Increased bone mineral density, Scoliosis, Abnormal cortical bone morphology, Kyphosis, Sclerotic... |
ORPHA:2777 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Abnormality of the fifth metatarsal bone, Chondritis, Ab... |
ORPHA:564003 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Autoimmunity, Increased circulating antibody level, Arthralgia/arthritis, N... |
ORPHA:411593 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Scoliosis, Abnormality of fibula morphology, Abnormal cortical b... |
ORPHA:3344 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... |
OMIM:601859 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular... |
ORPHA:79106 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased CD4:CD8 ratio... |
OMIM:617006 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Gnathodiaphyseal Dysplasia |
|
Scoliosis, Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyeli... |
ORPHA:53697 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Diaphyseal thickening, Cranial hyp... |
ORPHA:3416 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... |
ORPHA:3152 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Scoliosis, Abnormal cortical bone morphology, Abnormal metaphysis morpho... |
ORPHA:2635 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia,... |
ORPHA:277 |
Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... |
OMIM:271530 |
Hip Dysplasia, Beukes Type |
|
Scoliosis, Hip dysplasia, Abnormality of bone mineral density, Osteoarthritis, Kyphosis, Abnormal... |
ORPHA:2114 |
Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormal hip bone mo... |
ORPHA:970 |
Caffey Disease |
|
Calvarial hyperostosis, Scoliosis, Increased circulating antibody level, Cortical thickening of l... |
ORPHA:1310 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Autoimmunity, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Pyle Disease |
|
Limited elbow extension, Reduced bone mineral density, Scoliosis, Metaphyseal widening, Platyspon... |
OMIM:265900 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... |
OMIM:600785 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... |
OMIM:618534 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Scoliosis, Broad long bones, Broad femoral head, Sclerosis of middle finger phalanx, Broad radial... |
ORPHA:85188 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of limb bone morphology, Increased bone mineral density, Abnormal cortical bone morph... |
ORPHA:2204 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... |
OMIM:267500 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Ck Syndrome |
|
Scoliosis, Abnormal cortical bone morphology, Kyphosis, Abnormal digit morphology, Joint hypermob... |
OMIM:300831 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... |
OMIM:603909 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop... |
ORPHA:444463 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Autoimmune thromb... |
OMIM:300853 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Cranio-Osteoarthropathy |
|
Deviation of finger, Abnormal cortical bone morphology, Joint stiffness, Osteoarthritis, Arthriti... |
ORPHA:1525 |
Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Thin... |
OMIM:176920 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating ant... |
ORPHA:169079 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, Insulin resis... |
ORPHA:79084 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Ski... |
OMIM:619374 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Increased circulating antibody level, Hemolytic anemia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Recurrent ... |
OMIM:240500 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Thrombocytopenia, Decreased proportion of CD8-posit... |
OMIM:614493 |
Winchester Syndrome |
|
Generalized osteoporosis, Broad metacarpals, Kyphosis, Carpal osteolysis, Osteolysis involving ta... |
OMIM:277950 |
Metatropic Dysplasia |
|
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... |
OMIM:156530 |
Chilblain Lupus |
|
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Chronic m... |
ORPHA:90280 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi... |
ORPHA:166277 |
Mahvash Disease |
|
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thoracic kyphosis, Short 4th metacarpal, Platyspondyly, Broad thumb, Femoral bowing, Short 5th me... |
OMIM:619638 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Impaired oxidative burst, Hemolytic anemia, Abscess, Rheumatoid factor positi... |
OMIM:618935 |
Lipase Deficiency, Combined |
|
Pancreatitis, Type II diabetes mellitus |
OMIM:246650 |
Osteogenesis Imperfecta, Type Xxii |
|
Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Multiple small vert... |
OMIM:619795 |
Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo... |
ORPHA:75508 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Osteolysis, Pathologic fracture, Bowing of the long bones |
OMIM:174810 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Short neck, Abnormal hip bone morphology, Slender long bone, L... |
ORPHA:1486 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p... |
ORPHA:93314 |
Gorham-Stout Disease |
|
Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Osteolysis involving b... |
ORPHA:73 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Bowing of the long bones, Abnormality of the glenoid fossa, De... |
ORPHA:2097 |
Pseudoachondroplasia |
|
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... |
OMIM:177170 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Autoimmunity, Skin ra... |
ORPHA:331206 |
Parastremmatic Dwarfism |
|
Scoliosis, Short neck, Kyphosis, Flexion contracture, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Slender long bones with narrow diaphyses, Osteopenia |
ORPHA:50811 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Acute otitis media, Autoimmunity, Skin rash... |
ORPHA:572 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea... |
OMIM:615559 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Recurrent otitis media, Re... |
OMIM:617585 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic int... |
OMIM:618495 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormal c... |
ORPHA:2484 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Anti-dsDNA antibody po... |
OMIM:619375 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:158061 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... |
OMIM:600081 |
Caffey Disease |
|
Calvarial hyperostosis, Bowing of the legs, Cortical irregularity, Joint hypermobility, Periostea... |
OMIM:114000 |
Pachydermoperiostosis |
|
Eczematoid dermatitis, Osteolysis, Scoliosis, Abnormal cortical bone morphology, Genu varum, Anem... |
ORPHA:2796 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Autoimmunity, Chronic lymphatic leukemia, Decreased ci... |
OMIM:616005 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Delayed ossification of carpal bones, Kyphosis, Short femoral neck,... |
OMIM:618392 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:540 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Joint stiffness, Ovoid vertebral bodies, Bowing of the long bones, Vertebral wedging, ... |
ORPHA:40 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Eczema, Lymphopenia, ... |
OMIM:617780 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Increased circulating IgE level, Eczema, Increased circulating IgM leve... |
OMIM:617241 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Scoliosis, Lateral femoral bowing, Kyphosis, Horizontal sacrum, Anterior ... |
OMIM:112350 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Congenital Pancreatic Cyst |
|
Pancreatitis, Jaundice |
ORPHA:313906 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Hashimoto thyroiditis, Decreased proportion of CD3-positive T cells, Skin rash, Rec... |
ORPHA:275 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Scoliosis, Hip dislocation, Proximal placement of thumb, Thoracic kyphoscoliosis, Metaphyseal irr... |
OMIM:613330 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificati... |
OMIM:300554 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmunity, Autoimmun... |
OMIM:615952 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Bulging epiphyses, Hypophosphatemic rickets, Delayed epiphyseal ossification, Femoral bo... |
OMIM:241530 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Bone marrow hypocellularity, Refractory anemia, Systemic lupus erythematosus, Monocyt... |
OMIM:616871 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Hump-shaped mound of bone ... |
ORPHA:93284 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Hallux valgus, Kyphosis, Osteopenia, Contracture of the proximal interphalangeal joint... |
OMIM:130060 |
Gm1-Gangliosidosis, Type Ii |
|
Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Coxa valga, Sea-blue histiocytosis, Pla... |
OMIM:230600 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Autoimmune hemolytic anemia, ... |
ORPHA:231154 |
Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... |
ORPHA:210110 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Anti-islet antigen-2 antibody positivity, Pancytopenia, Anti-g... |
OMIM:620044 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Antineutrophil anti... |
OMIM:301078 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Autoimmunity, Anemia, Pancreatitis, Bone marrow hypoce... |
ORPHA:1830 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Short finger, Thoracolumbar scoliosis, Knee flexion contracture, Kyphosis, Tapered finger, Platys... |
OMIM:313420 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Interphalangeal joint contracture of finger, Thin bony cortex, Kyphoscoliosis,... |
OMIM:259600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Scoliosis, Hip dislocation, Generalized joint laxity, Metaphyseal irregularity, Kyphoscoliosis, F... |
ORPHA:93360 |
Desbuquois Dysplasia 1 |
|
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... |
OMIM:251450 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Camptodactyly of finger, Decreased cervical spine mobility, Genu varum, Joint... |
OMIM:208230 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Diabetes mellitus |
ORPHA:676 |
Osteogenesis Imperfecta, Type Xviii |
|
Generalized osteoporosis, Vertebral compression fracture, Femoral bowing, Joint laxity, Recurrent... |
OMIM:617952 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... |
OMIM:609813 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... |
OMIM:277440 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis, Joint contracture |
OMIM:611225 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Lymphocytosis, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu... |
ORPHA:83451 |
Lymphoproliferative Syndrome 1 |
|
Autoimmunity, Leukopenia, Stomatitis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic a... |
OMIM:613011 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Leukocytosis, Inflammation of the large intestine, Colitis, Redu... |
OMIM:619281 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Distal femoral bowi... |
ORPHA:289176 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Adrenal insufficiency, Hepatic steatosis, Hypoglycemia |
OMIM:619386 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender long bones with narrow diaphyses, Metaphyseal striations, Osteopenia, Short femoral neck,... |
OMIM:608154 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia... |
OMIM:152700 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Increased circulating antibody level, Hyperthyroidism, Rheumatoid arthritis, System... |
ORPHA:48377 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Short neck, Abnormal diaphysis morphology, Increased circulating IgE lev... |
ORPHA:3409 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Pancreatitis, Hepatomegaly, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Abnormal diaphysis morphology, Coxa valga, Osteopenia, Broad femo... |
ORPHA:85184 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Liver abscess, Intrahepatic cholestasis, Neoplasm of the l... |
ORPHA:69663 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hypoglycemia |
OMIM:620137 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Scoliosis, Short distal phalanx of finger, Irregular acetabular roo... |
OMIM:156500 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Short thumb, Overlapping toe, Kyphosis, Clinodactyly of the 5th finger |
OMIM:618453 |
Osteogenesis Imperfecta, Type X |
|
Scoliosis, Generalized joint laxity, Bowing of the long bones, Osteopenia, Vertebral compression ... |
OMIM:613848 |
Alpha-Mannosidosis |
|
Chronic otitis media, Craniofacial hyperostosis, Scoliosis, Hip dysplasia, Short neck, Hypoplasti... |
ORPHA:61 |
Dent Disease 1 |
|
Rickets, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Femoral bowing, Sparse... |
OMIM:300009 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Autoimmunity, Anemia, Abscess, Decreased circulating IgA level, ... |
OMIM:615758 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Anemia, Femur fracture, Decreased circulating IgA level, Abnorma... |
OMIM:612301 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Hepatic steatosis, Microcytic anemia |
OMIM:618805 |
Bruck Syndrome 1 |
|
Scoliosis, Osteoporosis, Vertebral wedging, Knee flexion contracture, Kyphosis, Platyspondyly, Pr... |
OMIM:259450 |
Smith-Mccort Dysplasia 1 |
|
Scoliosis, Genu varum, Short neck, Multicentric femoral head ossification, Hypoplastic scapulae, ... |
OMIM:607326 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Chronic oral candidiasis, Increased circulatin... |
OMIM:308230 |
Diastrophic Dysplasia |
|
Short finger, Increased bone mineral density, Camptodactyly of finger, Scoliosis, Ulnar deviation... |
ORPHA:628 |
Hall-Riggs Mental Retardation Syndrome |
|
Scoliosis, Irregular vertebral endplates, Osteoporosis, Kyphosis, Platyspondyly, Metaphyseal dysp... |
OMIM:234250 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Acne inversa, Predominantly dermal neutrophilic i... |
ORPHA:3243 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Reduced delayed hypersensitivity, Recurre... |
OMIM:242700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyte tran... |
ORPHA:35078 |
Propionic Acidemia |
|
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Pancytopenia, Eczema, Hypoglycemia, Neutrop... |
OMIM:606054 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... |
OMIM:600802 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Diabetes mellitus, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatic steatosis, I... |
ORPHA:79083 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly, Thrombocytopenia, Hypoglyce... |
OMIM:251000 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... |
OMIM:616329 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Osteoporosis, Kyphosis |
ORPHA:2786 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Fibrous Dysplasia Of Bone |
|
Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Sc... |
ORPHA:249 |
Ebola Hemorrhagic Fever |
|
Maculopapular exanthema, Leukopenia, Increased circulating antibody level, Lymphopenia, Hepatitis... |
ORPHA:319218 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Bone marrow hypocellularity, Autoimmunity, Acute myeloid leukemia |
ORPHA:98827 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Scoliosis, Joint stiffness, Kyphosis, Abnormal metacarpal mo... |
ORPHA:137834 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormality of the vertebral column, Calvarial osteosclerosis, Osteop... |
OMIM:607634 |
Van Buchem Disease |
|
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis |
OMIM:239100 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Decreased specific anti-polysaccharide antibody level, Rheumatoid factor positive, ... |
ORPHA:3261 |
Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Spinal rigidity, Small epiphyses, Cervical instability, Short neck, Laryngotracheomala... |
ORPHA:94068 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Genu varum, Irregular, rachitic-like metaphyses, Osteomalacia, Delayed epiphyseal ossifi... |
ORPHA:289157 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:606843 |
Pgm3-Cdg |
|
Chronic otitis media, Chronic sinusitis, Autoimmunity, Hemolytic anemia, Decreased proportion of ... |
ORPHA:443811 |
Benign Recurrent Intrahepatic Cholestasis |
|
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, Cholelith... |
ORPHA:65682 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Scoliosis, Kyphosis, Short neck |
ORPHA:2744 |
Primary Sclerosing Cholangitis |
|
Autoimmunity, Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholel... |
ORPHA:171 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Cytoplasmic antineutrophil antibody positivity, Increased circulating IgG4 lev... |
ORPHA:449400 |
Selective Igm Deficiency |
|
Chronic sinusitis, Autoimmunity, Decreased specific antibody response to vaccination, Decreased p... |
ORPHA:331235 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Cervical instability, Delayed ossification of carpal bones, Coxa valga, Dis... |
OMIM:617425 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Scoliosis, Narrow greater sciatic notch, Dumbbell-shaped femur, Short neck, Irregular, rachitic-l... |
OMIM:184252 |
Gallbladder Disease 1 |
|
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Chol... |
OMIM:600803 |
Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... |
OMIM:223800 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice, Hepatomegaly |
OMIM:243300 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... |
OMIM:619774 |
Microscopic Polyangiitis |
|
Peritonitis, Autoimmunity, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, ... |
ORPHA:727 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Sinusitis, Thromb... |
OMIM:226990 |
Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Short lower limbs, Kyphosis, Multiple prenatal fractures, Platyspondyly, Bowing of lim... |
OMIM:259440 |
Acquired Generalized Lipodystrophy |
|
Autoimmunity, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Hepatic steatosis, I... |
ORPHA:79086 |
Zimmermann-Laband Syndrome 3 |
|
Clinodactyly, Short distal phalanx of finger, Long thumb, Kyphosis, Absent distal phalanges, Long... |
OMIM:618658 |
Legionnaires Disease |
|
Myocarditis, Jaundice, Endocarditis, Pancreatitis, Bone marrow hypocellularity, Lymphopenia, Hepa... |
ORPHA:549 |
Familial Osteodysplasia, Anderson Type |
|
Scoliosis, Abnormal cortical bone morphology, Bifid femur, Kyphosis, Clinodactyly of the 5th fing... |
ORPHA:2769 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Scoliosis, Hip dysplasia, Increased circulating IgE level, Kyphos... |
ORPHA:1858 |
Duchenne And Becker Muscular Dystrophy |
|
Reduced bone mineral density, Scoliosis, Joint stiffness, Slender long bone, Hyperlordosis |
ORPHA:262 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Pancreatitis, Hepatomegaly, Hepatic steatosis, Insulin resistance, Splenomegaly |
ORPHA:2348 |
Autoimmune Polyendocrinopathy Type 4 |
|
Autoimmunity, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocyt... |
ORPHA:227990 |
Arthrogryposis, Distal, Type 4 |
|
Camptodactyly, Scoliosis, Distal arthrogryposis, Lumbar scoliosis, Tibial deviation of toes, Camp... |
OMIM:609128 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Eczematoid dermatitis, Autoimmunity, Atypical or prolonged hepatitis, Oligo... |
ORPHA:83471 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Hip dislocation, Kyphosis, Small hand, Short foot |
OMIM:300434 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... |
OMIM:613179 |
Bethlem Myopathy 2 |
|
Scoliosis, Hip dislocation, Distal joint laxity, Kyphosis, Flexion contracture |
OMIM:616471 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmunity, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocyt... |
ORPHA:227982 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Polydactyly, Abnormality of neutrophils, Short 4th metacar... |
OMIM:169400 |
Mody |
|
Pancreatic hypoplasia, Neonatal hypoglycemia, Hepatocellular adenoma, Glycosuria, Abnormal oral g... |
ORPHA:552 |
Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Pointed proximal second through fifth metacarpals, Short neck, Ovoid vertebral bodies,... |
OMIM:253000 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... |
ORPHA:562639 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scoliosis, Widely spaced toes, Scheuermann-like vertebral changes, Kyphosis, Shortening of all di... |
OMIM:301900 |
Rothmund-Thomson Syndrome |
|
Reduced bone mineral density, Malar rash, Aplastic anemia, Skin rash, Anemia, Leukemia, Short thu... |
ORPHA:2909 |
Primary Lipodystrophy |
|
Pancreatitis, Cirrhosis, Type II diabetes mellitus, Hepatic steatosis, Insulin resistance, Spleno... |
ORPHA:90970 |
Bruck Syndrome |
|
Scoliosis, Joint stiffness, Osteoporosis, Kyphosis, Platyspondyly, Recurrent fractures, Arthrogry... |
ORPHA:2771 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Scoliosis, Osteoporosis, Kyphosis, Abnormality of the cervical spine |
ORPHA:48431 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Fasting hyperinsulinemia, Osteoarthritis, Hyperinsulinemia, Hyperinsulinemic hypogl... |
ORPHA:2298 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Knee flexion contracture, Kyphosis, Hip contracture, Arthrogryposis multiplex congenit... |
OMIM:600175 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Leukopenia, Increased circulating antibody level, Ane... |
ORPHA:77259 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pancreatic pseudocyst, Exocrine pancre... |
OMIM:167800 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Periodontitis, Pneumonia, Neutrophilia,... |
OMIM:266265 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Kyphosis, Spinal rigidity, Joint hypermobility, Flexion contracture |
OMIM:618323 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat... |
OMIM:617253 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Scoliosis, Abnormal cortical bone morphology, Ab... |
ORPHA:2658 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Autoimmunity, Nonketotic hypoglycemia, Hypoglycemic seizures, Hypoketotic ... |
ORPHA:293964 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Hand polydactyly, Abnormal cortical bone morphology, Abnormal metaphysis... |
ORPHA:2710 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Preaxial hand polydactyly, Decreased proportion of CD4-positive helper T cells, Short phalanx of ... |
ORPHA:508533 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Scoliosis, Abnormal cortical bone morphology, Abnormal metaphysis morpho... |
ORPHA:3206 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteolysis, Stomatitis, Skin rash, Abscess, Neutrophilia, Osteopenia, Periostitis, Osteomyelitis,... |
OMIM:612852 |
Thymoma |
|
Glomerulonephritis, Autoimmunity, Aplastic anemia, Pure red cell aplasia, Leukemia, Anti-acetylch... |
ORPHA:99867 |
Cach Syndrome |
|
Hepatosplenomegaly, Pancreatitis, Optic neuritis |
ORPHA:135 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis, Scoliosis, Kyphosis |
OMIM:618234 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... |
ORPHA:457395 |
Tropical Pancreatitis |
|
Maternal diabetes, Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreati... |
ORPHA:103918 |
Osteogenesis Imperfecta, Type Viii |
|
Scoliosis, Short metacarpal, Kyphosis, Osteopenia, Vertebral compression fracture, Platyspondyly,... |
OMIM:610915 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Pancreatitis, Iridocyclitis, Type II diabetes mellitus, Hypothyroidism, Type I diabetes mellitus |
ORPHA:412057 |
Frank-Ter Haar Syndrome |
|
Camptodactyly, Hip dysplasia, Prominent coccyx, Bowing of the long bones, Osteoporosis, Cortical ... |
OMIM:249420 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Eczema, Kyphosis, Hip dysplasia |
OMIM:620007 |
Immunodeficiency 17 |
|
Eczema, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Chronic de... |
OMIM:615607 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia, Autoimmunity |
OMIM:222100 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Scoliosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hyperlordosis |
OMIM:300718 |
Rothmund-Thomson Syndrome Type 2 |
|
Synostosis involving bones of the upper limbs, Patellar aplasia, Aplasia/hypoplasia involving bon... |
ORPHA:221016 |
Rat-Bite Fever |
|
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Anemia, Sk... |
ORPHA:31205 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar interpedicular narrowing, Metaphyseal irregularity, Small epiphyses, Kyphoscoliosis, Flat ... |
OMIM:271510 |
Sialidosis Type 2 |
|
Flexion contracture, Osteoporosis, Kyphosis, Splenomegaly |
ORPHA:87876 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Autoimmunity, Hemophagocytosis, Colitis, Fulminant hepatitis, Histiocytosis, Increas... |
ORPHA:2442 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, Short neck, Kyphosis... |
ORPHA:3098 |
Rothmund-Thomson Syndrome Type 1 |
|
Patellar aplasia, Metaphyseal sclerosis, Aplastic anemia, Anemia, Genu varum, Leukemia, Metaphyse... |
ORPHA:221008 |
Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Severe generalized osteoporosis, Kyphosis, Slender long bone, Multiple prenatal fractu... |
OMIM:259420 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis |
ORPHA:85288 |
Osteogenesis Imperfecta |
|
Scoliosis, Abnormal long bone morphology, Abnormal cortical bone morphology, Osteoarthritis, Decr... |
ORPHA:666 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatocellular carcinoma, Pancreatitis, Portal inflammation, Hepatic fibrosis, Hepatic steatosis,... |
OMIM:603471 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib... |
ORPHA:37042 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Short metata... |
OMIM:271700 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmunity, Autoimmune hemolytic anemia, Hepatomegaly, Chronic oral candidia... |
OMIM:615387 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Shortening of the talar neck, Osteoarthritis, Osteomalacia, Hypophosphatemic rickets, Tr... |
OMIM:307800 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Scoliosis, Hip dislocation, Short neck, Increased laxity of fingers, Hyperextensibility at wrists... |
ORPHA:75840 |
Igg4-Related Kidney Disease |
|
Chronic sinusitis, Increased circulating IgG4 level, Inflammatory abnormality of the skin, Rheuma... |
ORPHA:449395 |
Bullous Pemphigoid |
|
Diabetes mellitus, Eczema, Autoimmunity, Psoriasiform dermatitis |
ORPHA:703 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Anterior atlanto-occipital dislocation, Scoliosis, Hip dysplasia, Kyphoscoliosis, Hallux valgus, ... |
ORPHA:536467 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Lumbar hyperlordosis, Short neck, Kyphosis, Irregular epiphyses, Hump-shaped mound of ... |
OMIM:313400 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic sinusitis, Autoimmunity, Diabetes mellitus, Decreased specific pneumococcal antibody leve... |
ORPHA:183675 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal cupping, Bowed humerus, Metaphyseal irregularity, Short 5th metacarpal, Radial bowing... |
OMIM:618019 |
Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Hepatic steatosis, Insulin-resistant diabetes mellitus |
ORPHA:435651 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Increased circulating IgG4 level, Orchitis, Increased circulating IgE level, Pancrea... |
ORPHA:449563 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures, ... |
OMIM:166740 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Hip dislocation, Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:616756 |
Mucopolysaccharidosis Type 4 |
|
Reduced bone mineral density, Scoliosis, Abnormal metaphysis morphology, Short neck, Coxa valga, ... |
ORPHA:582 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Malar rash, Oligoarthritis, Finger dactylitis, En... |
ORPHA:85436 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Reduced bone mineral density, Scoliosis, Kyphosis, Vertebral segmentation defect |
ORPHA:2617 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Scoliosis, Short neck, Long hallux, Osteoporosis, Vertebral compression fracture, Long fingers, R... |
OMIM:309583 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody... |
OMIM:618986 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pancreatitis, Pericarditis, Leukocytosis |
ORPHA:188 |
Sandhoff Disease |
|
Kyphosis, Splenomegaly |
ORPHA:796 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Scoliosis, Metaphyseal irregularity, Kyphoscoliosis, Metaphyseal widening, Short iliac bones, Lym... |
OMIM:607944 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Ulcerative colitis, Eos... |
ORPHA:555905 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Cholangitis, Autoimmuni... |
ORPHA:228426 |
Fetal Akinesia Deformation Sequence 4 |
|
Camptodactyly, Short neck, Kyphosis, Rocker bottom foot, Arthrogryposis multiplex congenita |
OMIM:618393 |
Tropical Calcific Pancreatitis |
|
Chronic pancreatitis, Insulin-dependent but ketosis-resistant diabetes, Neoplasm of the pancreas,... |
OMIM:608189 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnor... |
ORPHA:2688 |
Microsporidiosis |
|
Myocarditis, Peritonitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:2552 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Cone-shaped epiphyses of the phala... |
OMIM:300106 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Neutropenia, Lymphopenia, Osteo... |
OMIM:618849 |
Gamma-Heavy Chain Disease |
|
Autoimmunity, Anemia, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnorm... |
ORPHA:100026 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Scoliosis, Hip dysplasia, Knee flexion contracture, Kyphosis, Achilles tendon contracture, Hip co... |
OMIM:615290 |
Maple Syrup Urine Disease |
|
Pancreatitis, Hypoglycemia |
OMIM:248600 |
Weill-Marchesani Syndrome 1 |
|
Broad metatarsal, Scoliosis, Lumbar hyperlordosis, Broad phalanges of the hand, Joint stiffness, ... |
OMIM:277600 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Hip dysplasia, Generalized joint laxity, Increased susceptibility to fractures, Sagitt... |
ORPHA:536471 |
Bare Lymphocyte Syndrome, Type Ii |
|
Biliary tract abnormality, Cholangitis, Cutaneous anergy, Chronic mucocutaneous candidiasis, Coli... |
OMIM:209920 |
Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Hip dysplasia, Pointed proximal second through fifth metacarpals, Ovoid vertebral bodi... |
OMIM:253010 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... |
OMIM:301000 |
Cdkl5-Deficiency Disorder |
|
Broad proximal phalanges of the hand, Scoliosis, Hallux valgus, Kyphosis |
ORPHA:505652 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Scoliosis, Decreased circulating IgA level, Kyphosis, Decreased ... |
OMIM:300861 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:617404 |
Pauci-Immune Glomerulonephritis |
|
Cytoplasmic antineutrophil antibody positivity, Glomerulonephritis, Granulomatosis, Tubulointerst... |
ORPHA:93126 |
Igg4-Related Pachymeningitis |
|
Increased circulating IgG4 level, Pancreatitis, Lymphadenitis, Parotitis, Eosinophilia, Sinusitis... |
ORPHA:449427 |
Coccidioidomycosis |
|
Peritonitis, Morbilliform rash, Abnormality of the liver, Abscess, Skin rash, Granuloma, Pancreat... |
ORPHA:228123 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:66628 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Kyphosis, Vertebral compression fracture, Recurrent fractures |
ORPHA:85193 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level, Scoliosis, Kyphosis |
ORPHA:85317 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis, Tapered finger |
ORPHA:276630 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Scoliosis, Abnormal metaphysis morphology, Short neck, Bowing of ... |
ORPHA:1798 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Scoliosis, Hip dysplasia, Short neck, Kyphosis, Rocker bottom foot, Arthrogryposis multiplex cong... |
OMIM:611890 |
Masa Syndrome |
|
Adducted thumb, Kyphosis, Hyperlordosis |
OMIM:303350 |
Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Delayed calcaneal ossification, Lumbar hyperlordosis, Hip dislocation, Short neck, Ovo... |
OMIM:183900 |
Camurati-Engelmann Disease |
|
Scoliosis, Abnormality of the humerus, Abnormal diaphysis morphology, Abnormal morphology of ulna... |
ORPHA:1328 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Reduced bone mineral density, Short neck, Kyphosis, Spina bifida occulta, Genu valgum |
ORPHA:2983 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Inflammation of the large intestine, Gout, Pancreatitis, Hepatomegaly, ... |
OMIM:232220 |
Myopathic Ehlers-Danlos Syndrome |
|
Scoliosis, Knee flexion contracture, Kyphosis, Joint contracture of the hand, Tapered finger, Sho... |
ORPHA:536516 |
Caroli Syndrome |
|
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Leukopenia, Intrahepatic cholestasis, Pancrea... |
ORPHA:480520 |
Flynn-Aird Syndrome |
|
Scoliosis, Bone cyst, Kyphosis, Joint stiffness |
ORPHA:2047 |
Aspartylglucosaminuria |
|
Chronic otitis media, Scoliosis, Abnormal cortical bone morphology, Joint stiffness, Arthritis, B... |
ORPHA:93 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:179494 |
Dent Disease |
|
Rickets, Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Sp... |
ORPHA:1652 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short distal phalanx of finger, Abnormal diaphysis morphology, Triangular shaped distal phalanges... |
ORPHA:73230 |
Geroderma Osteodysplasticum |
|
Camptodactyly, Irregular vertebral endplates, Osteoporosis, Osteopenia, Vertebral compression fra... |
OMIM:231070 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Autoimmunity, Hemophagocytosis, Anemia, Pancytopenia, Splenomegaly, Panniculitis |
OMIM:618398 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Interface hepatitis, Impaired lymphocyte transformation with phytohemag... |
OMIM:243150 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Glomerulonephritis, Leukopenia, Increased circulating antibody level, Hemopha... |
ORPHA:470 |
Ruvalcaba Syndrome |
|
Limited elbow extension, Scoliosis, Short metatarsal, Short metacarpal, Kyphosis, Short palm, Sma... |
OMIM:180870 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Kyphosis, Abnormal metacarp... |
ORPHA:3219 |
Weill-Marchesani Syndrome 2 |
|
Broad metatarsal, Short finger, Scoliosis, Lumbar hyperlordosis, Broad phalanges of the hand, Joi... |
OMIM:608328 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis |
OMIM:145001 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Scoliosis, Joint contracture of the 5th finger, Kyphosis, Congenital contracture, Arthrogryposis ... |
ORPHA:352490 |
Roifman Syndrome |
|
Hepatosplenomegaly, Eczema, Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased ... |
ORPHA:353298 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Thr... |
ORPHA:3226 |
Mucolipidosis Iii Gamma |
|
Scoliosis, Joint stiffness, Short neck, Kyphosis, Flared iliac wing, Genu valgum, Flat capital fe... |
OMIM:252605 |
Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Scoliosis, Kyphosis, Biconcave flattened vertebrae, Bowing of limbs... |
OMIM:166220 |
Hurler Syndrome |
|
Calvarial hyperostosis, Hepatosplenomegaly, Flexion contracture, Joint stiffness, Short neck, Met... |
OMIM:607014 |
Igg4-Related Thyroid Disease |
|
Graves disease, Increased circulating IgG4 level, Autoimmunity, Pancreatic fibrosis, Hashimoto th... |
ORPHA:64744 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... |
OMIM:301081 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Inflammation of the large intest... |
ORPHA:79259 |
Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Hypoplastic acetabulae, Kyphosis, Platyspondyly, Flared iliac wing, Anterior beaking o... |
OMIM:230650 |
Zygomycosis |
|
Peritonitis, Myocarditis, Endocarditis, Diabetes mellitus, Pancreatitis, Colitis, Gastritis, Hepa... |
ORPHA:73263 |
Spondyloocular Syndrome |
|
Overlapping toe, Femur fracture, Vertebral compression fracture, Osteopenia, Platyspondyly, Long ... |
OMIM:605822 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Arachnodactyly, Scoliosis, Kyphosis |
ORPHA:1548 |
Hypomelanosis Of Ito |
|
Hand polydactyly, Scoliosis, Syndactyly, Kyphosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Mucopolysaccharidosis Type 6 |
|
Chronic otitis media, Abnormal metaphysis morphology, Joint stiffness, Ovoid vertebral bodies, Sh... |
ORPHA:583 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Leukocytosis, Leukopenia, Anemia, Recurrent hypoglycemia, Nonketotic hypoglycemia, Hepa... |
ORPHA:20 |
Achondroplasia |
|
Abnormal iliac wing morphology, Hip joint hypermobility, Limited elbow extension, Lumbar hyperlor... |
ORPHA:15 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Scoliosis, Postaxial polydactyly, Sacral dimple, Kyphosis, Broad distal phalanx of finger, Sandal... |
OMIM:615761 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Vacuolated lymphocytes, Inflammatory abnormality of the skin, Diabetes mellitus, Pancreatitis, He... |
ORPHA:565612 |
Mccune-Albright Syndrome |
|
Elevated circulating growth hormone concentration, Hepatocellular adenoma, Increased circulating ... |
ORPHA:562 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Campomelic Dysplasia |
|
Tracheomalacia, Scoliosis, Hip dislocation, Short neck, Hypoplastic inferior ilia, Bowing of the ... |
ORPHA:140 |
Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Camptodactyly of finger, Scoliosis, Aspiration pneumonia, Abnormal metaphysis... |
ORPHA:354 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Hemolytic anemia, Anemia, Hepatic fibrosis, Hepatomegaly, Chilblains, Acute p... |
OMIM:619487 |
Familial Chylomicronemia Syndrome |
|
Hepatosplenomegaly, Jaundice, Recurrent pancreatitis, Diabetes mellitus, Acute pancreatitis, Peri... |
ORPHA:444490 |
Pemphigus Erythematosus |
|
Malar rash, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythem... |
ORPHA:79480 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Stuve-Wiedemann Syndrome 1 |
|
Scoliosis, Clubbing, Pathologic fracture, Contracture of the proximal interphalangeal joint of th... |
OMIM:601559 |
Sjögren-Larsson Syndrome |
|
Joint stiffness, Inflammatory abnormality of the eye, Scoliosis, Kyphosis |
ORPHA:816 |
Faciocardiomelic Syndrome |
|
Cuboid-shaped vertebral bodies, Polydactyly, Osteopenia, Slender long bone, Hypoplastic pelvis, T... |
OMIM:612731 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... |
ORPHA:101096 |
Pycnodysostosis |
|
Spondylolysis, Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral densi... |
ORPHA:763 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Jaundice, Reticulocytosis, Leukopenia, Increased circulati... |
ORPHA:99826 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis, Anemia |
ORPHA:2598 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Scoliosis, Joint stiffness, Short neck, Anterior beaking of lower thoracic v... |
OMIM:253220 |
Craniotubular Dysplasia, Ikegawa Type |
|
3-4 finger syndactyly, Broad femoral neck, Increased intervertebral space, Platyspondyly, Broad i... |
OMIM:619727 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Pancreatitis, Hepatomegaly, Hepatic steatosis, Insulin resistance, Splenomegaly |
ORPHA:280365 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Cholangitis, Myeloproliferative disorder, Leukocytosis, Inflammatory abnormal... |
ORPHA:3260 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Scoliosis, Hip dislocation, Metaphyseal widening, Coxa valga, Osteopenia, Clubbing of fingers, Jo... |
OMIM:620083 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Scoliosis, Short neck, Kyphosis, Clinodactyly, Arthrogryposis multiplex cong... |
ORPHA:178148 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Pericarditis, Autoimmunity, Granulomatosis, Skin rash, Pancreatitis, Sinusi... |
ORPHA:900 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Congenital foot contractures, Kyphosis, Limitation of joint mobility, Clinodactyly of ... |
ORPHA:3454 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pancreatitis, Jaundice, Anemia |
ORPHA:370348 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Flattened epiphysis, Shoulder... |
OMIM:143095 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pancreatitis, Hepatic steatosis |
OMIM:236200 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Scoliosis, Kyphosis, Flexion contracture of finger, Adducted thumb, Flexion contracture, Arthrogr... |
OMIM:618484 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Leukocytosis, Skin rash, Increased circulating IgM level, Pannic... |
OMIM:617099 |
Holt-Oram Syndrome |
|
Down-sloping shoulders, Scoliosis, Abnormality of the humerus, Absent thumb, Joint stiffness, Pho... |
ORPHA:392 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased bone mineral density, Short humerus, Lateral femoral bowing, Osteoporosis, Ankylosis, K... |
OMIM:239000 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
Sjogren Syndrome |
|
Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid ar... |
OMIM:270150 |
Dysbetalipoproteinemia |
|
Gout, Diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hypothyroidism |
ORPHA:412 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Recurrent pneumonia, Thrombocytope... |
OMIM:619644 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis |
OMIM:618237 |
Adult-Onset Still Disease |
|
Myocarditis, Generalized lymphadenopathy, Leukocytosis, Skin rash, Bone marrow hypocellularity, A... |
ORPHA:829 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pancreatitis, Increased circulating cortisol level, Primary hypercortisolism |
OMIM:610475 |
Glycogen Storage Disease Ia |
|
Fasting hypoglycemia, Hepatocellular carcinoma, Gout, Pancreatitis, Hepatomegaly, Hypoglycemia |
OMIM:232200 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Metaphyseal widening, Kyphosis, Increased skul... |
OMIM:618476 |
Occipital Horn Syndrome |
|
Rickets, Scoliosis, Hip dislocation, Hip dysplasia, Osteomalacia, Humerus varus, Coxa vara, Brach... |
ORPHA:198 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Camptodactyly of finger, Scoliosis, Hallux valgus, Leukemia, Kyphosis, Rock... |
OMIM:619951 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
Schaaf-Yang Syndrome |
|
Camptodactyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Rocker bottom foot, Taper... |
OMIM:615547 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Arthrogryposis multiplex congenita, Scoliosis, Kyphosis, Clinodactyly of the 5th finger |
OMIM:615834 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Acute colitis, Pan... |
ORPHA:90038 |
Stickler Syndrome, Type I |
|
Scoliosis, Joint stiffness, Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, M... |
OMIM:108300 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Chronic otitis media, Decreased specific antibody response... |
OMIM:618131 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Scoliosis, Congenital hip dislocation, Dislocation of the femoral head, Kyphosis, Hyperextensibil... |
OMIM:619797 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, Kyphosis, Shoulder dislocation, Adducted thumb, Joint hyperflexibility, Arachnodactyly |
ORPHA:2181 |
3M Syndrome |
|
Scoliosis, Congenital hip dislocation, Abnormal metaphysis morphology, Short neck, Increased vert... |
ORPHA:2616 |
Cole-Carpenter Syndrome 2 |
|
Coronal craniosynostosis, Kyphosis, Osteopenia, Platyspondyly, Lambdoidal craniosynostosis, Recur... |
OMIM:616294 |
Orotic Aciduria |
|
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... |
OMIM:258900 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2429 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hypohidrosis, Inflammation of the large intestine, Decreased specific anti-polysaccharide antibod... |
OMIM:614576 |
Clark-Baraitser syndrome |
|
Scoliosis, Kyphosis, Tapered finger, Joint laxity, Short palm, Genu valgum |
OMIM:300602 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Aplasia/Hypoplasia of fingers, Kyphosis, Abnormal epiphysis morphology, Toe syndactyl... |
ORPHA:3082 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Scoliosis, Camptodactyly, Hallux valgus, Congenital hip dislocation, Kyphos... |
OMIM:300280 |
Citrullinemia Type Ii |
|
Hepatocellular carcinoma, Pancreatitis, Hepatic fibrosis, Hepatomegaly, Hepatic steatosis |
ORPHA:247585 |
Thanatophoric Dysplasia |
|
Hip dysplasia, Abnormal metaphysis morphology, Joint stiffness, Kyphosis, Abnormal sacroiliac joi... |
ORPHA:2655 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Hepatomegaly, Hypoglycemia, Hepatic periportal necrosis |
ORPHA:26791 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Pathologic fracture, Anemia, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Hip dislocation, Congenital hip dislocation, Arthrogryposis multiplex congenita, Femur... |
OMIM:618291 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Joint stiffness, B... |
ORPHA:1860 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Autoimmunity, Increased circulating antibody level... |
ORPHA:449432 |
Arthrogryposis, Distal, Type 5 |
|
Absent phalangeal crease, Scoliosis, Distal arthrogryposis, Limited wrist extension, Kyphosis, Co... |
OMIM:108145 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Hepatomegaly, Increased circulating IgM level, Acute pancreatitis, Neu... |
ORPHA:99827 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Leukocytosis, Hemolytic anemia, Diabetes mellitus, Acute colitis, Pancreatitis, Sept... |
ORPHA:544482 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II diabetes mellitus, Hep... |
OMIM:151660 |
Megalocornea-Intellectual Disability Syndrome |
|
Scoliosis, Genu varum, Kyphosis, Osteopenia, Tapered finger, Joint hyperflexibility, Metatarsus v... |
ORPHA:2479 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Kyphosis, Flexion contracture of finger, Ankle flexion contracture, San... |
OMIM:619040 |
Brachyolmia Type 3 |
|
Scoliosis, Short neck, Kyphosis, Platyspondyly, Short femoral neck, Proximal femoral metaphyseal ... |
OMIM:113500 |
Melas |
|
Recurrent pancreatitis, Anemia, Diabetes mellitus, Hypoparathyroidism, Type II diabetes mellitus,... |
ORPHA:550 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Osteoporosis, Scoliosis, Kyphosis, Joint contracture |
OMIM:615381 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Increased circulating IgA level, Leukocytosis, Skin rash, Lymphadenitis, Arth... |
OMIM:260920 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Scoliosis, Kyphosis, Small hand |
OMIM:617435 |
Ruvalcaba Syndrome |
|
Scoliosis, Proximal placement of thumb, Short metacarpal, Kyphosis, Synostosis of carpal bones, C... |
ORPHA:3121 |
19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Scoliosis, Short neck, Finger syndactyly, Kyphosis, Clinodactyly of the 5th fin... |
ORPHA:254346 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short neck, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Kyphosis, Fused cervi... |
ORPHA:2522 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Joint hyperflexibility |
ORPHA:319199 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Scoliosis, Kyphosis, Split hand |
OMIM:618124 |
Familial Mediterranean Fever |
|
Peritonitis, Orchitis, Skin rash, Erysipelas, Pancreatitis, Osteoarthritis, Arthritis, Pericardit... |
ORPHA:342 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hip dislocation, Hallux valgus, Keratoconjunctivitis sicca, Sacral dimple, Kyphosis, Osteopenia, ... |
ORPHA:536532 |
Subaortic Stenosis-Short Stature Syndrome |
|
Scoliosis, Short neck, Synostosis of carpal bones, Kyphosis, Acne |
ORPHA:3191 |
Lysinuric Protein Intolerance |
|
Leukopenia, Hemophagocytosis, Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:222700 |
4Q21 Microdeletion Syndrome |
|
Scoliosis, Short neck, Kyphosis, Toe syndactyly, Short palm, Small hand, Short foot |
ORPHA:238750 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... |
OMIM:618213 |
Shashi-Pena Syndrome |
|
Scoliosis, Osteoporosis, Short metacarpal, Kyphosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Mulibrey Nanism |
|
Thickened cortex of long bones |
OMIM:253250 |
Behçet Disease |
|
Optic neuritis, Orchitis, Endocarditis, Recurrent aphthous stomatitis, Pancreatitis, Keratoconjun... |
ORPHA:117 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Abnormal diaphysis morpholo... |
ORPHA:192 |
Osteoporosis-Pseudoglioma Syndrome |
|
Scoliosis, Pathologic fracture, Metaphyseal widening, Osteoporosis, Severe platyspondyly, Kyphosi... |
OMIM:259770 |
Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly |
OMIM:238600 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Short toe, Hyperlordosis, Brachydactyly |
ORPHA:3085 |
Mgat2-Cdg |
|
Scoliosis, Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Osteopenia, Impa... |
ORPHA:79329 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
Trisomy 20P |
|
Reduced bone mineral density, Scoliosis, Camptodactyly of finger, Short neck, Finger syndactyly, ... |
ORPHA:261318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Vertebral fusion, Kyphosis, Elbow contracture, Achilles tendon contracture, Hyperlordosis |
OMIM:606612 |
Spondyloenchondrodysplasia |
|
Short distal phalanx of finger, Hypoplastic ilia, Skin rash, Autoimmune thrombocytopenia, Granulo... |
ORPHA:1855 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Hip dislocation, Rocker bottom foot, Down-sloping shoulders, Camptodactyly of toe, Pat... |
OMIM:265000 |
Mirizzi Syndrome |
|
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Cholester... |
ORPHA:521219 |
Stevens-Johnson Syndrome |
|
Anemia, Pancreatitis, Abnormality of neutrophils, Thrombocytopenia, Conjunctivitis |
ORPHA:36426 |
15Q24 Microdeletion Syndrome |
|
Scoliosis, Proximal placement of thumb, Abnormal toe morphology, Kyphosis, Joint laxity, Small ha... |
ORPHA:94065 |
Hajdu-Cheney Syndrome |
|
Short distal phalanx of finger, Osteolysis, Scoliosis, Short neck, Partial absence of toe, Bowing... |
ORPHA:955 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Joint laxity, Small hand, Sandal gap, Short foot, Brachydactyly |
OMIM:300354 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Stomatitis, ... |
OMIM:232240 |
Typical Nemaline Myopathy |
|
Scoliosis, Hip dislocation, Genu varum, Short neck, Kyphosis, Spinal rigidity, Genu valgum, Flexi... |
ORPHA:171436 |
Baralle-Macken Syndrome |
|
Kyphosis, Tapered finger |
OMIM:619255 |
Toxic Epidermal Necrolysis |
|
Anemia, Pancreatitis, Thrombocytopenia, Conjunctivitis, Neutropenia |
ORPHA:537 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Acute infectious pneumonia, Abnor... |
ORPHA:723 |
Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis |
OMIM:617768 |
Cleidocranial Dysplasia 1 |
|
Spondylolysis, Increased bone mineral density, Scoliosis, Hip dislocation, Long second metacarpal... |
OMIM:119600 |
Poland Syndrome |
|
Scoliosis, Abnormality of the humerus, Absent hand, Finger symphalangism, Abnormal morphology of ... |
ORPHA:2911 |
Wieacker-Wolff Syndrome |
|
Camptodactyly, Scoliosis, Hip dislocation, Congenital foot contractures, Short neck, Proximal pla... |
OMIM:314580 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Hepatic steatos... |
OMIM:608594 |
Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Kyphosis, Platyspondyly, Joint hyperflexibility, Limitation of jo... |
ORPHA:93274 |
Cystic Fibrosis |
|
Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Hepatomegaly, Cirrhosis, Recurrent pneumonia... |
OMIM:219700 |
Alstrom Syndrome |
|
Hyperostosis frontalis interna, Scoliosis, Tubulointerstitial nephritis, Chronic active hepatitis... |
OMIM:203800 |
Trichohepatoneurodevelopmental Syndrome |
|
Recurrent pancreatitis, Hepatomegaly, Recurrent otitis media, Hypothyroidism, Cholelithiasis, Spl... |
OMIM:618268 |
Crisponi Syndrome |
|
Camptodactyly of finger, Scoliosis, Kyphosis, Limitation of joint mobility, Flexion contracture |
ORPHA:1545 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Type II diabetes mellitus, Hepatic... |
OMIM:269700 |
Acro-Renal-Mandibular Syndrome |
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Scoliosis, Butterfly vertebrae, Hip dislocation, Short neck, Finger syndactyly, Hypoplastic scapu... |
ORPHA:958 |
Myopathy, Centronuclear, 2 |
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Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:255200 |
Congenital Disorder Of Glycosylation, Type Il |
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Hepatosplenomegaly, Hip dislocation, Kyphosis, Short neck |
OMIM:608776 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... |
ORPHA:542323 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
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Scoliosis, Kyphosis |
OMIM:610743 |
Marinesco-Sjogren Syndrome |
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Scoliosis, Short metatarsal, Coxa valga, Short metacarpal, Kyphosis, Flexion contracture |
OMIM:248800 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
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Chronic otitis media, Scoliosis, Hip dysplasia, Prominent coccyx, Short neck, Short digit, Sacral... |
OMIM:300966 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Scoliosis, Hip dislocation, Kyphosis |
ORPHA:464282 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Rickets, Reduced bone mineral density, Scoliosis, Anemia, Osteopenia, Joint laxity, Pancytopenia,... |
OMIM:613658 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Osteoporosis, Kyphosis, Osteopenia |
OMIM:219080 |
Marshall-Smith Syndrome |
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Short distal phalanx of finger, Scoliosis, Large sternal ossification centers, Hip dysplasia, Tho... |
OMIM:602535 |
Wieacker-Wolff Syndrome, Female-Restricted |
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Scoliosis, Hip dislocation, Short neck, Limited shoulder movement, Kyphosis, Rocker bottom foot, ... |
OMIM:301041 |
Scapuloperoneal Spinal Muscular Atrophy |
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Scoliosis, Hip dysplasia, Kyphosis, Metatarsus adductus, Small hand, Clinodactyly, Hyperlordosis |
OMIM:181405 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger, Kyphosis, Arachnodactyly |
ORPHA:1883 |
2Q31.1 Microdeletion Syndrome |
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Camptodactyly of finger, Scoliosis, Abnormality of fibula morphology, Short neck, Ectrodactyly, F... |
ORPHA:251014 |
Mcdonough Syndrome |
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Scoliosis, Kyphosis |
ORPHA:2471 |
Schwartz-Jampel Syndrome |
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Scoliosis, Hip dysplasia, Spinal rigidity, Shoulder flexion contracture, Coxa vara, Short neck, O... |
ORPHA:800 |
Lateral Meningocele Syndrome |
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Craniofacial hyperostosis, Scoliosis, Short neck, Kyphosis, Joint hyperflexibility, Hyperlordosis... |
ORPHA:2789 |
Familial Hypocalciuric Hypercalcemia |
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Pancreatitis, Autoimmunity |
ORPHA:405 |
Martsolf Syndrome 1 |
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Osteopathia striata, Slender ulna, Tracheomalacia, Lumbar hyperlordosis, Finger joint hypermobili... |
OMIM:212720 |
Weaver Syndrome |
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Limited elbow extension, Camptodactyly, Scoliosis, Flared humeral metaphysis, Calcaneovalgus defo... |
OMIM:277590 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
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Scoliosis, Kyphosis |
ORPHA:99014 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgA level, Kyphosis, Osteopenia, Decreased circulating IgG level, Thrombocy... |
OMIM:212065 |
Gm1-Gangliosidosis, Type I |
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Vacuolated lymphocytes, Scoliosis, Joint stiffness, Short neck, Hypoplastic vertebral bodies, Kyp... |
OMIM:230500 |
Hereditary Orotic Aciduria |
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Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Spastic Paraplegia 53, Autosomal Recessive |
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Kyphosis, Joint hyperflexibility |
OMIM:614898 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Scoliosis, Osteolysis, Irregular vertebral endplates, Anemia, Kyphosis, Posterior scalloping of v... |
ORPHA:3042 |
Atypical Rett Syndrome |
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Short foot, Scoliosis, Kyphosis, Small hand |
ORPHA:3095 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
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Scoliosis, Thoracolumbar scoliosis, Kyphosis, Slender finger, Short 5th finger, Genu valgum, Smal... |
OMIM:618443 |
Hemifacial Atrophy, Progressive |
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Kyphosis |
OMIM:141300 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Scoliosis, Hip dislocation, Joint stiffness, Finger syndactyly, Synostosis of carpal bones, Kypho... |
ORPHA:1005 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Clinodactyly of the 5th fing... |
ORPHA:2916 |
Ullrich Congenital Muscular Dystrophy 1 |
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Scoliosis, Hip dislocation, Distal joint laxity, Increased laxity of fingers, Hyperextensibility ... |
OMIM:254090 |
Spastic Paraplegia 46, Autosomal Recessive |
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Scoliosis, Kyphosis |
OMIM:614409 |
Psoriasis 14, Pustular |
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Cholangitis, Leukocytosis, Oligoarthritis, Psoriasiform dermatitis, Neutrophilia, Pustule |
OMIM:614204 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
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Craniosynostosis, Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4... |
OMIM:618050 |
Chromosome 3Q13.31 Deletion Syndrome |
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Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Yellow Fever |
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