Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... |
OMIM:614372 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Drug Metabolism, Poor, Cyp2D6-Related |
|
Neoplasm |
OMIM:608902 |
Adamantinoma Of Long Bones |
|
Neoplasm |
OMIM:102660 |
Cancer, Familial, With In Vitro Radioresistance |
|
Neoplasm |
OMIM:114450 |
Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Neoplasm |
OMIM:132800 |
Nasopharyngeal Carcinoma, Susceptibility To, 2 |
|
Neoplasm |
OMIM:161550 |
Immunodeficiency 53 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent otitis media |
OMIM:617585 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Acroosteolysis |
|
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes |
OMIM:102400 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Antalgic gait, Delayed femoral head ossification, Enlarged tonsils, Leukocytosis, Multicentric fe... |
ORPHA:168621 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... |
OMIM:613860 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis |
OMIM:613737 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... |
ORPHA:1802 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Immunodeficiency 20 |
|
Severe varicella zoster infection, BCGitis, Reduced natural killer cell activity, Recurrent oral ... |
OMIM:615707 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis |
OMIM:174810 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Medial Condensing Osteitis Of The Clavicle |
|
Patchy reduction of bone mineral density, Limited shoulder movement |
ORPHA:57196 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Osteolysis, Abnormal hip ... |
ORPHA:970 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... |
OMIM:608106 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... |
OMIM:611497 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Impaired pain sensation, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... |
ORPHA:3416 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia |
OMIM:615561 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Abnormality of the fifth metatarsal bone, Flattened met... |
ORPHA:564003 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis |
OMIM:616871 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... |
ORPHA:53697 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... |
ORPHA:70578 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... |
OMIM:613500 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Joint stiffness, Abnormal diaphysis morphology |
ORPHA:2028 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections, Osteomyelit... |
OMIM:615978 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Diarrhea, Fasciitis, Elevated circulating creatine kinase concentr... |
ORPHA:36234 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... |
OMIM:300310 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... |
OMIM:300400 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Lymphadenitis, Salmonella osteomyelitis, ... |
ORPHA:319552 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cyanosis, Respiratory tract infection, Atelectasis, Pulmonary edema, Cardiac arrest,... |
ORPHA:70587 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Eosinophilia |
ORPHA:482 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Abnorm... |
ORPHA:668 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Diarrhea, Abnormality of serum cytokine level, Elevated hepatic transaminase, Heart ... |
ORPHA:542323 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
Hyaline Fibromatosis Syndrome |
|
Flexion contracture, Progressive flexion contractures, Osteolysis, Osteopenia, Osteoporosis |
OMIM:228600 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... |
OMIM:607115 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia |
OMIM:610181 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... |
ORPHA:3344 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Immunodeficiency 104 |
|
Recurrent opportunistic infections, Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Eczema,... |
OMIM:608971 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... |
OMIM:609655 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity |
OMIM:608898 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Osteolysis, Osteoporosis, Splenomegaly |
ORPHA:100024 |
Cyclic Neutropenia |
|
Respiratory tract infection, Enterocolitis, Perianal abscess, Periodontitis, Opportunistic infect... |
ORPHA:2686 |
Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... |
OMIM:613501 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Difficulty walking, Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Impaired Ig class switch recombination, Recurrent bacterial infect... |
OMIM:608184 |
Gorham-Stout Disease |
|
Abnormal bone ossification, Osteomyelitis, Abnormal finger morphology, Osteolysis involving bones... |
ORPHA:73 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis |
OMIM:300455 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... |
OMIM:612692 |
Fusariosis |
|
Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Unusual CNS infection, Pleural effusi... |
ORPHA:228119 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia |
ORPHA:158014 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Talo-Patello-Scaphoid Osteolysis |
|
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... |
ORPHA:50809 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Chronic infection, Elevated transferrin saturation, Hepatocellular c... |
ORPHA:139507 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Onychomycosis, Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymph... |
ORPHA:217390 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive T cells, Decreased prop... |
OMIM:300853 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa... |
OMIM:618849 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... |
ORPHA:275 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Osteopenia, Eosinophilia, Mono... |
ORPHA:486 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Unsteady gait, Eosinophilia |
OMIM:618092 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Slender long bone, Limitation of joint mobility, Metacarpal osteolysis, ... |
ORPHA:2774 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short foot, Abnormal cortical bone morphology, Limitation of joint mobili... |
ORPHA:166277 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pedal edema, Diarrhea, Pulmonary edema, Multiple myeloma, Pleural effusion, Pericard... |
ORPHA:188 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:232 |
Necrotizing Enterocolitis |
|
Hypotension, Bloody diarrhea, Vomiting, Neonatal sepsis, Diarrhea, Apnea, Shock, Edema, Thrombocy... |
ORPHA:391673 |
Ollier Disease |
|
Osteolysis, Joint stiffness, Anemia, Abnormal metaphysis morphology |
ORPHA:296 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Splenomegaly |
OMIM:615387 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... |
OMIM:615513 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Somatic sensory dysfunction, Megaloblastic anemia, Paresthesia, Increa... |
OMIM:261000 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections |
OMIM:609536 |
Osteopetrosis, Autosomal Dominant 1 |
|
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... |
OMIM:607634 |
Shigellosis |
|
Bloody diarrhea, Abnormal blood ion concentration, Hyponatremia, Dehydration, Thrombocytopenia, P... |
ORPHA:810 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Chronic oral candidiasis, Diarrhea, Recurrent herpes, Hepatitis, De... |
ORPHA:169160 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... |
OMIM:193670 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Cranio-Osteoarthropathy |
|
Arthritis, Clubbing of toes, Abnormal cortical bone morphology, Abnormality of tibia morphology, ... |
ORPHA:1525 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Peritonitis, Abnormality of the ovary, Basal cell carcinoma, ... |
ORPHA:314473 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Abnormality of l... |
ORPHA:2204 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Diarrhea, Neu... |
OMIM:607594 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Elevated circulating C-react... |
OMIM:619644 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... |
OMIM:601457 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecularization,... |
ORPHA:93160 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Recurrent ... |
OMIM:607271 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Abnormal natural killer cell ... |
OMIM:613101 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Familial Mediterranean Fever |
|
Crohn's disease, Vomiting, Diarrhea, Arthritis, Pleuritis, Neutrophilia, Chronic constipation, Er... |
OMIM:249100 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... |
ORPHA:330001 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Disseminated molluscum contagiosum, Bronchiectasis, Decreased circulating total IgM, Asthma, Seve... |
OMIM:617638 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:616050 |
Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... |
ORPHA:2070 |
Familial Isolated Restrictive Cardiomyopathy |
|
Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left... |
ORPHA:75249 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Dermatoosteolysis, Kirghizian Type |
|
Osteolysis, Abnormal diaphysis morphology, Brachydactyly, Abnormal metaphysis morphology, Tarsal ... |
ORPHA:1657 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... |
ORPHA:444463 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... |
ORPHA:911 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Limited elbow extension, Metaphyseal dysplasia, Metaphyseal wideni... |
OMIM:265900 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Limitation of joint mobility, Osteolysis, Localized osteoporosis, ... |
ORPHA:66627 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost... |
OMIM:602080 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent Haemophilus influenzae infections, Diarrhea, Hepatomegaly, Decreased proportion of CD4-... |
ORPHA:276 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Peripheral edema, Hepatomegaly, A... |
ORPHA:57777 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:616636 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... |
ORPHA:75508 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Microsporidiosis |
|
Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-posi... |
ORPHA:2552 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... |
OMIM:300291 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
Listeriosis |
|
Septic arthritis, Brain abscess, Diarrhea, Unusual CNS infection, Pericarditis, Meningitis, Pneum... |
ORPHA:533 |
Ataxia-Pancytopenia Syndrome |
|
Impaired vibration sensation in the lower limbs, Acute myelomonocytic leukemia, Anemia, Pancytope... |
OMIM:159550 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... |
OMIM:619707 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Diarrhea, Fasciitis, Pericarditis, Myositis, Intestinal obstruction, Orchitis, Splenomegaly, Skin... |
ORPHA:32960 |
Omenn Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:39041 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Arthritis, Acrocyanosis, Increased circulating IgA level... |
ORPHA:343 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Respiratory tract infection, Minima... |
ORPHA:567548 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Osteopenia, Craniosynostosis, Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Caffey Disease |
|
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... |
ORPHA:1310 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Eosinophilic Fasciitis |
|
Paresthesia, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Nocardiosis |
|
Brain abscess, Pneumothorax, Scleritis, Productive cough, Unusual CNS infection, Pericarditis, Pl... |
ORPHA:31204 |
Immunodeficiency 52 |
|
Persistent EBV viremia, Increased proportion of gamma-delta T cells, Bronchiectasis, Decreased ci... |
OMIM:617514 |
Zygomycosis |
|
Brain abscess, Pneumothorax, Diarrhea, Fasciitis, Pericarditis, Pleural effusion, Osteolysis, Gas... |
ORPHA:73263 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Peritonitis, Abnormality of the ovary, Pleural effusion, Hi... |
ORPHA:314478 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Recurre... |
ORPHA:2968 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Coccidioidomycosis |
|
Unusual CNS infection, Exudative pleural effusion, Pericarditis, Osteolysis, Panniculitis, Eosino... |
ORPHA:228123 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Osteomyelitis, Arthritis, Osteolysis, Craniofacial osteosclerosis, Hyperostosis, Abnormal... |
ORPHA:324964 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... |
OMIM:267450 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lym... |
ORPHA:331206 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells |
OMIM:243700 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Tremor, Eosinophilia |
ORPHA:99965 |
Budd-Chiari Syndrome |
|
Cirrhosis, Peritonitis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Intestinal obstru... |
ORPHA:131 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:178320 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Craniosynostosis, Eosinophilia |
OMIM:618523 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Osteolysis Syndrome, Recessive |
|
Knee flexion contracture, Elbow flexion contracture, Metacarpal osteolysis, Distal radial epiphys... |
OMIM:259610 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphoma, Burkitt lymphoma, Reduced natural killer cell activity, Decreased circulating antibody ... |
OMIM:308240 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Minimal change glomerulonephritis, Edema, Periorbital edema, Periton... |
ORPHA:656 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Malignant Peritoneal Mesothelioma |
|
Pedal edema, Peritonitis, Dyspnea, Neoplasm, Ascites, Ileus |
ORPHA:168811 |
Cryptococcosis |
|
Cirrhosis, Vomiting, Osteomyelitis, Nodular pattern on pulmonary HRCT, Prostatitis, Lymphoid leuk... |
ORPHA:1546 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Osteogenesis Imperfecta, Type Xxii |
|
Thin bony cortex, Recurrent fractures, Pseudoarthrosis, Slender long bone, Multiple prenatal frac... |
OMIM:619795 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Increa... |
OMIM:618534 |
Immunoglobulin A Deficiency 1 |
|
Malabsorption, Decreased circulating IgA level, Recurrent infections, Recurrent respiratory infec... |
OMIM:137100 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Diarrhea, Acute tubulointerstitial nephritis, Elevated hepatic transaminase, Shock, ... |
ORPHA:340 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Eosinophi... |
OMIM:304790 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia, Ataxia, Intention tremor |
OMIM:266130 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Osteolys... |
ORPHA:137834 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... |
OMIM:166600 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Familial Mediterranean Fever |
|
Pedal edema, Splenomegaly, Diarrhea, Skin rash, Arthritis, Pleuritis, Erysipelas, Pericarditis, M... |
ORPHA:342 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... |
ORPHA:2635 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count |
OMIM:618394 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Pleuritis, Peritonitis, Erysipelas |
OMIM:134610 |
Mogs-Cdg |
|
Polyhydramnios, Alopecia, Hypoventilation, Decreased circulating total IgM, Pulmonary edema, Decr... |
ORPHA:79330 |
Idiopathic Achalasia |
|
Bronchitis, Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, ... |
ORPHA:930 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... |
OMIM:614069 |
Pneumocystosis |
|
Respiratory insufficiency, Increased circulating lactate dehydrogenase concentration, Exertional ... |
ORPHA:723 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Lymphadenopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio |
OMIM:617006 |
Infantile Myofibromatosis |
|
Osteolysis, Abnormal metaphysis morphology, Limitation of joint mobility, Bone cyst |
ORPHA:2591 |
Microscopic Polyangiitis |
|
Diarrhea, Episcleritis, Skin rash, Arthritis, Congestive heart failure, Uveitis, Pericarditis, Ep... |
ORPHA:727 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Lymphadenopathy, Increased circulating ferritin concentration, Hemo... |
OMIM:603552 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Femoral bowing, Broad thumb |
OMIM:619638 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Pedal edema, Hemothorax, Exertional dyspnea, Pulmon... |
ORPHA:199241 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Systolic heart murmur, Hypocapnia, Cya... |
ORPHA:980 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... |
OMIM:618944 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Pulm... |
OMIM:115197 |
Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Pneumothorax, Pleural effusion, Shock, Pneumonia, Nonproductive cough, Sepsis, Sever... |
ORPHA:36238 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Persistent EBV viremia, Absent isohemagglutinin level, Reduced natural killer cell activity, Recu... |
OMIM:615559 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly, Eosinophilia |
OMIM:616651 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly |
OMIM:619126 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Vomiting, Diarrhea, Unconjugated hyperbilirubinemia, Microangiopathic hemolytic ... |
ORPHA:90038 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, D... |
ORPHA:183675 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Agammaglobulinemia, Seborrheic dermatitis |
OMIM:619693 |
Avian Influenza |
|
Pneumothorax, Diarrhea, Productive cough, Elevated hepatic transaminase, Elevated circulating cre... |
ORPHA:454836 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:2902 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Thymic Aplasia |
|
Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningitis, Pneumonia, Sepsi... |
ORPHA:83471 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... |
OMIM:607676 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent fungal infections, Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Recurre... |
ORPHA:572 |
Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Nonimmune hydrop... |
OMIM:617300 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:859 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Aggressive Systemic Mastocytosis |
|
Anemia, Neutropenia, Leukemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Osteolysis, Incre... |
ORPHA:98850 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Desmoid Tumor |
|
Osteolysis, Limitation of joint mobility |
ORPHA:873 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Recurrent Haemophilus influenzae infections, Bronchiectasis, Product... |
ORPHA:60033 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... |
OMIM:619632 |
Liver Disease, Severe Congenital |
|
Systolic heart murmur, Diarrhea, Elevated hepatic transaminase, Eczema, Portal inflammation, Elev... |
OMIM:619991 |
Primary Peritoneal Carcinoma |
|
Peritonitis, Neoplasm, Constipation |
ORPHA:168829 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Neutropenia, Ataxia, Thrombocytopenia, Athetosis, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Immunodeficiency 92 |
|
Osteomyelitis, Chronic diarrhea, B lymphocytopenia, Recurrent oral herpes, Lymphocytosis, Scleros... |
OMIM:619652 |
Acute Peripheral Arterial Occlusion |
|
Impaired distal tactile sensation, Paresthesia, Leukocytosis |
ORPHA:90064 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone ... |
ORPHA:2097 |
Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk... |
ORPHA:3392 |
Scedosporiosis |
|
Septic arthritis, Unusual CNS infection, Pericarditis, Bronchial breath sound, Pneumonia, Sepsis,... |
ORPHA:449280 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Gait disturbance, Pancytopenia, Ab... |
ORPHA:2585 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Immunodeficiency 27A |
|
Anemia, Diarrhea, Hepatosplenomegaly, Abnormal bronchus physiology, Histiocytosis, Increased infl... |
OMIM:209950 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Lateral femoral bowing, Fibular bowing, Calvarial hyperostosis, Squared i... |
OMIM:112350 |
Aspergillosis |
|
Bronchiectasis, Unusual CNS infection, Pleural effusion, Meningitis, Eosinophilia, Hematological ... |
ORPHA:1163 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Autoimmune hemolytic anemi... |
ORPHA:100026 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... |
OMIM:166260 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome,... |
OMIM:307200 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Arthritis, Osteolysis involving bones of the upper limbs, ... |
ORPHA:371428 |
Complement Factor I Deficiency |
|
Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections... |
OMIM:610984 |
Ethylene Glycol Poisoning |
|
Hypotension, Episodic respiratory distress, Cyanosis, Vomiting, Cerebral edema, Pulmonary edema, ... |
ORPHA:31826 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Cholestasis, Prolonged neo... |
OMIM:231100 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased susceptibility to fractures, Abnormal long bone morphology, Osteolysis, Calvarial hyper... |
ORPHA:52430 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Neonatal Alloimmune Neutropenia |
|
Severe infection, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Meningitis, Pne... |
ORPHA:464370 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Hypovolemia, Pulmonary edema, Enlarged polycystic ovaries, Pleural effu... |
ORPHA:64739 |
Immunodeficiency 55 |
|
Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Periostitis, Osteopenia, Splen... |
OMIM:612852 |
Isolated Agammaglobulinemia |
|
Anemia, Sepsis, Recurrent respiratory infections, Diarrhea, Skin rash, Inflammatory abnormality o... |
ORPHA:229717 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:600081 |
Classic Hodgkin Lymphoma |
|
Osteolysis, Splenomegaly |
ORPHA:391 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia, Pachygyria, Polymicrogyria |
OMIM:609528 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Coxa vara, Osteomalacia, Abnormality of the humerus, Abnormal morphology of the... |
ORPHA:249 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Ataxia, Hyponatremia |
OMIM:616949 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Diarrhea, Elevated hepatic transaminase, Hepat... |
ORPHA:79124 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Colitis, Chronic diarrhea, Thrombocytopenia, Pneumonia, Sple... |
OMIM:614700 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sin... |
OMIM:616576 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Hemolytic anemia, Lymphopenia, Ataxia, Eosinophilia, Neutropenia, Ab... |
OMIM:615816 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentra... |
OMIM:617388 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cyanosis, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Short... |
OMIM:261740 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Craniometaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Widow's peak, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motili... |
OMIM:266265 |
Hemochromatosis, Type 3 |
|
Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio... |
OMIM:604250 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... |
OMIM:601495 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat... |
OMIM:308230 |
Maffucci Syndrome |
|
Osteolysis, Recurrent fractures |
ORPHA:163634 |
Hellp Syndrome |
|
Hypotension, Vomiting, Hemolytic anemia, Cerebral hemorrhage, Pulmonary edema, Microangiopathic h... |
ORPHA:244242 |
Cocaine Intoxication |
|
Hypotension, Bloody diarrhea, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventric... |
ORPHA:90068 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Neoplasm, Constipation |
ORPHA:168816 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia, Atopic dermatitis, Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiect... |
OMIM:618282 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Cirrhosis, Bronchiectasis, H... |
OMIM:613490 |