Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Immunodeficiency 18 |
|
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... |
OMIM:615615 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin resis... |
ORPHA:411593 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:601859 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... |
ORPHA:970 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity |
OMIM:612227 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... |
OMIM:265900 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... |
OMIM:300831 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:603909 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Cranio-Osteoarthropathy |
|
Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation o... |
ORPHA:1525 |
Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... |
OMIM:176920 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,... |
ORPHA:169079 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Splenome... |
OMIM:614470 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchie... |
OMIM:240500 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Short 4th met... |
OMIM:619638 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... |
ORPHA:90280 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... |
OMIM:618935 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod... |
ORPHA:1486 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... |
OMIM:177170 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
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 |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Autoimmunity, Chronic hepatitis due to cryp... |
ORPHA:572 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Slender long bones with narrow diaphyses, Dense metaphyseal bands |
ORPHA:50811 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneumonia, Sple... |
OMIM:618495 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Osteolytic defe... |
ORPHA:2484 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Splenomegaly,... |
ORPHA:158061 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Autoimmunity, Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulatin... |
ORPHA:98813 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na... |
ORPHA:540 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,... |
OMIM:618392 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Osteoporo... |
ORPHA:2796 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... |
OMIM:114000 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic le... |
OMIM:616005 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibo... |
ORPHA:397596 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... |
OMIM:615952 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Limb unde... |
OMIM:230600 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... |
OMIM:616871 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Anti-islet antigen-2 antibody positivity, Increased mean corpuscular volume, T-cell... |
OMIM:620044 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, B lymphocytope... |
OMIM:301078 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... |
ORPHA:93360 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Minimal change glomerulon... |
ORPHA:1830 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Vertebral compr... |
OMIM:617952 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... |
OMIM:613011 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Autoimmunity, Lymphocytosis |
ORPHA:79087 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, ... |
OMIM:613848 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Sho... |
OMIM:608154 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... |
ORPHA:48377 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Increased cir... |
ORPHA:3409 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... |
ORPHA:69663 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Pr... |
ORPHA:628 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Splenomegaly, Arthriti... |
ORPHA:61 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumonia, Decreased... |
OMIM:612301 |
Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Microcytic anemia |
OMIM:618805 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Autoimmunity, Anemia, Decreased circulating total IgM, Panniculitis, Decre... |
OMIM:615758 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Propionic Acidemia |
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Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytop... |
OMIM:606054 |
Hall-Riggs Syndrome |
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Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Sweet Syndrome |
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Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... |
ORPHA:3243 |
Pparg-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Insulin-res... |
ORPHA:79083 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Hepatomegaly, Hypoglycemia, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, ... |
OMIM:251000 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Chylous Ascites |
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Pancreatitis |
ORPHA:1160 |
Fibrous Dysplasia Of Bone |
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Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Ebola Hemorrhagic Fever |
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Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
Frank-Ter Haar Syndrome |
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Acne, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnormal metacar... |
ORPHA:137834 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
Osteopetrosis, Autosomal Dominant 1 |
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Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... |
OMIM:607634 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Dyggve-Melchior-Clausen Disease |
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Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
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Pancreatitis |
OMIM:618230 |
Spondyloepiphyseal Dysplasia Congenita |
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Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... |
ORPHA:94068 |
Autoimmune Lymphoproliferative Syndrome |
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Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
Benign Recurrent Intrahepatic Cholestasis |
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Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
Horizontal Gaze Palsy With Progressive Scoliosis |
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Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... |
ORPHA:171 |
Pgm3-Cdg |
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Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... |
ORPHA:443811 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Isolated Agammaglobulinemia |
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Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of neutrop... |
ORPHA:229717 |
Igg4-Related Aortitis |
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Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... |
ORPHA:449400 |
Gallbladder Disease 1 |
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Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
Selective Igm Deficiency |
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Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... |
OMIM:184252 |
Arthrogryposis, Distal, Type 4 |
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Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar s... |
OMIM:609128 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa va... |
OMIM:617425 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Microscopic Polyangiitis |
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Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... |
ORPHA:727 |
Immunodeficiency 96 |
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Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Immunodeficiency 32B |
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Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, Bronchiectasis,... |
OMIM:226990 |
Zimmermann-Laband Syndrome 3 |
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Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Osteogenesis Imperfecta, Type Ix |
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Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
Bruck Syndrome |
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Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... |
ORPHA:227982 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:79086 |
Familial Osteodysplasia, Anderson Type |
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Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Bifid fe... |
ORPHA:2769 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Sinusitis, Pneumonia,... |
ORPHA:83471 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Legionnaires Disease |
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Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellu... |
ORPHA:549 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
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Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... |
OMIM:600175 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Pneumonia, Short foot, Periodontitis, Reduction of neutrophil motility, Recurrent o... |
OMIM:266265 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu... |
OMIM:613179 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Brachydactyly, Kyphosis, Increased circulating IgE level, Hip dysplasia, Scoliosis, Hypoplastic i... |
ORPHA:1858 |
Bethlem Myopathy 2 |
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Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Pelger-Huet Anomaly |
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Eczema, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platel... |
OMIM:169400 |
Stüve-Wiedemann Syndrome |
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Osteopenia, Sacral dimple, Flexion contracture of finger, Bowing of the long bones, Camptodactyly... |
ORPHA:3206 |
Mody |
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Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Mucopolysaccharidosis, Type Iva |
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Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:253000 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Borjeson-Forssman-Lehmann Syndrome |
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Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, T lymphocytopenia... |
ORPHA:508533 |
Rothmund-Thomson Syndrome |
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Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Skin rash, Aplastic anem... |
ORPHA:2909 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine |
ORPHA:48431 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Increased circulating IgG level, Glucose in... |
ORPHA:2298 |
Gaucher Disease Type 1 |
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Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis... |
ORPHA:77259 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... |
OMIM:271510 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bro... |
OMIM:619752 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:617087 |
Pancreatitis, Hereditary |
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Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Seckel Syndrome 10 |
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Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... |
OMIM:617253 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
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Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Lenz-Majewski Hyperostotic Dwarfism |
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Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp... |
ORPHA:2658 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Acne, Anterior concavity of thoracic vertebrae, Kyphoscolio... |
OMIM:249420 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... |
ORPHA:293964 |
Oculodentodigital Dysplasia |
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Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Thymoma |
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Myositis, Aplastic anemia, Autoimmunity, Abnormal lymphocyte proliferation, Pure red cell aplasia... |
ORPHA:99867 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation |
ORPHA:85288 |
Spondyloperipheral Dysplasia |
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Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Cach Syndrome |
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Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
Rhizomelic Syndrome, Urbach Type |
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Brachydactyly, Acne, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Preaxial hand ... |
ORPHA:3098 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Osteopenia, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Periostitis, ... |
OMIM:612852 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
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Kyphosis, Hip dysplasia, Eczema |
OMIM:620007 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Scoliosis |
OMIM:618234 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... |
OMIM:618019 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Abnormal tibia morphology, Flexion con... |
ORPHA:666 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne... |
ORPHA:449395 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... |
OMIM:615607 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Autoimmunity |
OMIM:222100 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop... |
ORPHA:221016 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Sialidosis Type 2 |
|
Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Metaphyseal s... |
ORPHA:221008 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Tubulointerstitial... |
ORPHA:37042 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Osteoporosis, Slen... |
ORPHA:536467 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre... |
ORPHA:47 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... |
OMIM:615387 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Hip dislocation, Elbow flex... |
ORPHA:75840 |
Acute Lung Injury |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Abnormality of ... |
ORPHA:178320 |
Bullous Pemphigoid |
|
Diabetes mellitus, Psoriasiform dermatitis, Eczema, Autoimmunity |
ORPHA:703 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Long fi... |
OMIM:309583 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Antinuclear antibody posi... |
ORPHA:449563 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Anterior uveitis, Psoriasiform dermatitis, Skin rash, Generalized morning stif... |
ORPHA:85436 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density |
ORPHA:2617 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal canal stenosis,... |
ORPHA:582 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pancreatitis, Pericarditis |
ORPHA:188 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenism, Hypothyroidism, Anti... |
ORPHA:228426 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... |
ORPHA:2552 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,... |
OMIM:618986 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis |
ORPHA:796 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto... |
OMIM:607944 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Kyphosis, Hip dysplasia, Talipes equinovarus, Scoliosis, Hand cle... |
OMIM:611890 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tubular bones, Hyp... |
OMIM:253010 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Scoliosis, Broad ... |
OMIM:277600 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal... |
ORPHA:536471 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Large hands, Scoliosis, Tapered finger |
ORPHA:276630 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... |
OMIM:209920 |
Masa Syndrome |
|
Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis |
OMIM:303350 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, ... |
ORPHA:1798 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Autoimmunity, Splenomegaly, Recurrent pneumo... |
ORPHA:47612 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis |
ORPHA:505652 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Decreased circulating total IgM, Scoliosis, Decreased circulating IgG level, Decreased ... |
OMIM:300861 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... |
ORPHA:536516 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... |
ORPHA:93126 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pituitary hypothyroidism, Decreased propor... |
ORPHA:66628 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Nephritis, Pancreatitis... |
ORPHA:449427 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis, Decreased circulating antibody level |
ORPHA:85317 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Abscess, Pneumonia, Erythema nodosum, Abnor... |
ORPHA:228123 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Gout, In... |
OMIM:232220 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Spina bifida occulta |
ORPHA:2983 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Kyphosis, Abnormal form of the v... |
ORPHA:3219 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pituitary hypothyroidism, Decreased propor... |
ORPHA:179494 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp... |
ORPHA:15 |
Flynn-Aird Syndrome |
|
Kyphosis, Bone cyst, Scoliosis, Joint stiffness |
ORPHA:2047 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Scoliosis, Anterior beakin... |
ORPHA:93 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped distal phalanges o... |
ORPHA:73230 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... |
ORPHA:1652 |
Geroderma Osteodysplasticum |
|
Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Recurrent fract... |
OMIM:231070 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Antinucl... |
ORPHA:470 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Short metatarsal, Spin... |
OMIM:608328 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma |
OMIM:145001 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Eczema, Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrog... |
ORPHA:352490 |
Roifman Syndrome |
|
Eczema, Eosinophilia, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega... |
ORPHA:353298 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rhe... |
ORPHA:85414 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint stiffness, Genu valgum... |
OMIM:252605 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... |
OMIM:607014 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... |
ORPHA:3226 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Chronic neutropenia, Enterocolitis, Gout, Hepatoce... |
ORPHA:79259 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... |
ORPHA:64744 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus... |
OMIM:618484 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Brachydactyly, Rhizomelia, Hyperlordosis, Hypoplast... |
ORPHA:763 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, S... |
ORPHA:583 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Splenomegaly, Abnormal form of... |
ORPHA:354 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Arachnodactyly, Scoliosis, Joint stiffness |
ORPHA:1548 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... |
ORPHA:140 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Platyspondyl... |
OMIM:605822 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
Zygomycosis |
|
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Diabetes mellitus, Pustule, Myocard... |
ORPHA:73263 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumula... |
ORPHA:20 |
Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Chol... |
ORPHA:562 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Vacuolated l... |
ORPHA:565612 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... |
ORPHA:444490 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Chilblains, Portal hyperte... |
OMIM:619487 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand... |
OMIM:620083 |
Faciocardiomelic Syndrome |
|
Osteopenia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypoplastic pelvis, T... |
OMIM:612731 |
Stuve-Wiedemann Syndrome 1 |
|
Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx o... |
OMIM:601559 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Inflammatory abnormality of the eye, Scoliosis, Joint stiffness |
ORPHA:816 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Kyphosis, Scoliosis |
ORPHA:2598 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Hypoglycemia, Orc... |
ORPHA:99826 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... |
OMIM:619727 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Prostatitis, G... |
ORPHA:900 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Eczema, Thrombocyt... |
ORPHA:3260 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ... |
OMIM:618291 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda... |
ORPHA:178148 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Pancreatitis, Anemia |
ORPHA:370348 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... |
ORPHA:392 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ... |
ORPHA:90033 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase... |
OMIM:617099 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Dysbetalipoproteinemia |
|
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Diabetes mellitus, Gout, Hypothyroidism |
ORPHA:412 |
Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture |
OMIM:618237 |
3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hyperlordosis... |
ORPHA:2616 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Recurrent pneumo... |
OMIM:619644 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis |
OMIM:232200 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... |
OMIM:618476 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Joint hypermobility, Kyph... |
OMIM:619951 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Adult-Onset Still Disease |
|
Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Myocarditis, Splenomegaly, Le... |
ORPHA:829 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ... |
OMIM:253220 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Short foot, Scolio... |
OMIM:615547 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Clinodactyly of the 5th finger, Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:615834 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... |
OMIM:619797 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphysis, Arthritis... |
OMIM:108300 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol... |
ORPHA:90038 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Tali... |
OMIM:300280 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal crease, Distal arthrogryposi... |
OMIM:108145 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr... |
OMIM:616294 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... |
OMIM:614576 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
Clark-Baraitser syndrome |
|
Joint laxity, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis |
ORPHA:26791 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, C... |
ORPHA:3121 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis |
ORPHA:247585 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Cholangitis, Retroperitoneal fibros... |
ORPHA:449432 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Acute colitis, Diabetes mellitus, Pneumonia, Myocarditis, Leukoc... |
ORPHA:544482 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... |
OMIM:151660 |
Crimean-Congo Hemorrhagic Fever |
|
Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbil... |
ORPHA:99827 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm |
ORPHA:238750 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Genu ... |
ORPHA:2479 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
OMIM:617435 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Recurrent pancreatitis, Type II diabetes mellitus, Type I ... |
ORPHA:550 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... |
OMIM:260920 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Joint contracture, Osteoporosis, Scoliosis |
OMIM:615381 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Joint hyperflexibility |
ORPHA:319199 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Scoliosi... |
ORPHA:254346 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal hip bone morphology, Abno... |
ORPHA:2522 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Scoliosis |
OMIM:618124 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyphosc... |
ORPHA:536532 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T... |
ORPHA:192 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia |
OMIM:222700 |
Subaortic Stenosis-Short Stature Syndrome |
|
Acne, Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones |
ORPHA:3191 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... |
ORPHA:342 |
Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Bowing of... |
ORPHA:1855 |
Mulibrey Nanism |
|
Thickened cortex of long bones |
OMIM:253250 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Oste... |
OMIM:620351 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis |
OMIM:255200 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti... |
OMIM:259770 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:265000 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... |
ORPHA:117 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Conjunctivitis, Pancreatitis, Anemia |
ORPHA:36426 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno... |
ORPHA:261318 |
Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Short toe, Brachydactyly, Hyperlordosis |
ORPHA:3085 |
Mgat2-Cdg |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Decreased circu... |
ORPHA:79329 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... |
ORPHA:93274 |
Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Congenital foo... |
OMIM:314580 |
Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... |
ORPHA:723 |
Toxic Epidermal Necrolysis |
|
Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:537 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Short neck, Hypoplastic... |
ORPHA:955 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Hip dislocation, Genu ... |
ORPHA:171436 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Gout, Inflammat... |
OMIM:232240 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Abnormal toe morp... |
ORPHA:94065 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Sandal gap, Kyphosis, Small hand, Short foot, Brachydactyly |
OMIM:300354 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Achilles... |
OMIM:301041 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... |
ORPHA:2911 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Baralle-Macken Syndrome |
|
Kyphosis, Tapered finger |
OMIM:619255 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Brachydactyly, Hypoplastic scapulae, Aplastic clavicle, Short mid... |
OMIM:119600 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi... |
OMIM:608594 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Eczema, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent pro... |
OMIM:300966 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Abnormally ossified vertebrae, Incr... |
ORPHA:800 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Talipes equinovarus, Sco... |
OMIM:181405 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... |
OMIM:618268 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Hyperinsulinemia, Insuli... |
OMIM:269700 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis |
ORPHA:1545 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Kyphosis, Split hand... |
ORPHA:958 |
Alstrom Syndrome |
|
Chronic active hepatitis, Kyphosis, Recurrent pneumonia, Tubulointerstitial nephritis, Hyperostos... |
OMIM:203800 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:219080 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Kyphosis, Hip dislocation, Short neck |
OMIM:608776 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Scoliosis |
OMIM:248800 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
Martsolf Syndrome 1 |
|
Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Metatarsus adductus, Sl... |
OMIM:212720 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Scoliosis |
ORPHA:464282 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Scoliosis,... |
OMIM:613658 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
Atypical Rett Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
ORPHA:3095 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis, Autoimmunity |
ORPHA:405 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Joint hyperflexibility |
OMIM:614898 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Femoral bowing, Tibial bowing, Platysp... |
OMIM:616482 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Kyphosis, Flexion contracture, Thrombocytosis, Decreased circulating Ig... |
OMIM:212065 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ... |
OMIM:618443 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Osteolysis, Abnormal form of the verte... |
ORPHA:3042 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Hip dislocation, Vertebral segmentat... |
ORPHA:1005 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebra... |
OMIM:230500 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618050 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal form of the verte... |
ORPHA:2916 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis |
OMIM:619718 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Jaundice, Pancreatic hyperplasia, Incr... |
ORPHA:99829 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Kyphosis, Acromicria, Osteoporosis, Small hand, Genu valgum, Short foot, ... |
OMIM:176270 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Neutropenia, Slender toe... |
ORPHA:193 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal form of th... |
ORPHA:2050 |
Sialidosis Type 1 |
|
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro... |
OMIM:106300 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bo... |
ORPHA:488434 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... |
ORPHA:2311 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Kyphosis... |
ORPHA:85293 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... |
ORPHA:3472 |
Mucopolysaccharidosis, Type Ii |
|
Short neck, Kyphosis, Splenomegaly, Split hand, Recurrent pneumonia, Flexion contracture, Hepatos... |
OMIM:309900 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Achilles tendon... |
ORPHA:98863 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies |
OMIM:219090 |
Emanuel Syndrome |
|
Chronic oral candidiasis, Sacral dimple, Congenital hip dislocation, Kyphosis, Recurrent sinusiti... |
OMIM:609029 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... |
ORPHA:98855 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joi... |
OMIM:607015 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Mucolipidosis Type Ii |
|
Hip contracture, Craniosynostosis, Limited wrist movement, Kyphosis, Splenomegaly, Limitation of ... |
ORPHA:576 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Congenital contracture, Talipes equi... |
OMIM:248700 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly of the 5th fing... |
OMIM:617061 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy... |
OMIM:269150 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Biconcave vertebral b... |
OMIM:130720 |
Cowden Syndrome 1 |
|
Kyphosis, Thyroiditis, Decreased circulating antibody level, Scoliosis, Lymphopenia |
OMIM:158350 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly |
ORPHA:314588 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... |
ORPHA:98853 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphal... |
OMIM:618223 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Kyphosis, Long fingers... |
OMIM:616914 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad... |
ORPHA:404440 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Kyphosis, Hip dysplasia, Increased mean corpuscular volume, Scoliosi... |
ORPHA:261250 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Microcytic anemia |
ORPHA:324737 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Scoli... |
ORPHA:3378 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Metatarsus adductus, ... |
ORPHA:2215 |
3C Syndrome |
|
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Abnormal hip... |
ORPHA:7 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu valgum, Finger jo... |
OMIM:618493 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... |
ORPHA:2062 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function, Hepatomegaly |
OMIM:201100 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Kyphosis, Short thumb, Spli... |
ORPHA:280 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... |
ORPHA:733 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Arachnodactyly, Hyperextensibility of the finger joints, Scoliosis |
OMIM:609008 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Alexander Disease |
|
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Infectious encephalitis |
ORPHA:58 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Small hand, Short foot, Hip dysplasia, S... |
ORPHA:398069 |
Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation, Spinal canal sten... |
ORPHA:828 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis |
ORPHA:394 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, C... |
OMIM:242840 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Kyphosis, Capitate-hamate fusion,... |
OMIM:304150 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Flexion contracture, Uveitis, Conjunctivitis, Scoliosis |
ORPHA:90322 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Coronal cranio... |
OMIM:603116 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Kyphosis, Recurrent pneumonia, Deviation of the 2nd finger, 2... |
ORPHA:464738 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Reduced alpha/beta synthesis ratio, Hemiver... |
OMIM:301040 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Acne, Scoliosis |
ORPHA:261190 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Eczema, Kyphosis, Hip dislocation, Hip dysplasia, Scoliosis, Pro... |
OMIM:610443 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia, Abnormality of the medull... |
OMIM:127000 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap... |
ORPHA:1507 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Severe periodontitis, Overlapping toe, Microcytic anemia, Keratitis, Leukocytosis, ... |
ORPHA:99843 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal lymph node morphology, Anemia |
ORPHA:54251 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:99880 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Joint hypermobility |
OMIM:617988 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Kyphosis, Normochromic anem... |
OMIM:615512 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:143 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Aplasia of the 1st... |
ORPHA:476126 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Triphalangeal thumb, Contracture of the... |
ORPHA:2232 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shoulder morphology... |
ORPHA:568 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type... |
OMIM:606721 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... |
ORPHA:96169 |
Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Bilatera... |
OMIM:619708 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... |
OMIM:249100 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Eczema, Aplastic clavicle, Kyphosis, Coronal craniosynostosis |
ORPHA:85199 |
Scorpion Envenomation |
|
Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia |
ORPHA:466677 |
Noonan Syndrome 14 |
|
Short neck, Kyphosis, Clinodactyly, Lymphopenia, Limited elbow extension |
OMIM:619745 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly |
ORPHA:261222 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Scoliosis |
OMIM:616449 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, J... |
OMIM:617602 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Generalized joint laxity, Coxa vara, Slen... |
ORPHA:2834 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Kyphosis, Scoliosis |
ORPHA:364028 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Slender to... |
ORPHA:3063 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Abnormality of T cell physiology, Psoriasiform dermatitis |
ORPHA:2237 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Chronic pancreatitis |
OMIM:307030 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpals, Short hall... |
OMIM:194190 |
2P15P16.1 Microdeletion Syndrome |
|
Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, Scoliosis, To... |
ORPHA:261349 |
Dystonia 1, Torsion, Autosomal Dominant |
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Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Iridocyclitis, Bronch... |
OMIM:181000 |
Robinow Syndrome, Autosomal Dominant 3 |
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Syndactyly, Sacral dimple, Short neck, Kyphosis, Scoliosis, Mesomelia, Clinodactyly, Short phalan... |
OMIM:616894 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... |
ORPHA:99413 |
Turner Syndrome |
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Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... |
ORPHA:881 |
Mosaic Monosomy X |
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Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... |
ORPHA:99228 |
Monosomy X |
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Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... |
ORPHA:99226 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Pelizaeus-Merzbacher Disease |
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Kyphosis, Scoliosis, Joint stiffness |
ORPHA:702 |
Oculocerebrorenal Syndrome Of Lowe |
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Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Hip dislocation, Cheilitis, Genu va... |
ORPHA:534 |
Alkaptonuria |
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Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... |
OMIM:203500 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Joint laxity, Prominent fingertip pads, Sacral dimple, Anomaly of lower limb diaphyses, Arachnoda... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Joint laxity, Prominent fingertip pads, Sacral dimple, Anomaly of lower limb diaphyses, Arachnoda... |
ORPHA:363958 |
Marfan Syndrome |
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Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky... |
ORPHA:558 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
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Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:617143 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
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Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
Rett Syndrome |
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Short foot, Kyphosis, Scoliosis |
OMIM:312750 |
Genitopalatocardiac Syndrome |
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Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly |
ORPHA:2075 |
Lowe Oculocerebrorenal Syndrome |
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Osteomalacia, Camptodactyly of finger, Kyphosis, Rickets, Hip dislocation, Genu valgum, Platyspon... |
OMIM:309000 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic rhinitis, Allergic conjunctivitis, Diabetes mellitus, Impaired T cell function |
OMIM:176690 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hallux valgus, Toe syndactyly, Arachnodactyly, Eczema, Multiple joint contractures, Kyphosis, Pol... |
ORPHA:464306 |
Cowden Syndrome 5 |
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Kyphosis, Thyroiditis, Scoliosis |
OMIM:615108 |
Plaa-Associated Neurodevelopmental Disorder |
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Hyperextensibility of the finger joints, Rocker bottom foot, Kyphosis, Postaxial hand polydactyly... |
ORPHA:521426 |
Orofaciodigital Syndrome Iii |
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Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Kyphosis, Scoliosis |
ORPHA:261144 |
Cockayne Syndrome B |
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Kyphosis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalan... |
OMIM:133540 |
Proteus Syndrome |
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Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Craniosynostosis, Metatarsus ... |
ORPHA:744 |
Cowden Syndrome 6 |
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Kyphosis, Thyroiditis, Scoliosis |
OMIM:615109 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... |
OMIM:216340 |
Aspartylglucosaminuria |
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Joint laxity, Acne, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Ne... |
OMIM:208400 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Elbow flexion contractur... |
OMIM:619194 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h... |
ORPHA:97685 |
Micro Syndrome |
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Kyphosis, Scoliosis, Joint stiffness |
ORPHA:2510 |
Mosaic Trisomy 20 |
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Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large joints |
OMIM:617527 |
Autosomal Recessive Ataxia, Beauce Type |
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Kyphosis, Scoliosis |
ORPHA:88644 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Kyphosis, Scoliosis |
OMIM:211530 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Hyperthyroidism, Acne, Autoimmunity, Impaired T cell function, Seborrheic der... |
ORPHA:567 |
Cockayne Syndrome A |
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Hip contracture, Kyphosis, Splenomegaly, Limitation of joint mobility, Ivory epiphyses of the pha... |
OMIM:216400 |
Pontocerebellar Hypoplasia, Type 17 |
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Kyphosis |
OMIM:619909 |
Postencephalitic Parkinsonism |
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Kyphosis, Camptocormia |
ORPHA:97349 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand ... |
ORPHA:818 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Decreased hemoglobin concentration, Kyphosis, Increased femoral anteversion, Scoliosis, Thrombocy... |
OMIM:619005 |
Atelis Syndrome 2 |
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Sacral dimple, Kyphosis, Anemia, Clinodactyly, Thrombocytopenia |
OMIM:620185 |
Cowden Syndrome |
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Kyphosis, Bone cyst, Scoliosis, Brachydactyly |
ORPHA:201 |
Wrinkly Skin Syndrome |
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Osteopenia, Congenital hip dislocation, Kyphosis, Coxa vara, Slender long bone, Talipes equinovar... |
OMIM:278250 |
Zttk Syndrome |
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Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Small hand, Short foot, Scoliosis... |
OMIM:617140 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co... |
ORPHA:464311 |
Marden-Walker Syndrome |
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Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adductus, Kyphosis, Abnormal... |
ORPHA:2461 |
Multiple Endocrine Neoplasia, Type Iib |
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Joint laxity, Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis |
OMIM:162300 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Abnormal pelvis bone morphology, Eczema, Camptodactyly of finger, Keratitis, Kyphos... |
ORPHA:2273 |
Velocardiofacial Syndrome |
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Hypoparathyroidism, Impaired T cell function |
OMIM:192430 |
Neurofibromatosis Type 1 |
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Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Chronic myelogenous leukemia, Slende... |
ORPHA:636 |
Fucosidosis |
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Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Monosomy 9Q22.3 |
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Short neck, Kyphosis, Joint hyperflexibility, Abnormality of the vertebral column, Polydactyly |
ORPHA:77301 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis |
OMIM:617011 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis |
OMIM:619244 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Kyphosis, Finger syndactyly, Scoliosis, Genu varum |
ORPHA:1969 |
Alström Syndrome |
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Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h... |
ORPHA:64 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Radial deviation of finger |
OMIM:609944 |
Rett Syndrome, Congenital Variant |
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Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Scoliosis |
OMIM:177850 |
Mend Syndrome |
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Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac... |
OMIM:300960 |
Mend Syndrome |
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Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Hand po... |
ORPHA:401973 |
Williams Syndrome |
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Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of... |
ORPHA:904 |
Primrose Syndrome |
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Hip contracture, Joint hypermobility, Metatarsus adductus, Kyphosis, Flexion contracture, Osteopo... |
OMIM:259050 |
Viss Syndrome |
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Chronic gastritis, Generalized joint laxity, Increased circulating IgG level, Long toe, Joint lax... |
OMIM:619472 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Joint laxity, Osteomyelitis, Kyphosis, Abnormal curvature of the vertebral column, Gen... |
OMIM:619475 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Acromegaly |
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Acne, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Large hands,... |
ORPHA:963 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, Spinal canal steno... |
ORPHA:1606 |
Cockayne Syndrome |
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Kyphosis, Splenomegaly, Contractures of the large joints, Keratoconjunctivitis sicca, Congenital ... |
ORPHA:191 |
Cockayne Syndrome Type 3 |
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Splenomegaly, Kyphosis, Flexion contracture, Keratoconjunctivitis sicca, Scoliosis |
ORPHA:90324 |
Digeorge Syndrome |
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Hepatic steatosis, Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent... |
OMIM:188400 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitation of joint... |
ORPHA:457359 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Polydactyly, 2-4... |
ORPHA:268261 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of... |
OMIM:135900 |
Somatomammotropinoma |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Large hands, Corti... |
ORPHA:314769 |
Sotos Syndrome |
|
Joint laxity, Sacrococcygeal teratoma, Hip contracture, Craniosynostosis, Ankle flexion contractu... |
ORPHA:821 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Conjunctivitis |
OMIM:153400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phal... |
OMIM:300967 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Aspiration pneumonia |
OMIM:619482 |
Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Tracheomalacia |
ORPHA:1393 |
Ramon Syndrome |
|
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis |
OMIM:266270 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Preaxial hand poly... |
OMIM:113620 |