Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical... |
ORPHA:1802 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Thickened cortex of long bones, Scoliosis |
ORPHA:53697 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Abnormal enchondral ossification, Kyphosis, Abnormal rib... |
ORPHA:2635 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical b... |
ORPHA:970 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Osteochondrosis Of The Metatarsal Bone |
|
Chondritis, Thickened cortex of bones, Sclerosis of foot bone |
ORPHA:564003 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Pyle Disease |
|
Platyspondyly, Scoliosis, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... |
OMIM:144750 |
Ck Syndrome |
|
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Hyperlordosis |
OMIM:300831 |
Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... |
OMIM:176920 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies... |
ORPHA:1486 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortical bone morphology, An... |
ORPHA:3344 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Abno... |
ORPHA:79106 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Thoracic kyphosis, Thin bony cortex |
OMIM:619638 |
Familial Expansile Osteolysis |
|
Osteolysis, Thin bony cortex |
OMIM:174810 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Ollier Disease |
|
Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspondyly, Anemia |
ORPHA:296 |
Caffey Disease |
|
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin... |
OMIM:114000 |
Osteogenesis Imperfecta, Type Xxii |
|
Multiple small vertebral fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Decreased skull ossification, Abnormal rib morphology |
ORPHA:2097 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology |
ORPHA:166277 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... |
OMIM:607634 |
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 |
Osteogenesis Imperfecta, Type Xviii |
|
Vertebral compression fracture, Thin ribs, Biconcave vertebral bodies, Generalized osteoporosis, ... |
OMIM:617952 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti... |
OMIM:240500 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the costochondral junction, Delayed epiphyseal ossification, Rickets, Bulging of t... |
OMIM:600081 |
Gorham-Stout Disease |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving bones... |
ORPHA:73 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Sea-blue histiocytosis, Scoliosis, Tho... |
OMIM:230600 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Broad... |
ORPHA:85184 |
Cranio-Osteoarthropathy |
|
Abnormal cortical bone morphology |
ORPHA:1525 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Abnormal rib morphology, Osteolytic defects of the phalanges of the ha... |
ORPHA:2484 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na... |
ORPHA:540 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the costochondral junction, Delayed epiphyseal ossification, Rickets, Bulging of t... |
OMIM:241530 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Increased bone mineral density, Lumbar hyperlordosis, K... |
ORPHA:93284 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Cortical sclerosis, Generalized osteosclerosi... |
ORPHA:210110 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Scoliosis, Scle... |
ORPHA:85188 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Acute Lung Injury |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Abnormality of ... |
ORPHA:178320 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Thin ribs, Decreased calvarial ossificati... |
OMIM:613848 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... |
OMIM:618986 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the costochondral junction, Delayed epiphyseal ossification, Rickets, Bulging of t... |
OMIM:264700 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Familial Osteodysplasia, Anderson Type |
|
Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis... |
ORPHA:2769 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... |
OMIM:300554 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Rickets... |
ORPHA:289157 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Sparse bone trab... |
OMIM:277440 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In... |
ORPHA:158061 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... |
OMIM:308230 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal... |
ORPHA:2347 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... |
ORPHA:276 |
Pachydermoperiostosis |
|
Splenomegaly, Osteoporosis, Osteolysis, Scoliosis, Abnormal cortical bone morphology, Anemia |
ORPHA:2796 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology |
OMIM:614886 |
Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:300009 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612301 |
Kniest Dysplasia |
|
Short neck, Hypoplasia of the odontoid process, Delayed epiphyseal ossification, Vertebral wedgin... |
ORPHA:485 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Kyphoscoliosis, Osteoporosis, Osteolysis involving tarsal bones, Metatarsal osteolysi... |
OMIM:259600 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis, Broad ribs, Thin bony cortex |
OMIM:277600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Kyphoscoliosis, Short neck, Osteoporosis, Scoliosis, Vertebral compression fracture, Thin bony co... |
OMIM:309583 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma... |
OMIM:209920 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coronal cleft vertebrae, Platyspondyly, Lumbar kypho... |
OMIM:156550 |
Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Oculodentodigital Dysplasia |
|
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Abnormal form of the verte... |
ORPHA:2710 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Kyphosis, Cranial hyperostosis, Osteopetrosis, Scoliosis, Facial ... |
ORPHA:2658 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Sacral dimple, Osteoporosis, Scoliosis, Abnormal cortical bone morphology, Thickened ... |
ORPHA:3206 |
Faciocardiomelic Syndrome |
|
Osteopenia, Cuboid-shaped vertebral bodies, Thin bony cortex |
OMIM:612731 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Wide anterior fontanel, Kyp... |
OMIM:249420 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Epiphyseal stippling, Abnormal cartilage matrix, Abnormal bone structure |
ORPHA:86822 |
Spondyloocular Syndrome |
|
Osteopenia, Vertebral compression fracture, Platyspondyly, Thin bony cortex |
OMIM:605822 |
Dent Disease |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
ORPHA:1652 |
Osteogenesis Imperfecta |
|
Osteopenia, Multiple rib fractures, Cervical kyphosis, Kyphosis, Osteoporosis, Abnormal rib morph... |
ORPHA:666 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, N... |
ORPHA:2909 |
Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Sclerosis of skull base, Platyspondyly, Broad ribs, Thin bony cortex |
OMIM:619727 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Aspartylglucosaminuria |
|
Splenomegaly, Scoliosis, Anterior beaking of lumbar vertebrae, Beaking of vertebral bodies, Abnor... |
ORPHA:93 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis, Broad ribs, Thin bony cortex |
OMIM:608328 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Mulibrey Nanism |
|
Thickened cortex of long bones |
OMIM:253250 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Thin bony cortex, Pancytopenia, Rickets, Reduced bone mineral density, Scoliosis, Anemia |
OMIM:613658 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Abnormal rib morphology, Spina bifida occulta, Thickened cortex of long b... |
ORPHA:488434 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Impaired T cell function, Decreased lymphocyte proliferation in response to... |
OMIM:613179 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymphocyte prolifer... |
ORPHA:83471 |
Alkaptonuria |
|
Intervertebral disk calcification, Cartilage destruction, Calcification of cartilage, Reduced bon... |
ORPHA:56 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix |
OMIM:245650 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis |
ORPHA:2396 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Adult-Onset Still Disease |
|
Cartilage destruction, Splenomegaly, Leukocytosis, Neutrophilia |
ORPHA:829 |
Stuve-Wiedemann Syndrome 1 |
|
Ovoid vertebral bodies, Short neck, Osteoporosis, Thin ribs, Scoliosis, Thickened cortex of long ... |
OMIM:601559 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology |
ORPHA:1830 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Leukocytosis,... |
ORPHA:544482 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Splenopancreatic fusion, Hy... |
OMIM:269150 |
Multiple Osteochondromas |
|
Neuropathic spinal arthropathy, Abnormal cartilage morphology, Rib exostoses, Abnormal bone struc... |
ORPHA:321 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation... |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Kyphosis, Osteoporosis, Osteolysis, Abnormality of the vertebral column, Beaking of v... |
ORPHA:97685 |
Moderate Hemophilia A |
|
Cartilage destruction |
ORPHA:169805 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function |
ORPHA:567 |
Reactive Arthritis |
|
Cartilage destruction |
ORPHA:29207 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |