| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... |
OMIM:601859 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Immunodeficiency 25 |
|
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea... |
OMIM:610163 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... |
ORPHA:275 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Abnormal morpho... |
ORPHA:3344 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increased circulatin... |
OMIM:603909 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... |
OMIM:183849 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology |
OMIM:609529 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... |
OMIM:618048 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Elevated circulating par... |
OMIM:619073 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Hyperthyroidism, Rhe... |
ORPHA:48377 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
| Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Immunodeficiency 18 |
|
Recurrent otitis media, Defective T cell proliferation, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
| Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... |
OMIM:264700 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... |
ORPHA:48104 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Spa... |
OMIM:600081 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
| Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Ost... |
ORPHA:93160 |
| Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... |
OMIM:307800 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... |
OMIM:247800 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Polyarticular arthritis |
OMIM:235900 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... |
OMIM:277440 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... |
ORPHA:331235 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I... |
OMIM:619773 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
| Thymoma |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... |
ORPHA:99867 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocy... |
ORPHA:277 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Radioulnar ... |
OMIM:164900 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Chronic di... |
OMIM:619079 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Candida esophagitis, N... |
OMIM:619281 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulating IgG level, Autoimmunity, ... |
OMIM:618495 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, Rhizomelia, Sho... |
OMIM:618019 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... |
ORPHA:289157 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Stenosis of the medullary cavity of the... |
ORPHA:93324 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... |
OMIM:211350 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
| Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
| Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones |
ORPHA:57782 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
| Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i... |
OMIM:112350 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Micrognathia, Abnormal... |
ORPHA:3035 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Premature osteoarthritis, Limb joint contracture, Abnorma... |
ORPHA:93314 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Hyp... |
OMIM:241530 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
| Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... |
OMIM:615559 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Hyp... |
OMIM:300554 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Antiphospholipid antibody positivity, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Xerostomia... |
ORPHA:227990 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
| Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... |
OMIM:114000 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Polyarticular art... |
OMIM:617388 |
| Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... |
OMIM:301082 |
| Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Increa... |
OMIM:209950 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu... |
ORPHA:169079 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... |
OMIM:608728 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Splenomegaly, Osteoporosis, Abnormal B cell count, Osteolys... |
ORPHA:100024 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
| Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Abnormality of the ankles, Abnormal circulating interleukin... |
ORPHA:85410 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... |
OMIM:617006 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Antiphospholipid antibody positivity, Graves disease, Iridocyclitis, Rheumatoid arthritis, Leukop... |
ORPHA:227982 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... |
OMIM:184253 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections,... |
OMIM:601457 |
| Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:482 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Joint stiffness, Antiphospholipid antibody positivity, Increased circulating IgA level, Lymphopen... |
OMIM:615934 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Thin bony cortex, Broad thumb, Rhizomelia, Pes planus, Short 4th metacarpal, Shor... |
OMIM:619638 |
| Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... |
OMIM:616636 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Hepatomegaly, Lymphopenia, Splenomegaly, Eczema, Diarrhea, Atrophic gastritis, A... |
OMIM:616100 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, T lymphocytopenia, B lymphoc... |
OMIM:618108 |
| Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
| Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... |
ORPHA:443811 |
| Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Amegakary... |
OMIM:605432 |
| Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility |
ORPHA:399180 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... |
OMIM:608940 |
| Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
| Gamma-Heavy Chain Disease |
|
Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnormal lymphocyte m... |
ORPHA:100026 |
| Al-Gazali Syndrome |
|
Recurrent fractures, Bilateral talipes equinovarus, Proximal radio-ulnar synostosis, Micrognathia... |
OMIM:609465 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
| Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... |
ORPHA:2741 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Rheumatoid factor positive, Hypersplenism... |
ORPHA:3261 |
| Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Femoral bowing, Osteopenia, Increased susceptibility to fractures |
OMIM:615066 |
| Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Abnormal leukocyte morphology, Mandibular osteomyelitis, Osteomye... |
ORPHA:53 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Tube feeding, Decreased circulating IgA level, Decreased circulating IgE, Decreas... |
OMIM:619510 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... |
ORPHA:2878 |
| Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Plantar warts, B lymph... |
OMIM:618969 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Micro... |
OMIM:617866 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
| Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Rhyns Syndrome |
|
Radial bowing, Decreased response to growth hormone stimulation test, Osteopenia, Brachydactyly, ... |
OMIM:602152 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Limited pronation/supination of forearm, Madelung deformity |
DECIPHER:58 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis... |
OMIM:210720 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly |
ORPHA:294 |
| Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... |
ORPHA:83468 |
| Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Chronic oral can... |
OMIM:300400 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Autosomal Agammaglobulinemia |
|
High palate, Sepsis, Diarrhea, Malabsorption, Osteomyelitis, Dehydration, Arthritis, Hepatitis, R... |
ORPHA:33110 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
| Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
| Chilblain Lupus |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... |
ORPHA:90280 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Periosteal thickening of long tubular bones, Proximal phalangeal periosteal ... |
OMIM:161700 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the long bones, Osteolysis, Bo... |
OMIM:602080 |
| Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Death in childhood, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
| Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Micrognathia, Tombstone-shap... |
OMIM:108721 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Tibial bowing, Limitation of joint mobility, Abnormal iliac wing morphology... |
ORPHA:1427 |
| Severe Hemophilia A |
|
Joint hemorrhage, Joint swelling, Progressive joint destruction, Limitation of joint mobility, Pr... |
ORPHA:169802 |
| Mixed Connective Tissue Disease |
|
Joint swelling, Joint stiffness, Gastritis, Gastroesophageal reflux, Skin rash, Hepatomegaly, Spl... |
ORPHA:809 |
| Pachydermoperiostosis |
|
Abnormal epiphysis morphology, Osteolysis, Acne, Gastrointestinal hemorrhage, Joint swelling, Mal... |
ORPHA:2796 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
| Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Spa... |
OMIM:300009 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
| Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
| Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... |
OMIM:616005 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
| Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Decreas... |
ORPHA:1263 |
| Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Lymphopenia |
OMIM:300988 |
| Blount Disease, Adolescent |
|
Bowing of the legs, Genu varum |
OMIM:259200 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
| Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... |
OMIM:616740 |
| Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... |
OMIM:113470 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Autoimmunity |
OMIM:216950 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ab... |
ORPHA:166002 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Decreased circulating IgE, Decreased circulating IgA level, Sp... |
OMIM:308230 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... |
ORPHA:411593 |
| Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Cubitus valgus, Short foot, Madelu... |
ORPHA:314795 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Interphalangeal join... |
ORPHA:85435 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... |
OMIM:245160 |
| Acromesomelic Dysplasia 4 |
|
Metaphyseal irregularity, Broad phalanx, Short toe, Radial bowing, Short metatarsal, Short metaca... |
OMIM:619636 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... |
OMIM:619802 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, Atrophic gas... |
OMIM:616576 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Sepsis, Weight loss, Malabsorption, Osteomyelitis, Arthritis, Hepatitis, Anemia, Failur... |
ORPHA:47 |
| Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... |
OMIM:250400 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
| Hyperparathyroidism, Transient Neonatal |
|
Femoral bowing, Osteopenia, Short ribs |
OMIM:618188 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Hip contracture, Tracheomalacia, Flare... |
OMIM:156550 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
| Majeed Syndrome |
|
Joint swelling, Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Anemia of... |
OMIM:609628 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
| Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... |
ORPHA:209964 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimm... |
ORPHA:85414 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Joint swelling, Sclerosis of skull base, Systemic lupus erythematosus, Lymphopenia, Recurrent oti... |
OMIM:607944 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Neu... |
OMIM:608809 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... |
ORPHA:263665 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Otitis media, Diarrhea, Pneumonia, Erythroderma, Failure to thrive secondary to recurrent infecti... |
ORPHA:169160 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Craniosynostosis, Femoral bowing, Osteopenia, Short femoral neck, Narrow pelvis ... |
OMIM:616723 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... |
ORPHA:94089 |
| Farber Lipogranulomatosis |
|
Joint swelling, Failure to thrive, Cherry red spot of the macula, Splenomegaly, Hyperextensibilit... |
OMIM:228000 |
| X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased proportion of CD25+ ... |
ORPHA:2442 |
| Overlap Myositis |
|
Systemic lupus erythematosus, Subluxation of the small joints of the hand, Rheumatoid arthritis, ... |
ORPHA:206572 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Small hand, Anemia, Congenital hypoparathyroidism, Slender long bon... |
OMIM:244460 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
| Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
| Bruck Syndrome 2 |
|
Talipes equinovarus, Flexion contracture, Femoral bowing, Osteopenia, Elbow flexion contracture, ... |
OMIM:609220 |
| Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal dysplasia, Metaphyseal irregularity, Fra... |
ORPHA:319195 |
| Myasthenia Gravis |
|
Systemic lupus erythematosus, Hyperthyroidism, Anti-muscle-specific tyrosine kinase antibody, Rhe... |
ORPHA:589 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... |
ORPHA:2501 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Increased... |
OMIM:617099 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Wide anterior fontanel, Femoral retroversion, ... |
OMIM:610915 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Limb undergrowth, Absent ossification of calvaria, Broad long... |
OMIM:166210 |
| Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Flexion contracture, Arachnodactyly, Femoral bowing, Coronal craniosynost... |
OMIM:207410 |
| Immunodeficiency 31C |
|
Lymphopenia, Osteopenia, Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Au... |
OMIM:614162 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth |
OMIM:236640 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Aplasia/Hypoplasia of the radius, Madelung deformity, Ulnar bowing |
ORPHA:1765 |
| Immunodeficiency 43 |
|
Radial bowing, Decreased circulating IgG level, Hypoproteinemia, Hypoplasia of the ulna, Hypoalbu... |
OMIM:241600 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Femoral bowing, Osteopenia, Osteoporosis |
OMIM:126550 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Single transverse palmar crease, Elbow d... |
OMIM:210710 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormality of ... |
ORPHA:1802 |
| Wilson Disease |
|
Bone pain, Joint swelling, Failure to thrive, Bruising susceptibility, Acute hepatic failure, Spl... |
ORPHA:905 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Antinuclear antibody positivity, Inc... |
ORPHA:449400 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
| Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
| Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Abnormal B cell proliferation, Decreased circulat... |
OMIM:619652 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Vasculitis in the skin, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss,... |
OMIM:619381 |
| Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Failure to thrive, Decreased circulating IgA level, Constipation, Decreased circulat... |
OMIM:617062 |
| Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive |
ORPHA:79099 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Brachydactyly, Hyperphosphatemia, P... |
OMIM:603233 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
| Immunodeficiency 61 |
|
Malabsorption, Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, R... |
OMIM:300310 |
| Osteochondritis Dissecans |
|
Joint swelling, Joint stiffness, Decreased hip abduction, Quadriceps muscle atrophy, Abnormal mus... |
ORPHA:2764 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Talip... |
OMIM:619752 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Juvenile Idiopathic Arthritis |
|
Joint swelling, Malabsorption, Joint stiffness, Joint dislocation, Skin rash, Abdominal pain, Spl... |
ORPHA:92 |
| Progressive Pseudorheumatoid Dysplasia |
|
Joint swelling, Coxa vara, Joint stiffness, Joint contracture of the hand, Enlarged metacarpophal... |
OMIM:208230 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Arthralgia of the hip, Genu valgum, Pedal edema, Double-layered patella, Joint stiffness, Metaphy... |
ORPHA:166011 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized osteoporosis, Join... |
ORPHA:1159 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Xerostomia, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctiviti... |
OMIM:270150 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Anti-thyroid peroxidase antibody positivi... |
ORPHA:37042 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth a... |
ORPHA:89937 |
| Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Femoral bowing, Micrognathia, Thin bony cortex, Joint laxity, Bowing of the ... |
OMIM:617952 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
| Rheumatoid Arthritis |
|
Joint stiffness, Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positi... |
OMIM:180300 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, Aplastic anemia... |
OMIM:300635 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Testicular atrophy, Erectile dysfunction, Chronic hepatic failure, Weight los... |
ORPHA:465508 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Micrognathia, Decreased calvarial oss... |
OMIM:259420 |
| Panner Disease |
|
Joint swelling, Large elbow, Abnormality of the humerus, Limited elbow extension, Limited elbow m... |
ORPHA:97336 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Diarrhea, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae... |
ORPHA:276 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
| Cap Polyposis |
|
Constipation, Diarrhea, Hematochezia, Colorectal polyposis, Atrophic gastritis |
ORPHA:160148 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
| Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ma... |
ORPHA:1570 |
| Acromesomelic Dysplasia 1 |
|
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... |
OMIM:602875 |
| Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia, Long met... |
OMIM:600920 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Anauxetic Dysplasia 3 |
|
Wide anterior fontanel, Metaphyseal cupping, Femoral bowing, Trident hand, Brachydactyly, Genu va... |
OMIM:618853 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Hypoplastic pelvis, Hypoplastic sca... |
OMIM:618022 |
| Dubowitz Syndrome |
|
High palate, Craniosynostosis, Eczema, Rectal prolapse, Sandal gap, Cataract, Delayed skeletal ma... |
ORPHA:235 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Arthralgia of the hip, Knee pain, Premature osteoarthritis, Knee o... |
ORPHA:93284 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteopenia, Osteoporosis, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
| Hyperparathyroidism 4 |
|
Osteopenia, Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:617343 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Hypopho... |
OMIM:156400 |
| Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, Absent frontal... |
OMIM:311300 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Zika Virus Disease |
|
Lens subluxation, Skin rash, Subcutaneous hemorrhage, Maculopapular exanthema, Myelitis, Vomiting... |
ORPHA:448237 |
| Arteriosclerosis, Severe Juvenile |
|
Central fundal arteriolar microaneurysms, Hip dysplasia, Central retinal vessel vascular tortuosi... |
OMIM:208060 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Hypertrichosis, Dermatochalasis, Clinodactyly of the 3rd finger, Cone-shaped epiphysis, Diarrhea,... |
ORPHA:221139 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased circulating total IgM, Eczema... |
OMIM:243700 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Pseudo-fractures, In... |
ORPHA:289176 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
| Marshall Syndrome |
|
Clinodactyly of the 5th finger, Radial bowing, Hypoplastic ilia, Micrognathia, Clinodactyly of th... |
OMIM:154780 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital... |
ORPHA:453510 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
| Tularemia |
|
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Anemia, Leukocytos... |
ORPHA:3392 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Small abnormally formed scapulae, Short ribs, Femoral bowing, Hypoplast... |
OMIM:187600 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Cryptorchidism, Decreased response to growth hormone stimulation test, Small hand, ... |
OMIM:241410 |
| Immunodeficiency 98 With Autoinflammation, X |
