Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
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 CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
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 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
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 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Waddling gait, Multicentric femoral head ossification, Antalgic gait, Leukocytosis, Delayed femor... |
ORPHA:168621 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... |
OMIM:613953 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
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 IgG level, Decreased circulating IgA level |
OMIM:146830 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
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 otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... |
OMIM:605258 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Recurrent bacterial infections, Increased c... |
OMIM:608106 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Impaired pain sensation |
ORPHA:2582 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
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 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,... |
ORPHA:70578 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... |
OMIM:613500 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
Juvenile Hyaline Fibromatosis |
|
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... |
ORPHA:79106 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
Severe Combined Immunodeficiency, X-Linked |
|
Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumonia, Agamma... |
OMIM:300400 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... |
ORPHA:319552 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Nasal... |
ORPHA:70587 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... |
ORPHA:668 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Heart block, Tachypnea, Increased circulating ... |
ORPHA:542323 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... |
OMIM:613502 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:607115 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia |
OMIM:610181 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... |
OMIM:114000 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:601859 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chro... |
OMIM:608971 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity |
OMIM:608898 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia |
ORPHA:100024 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... |
ORPHA:2686 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Difficulty walking, Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... |
OMIM:608184 |
Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... |
OMIM:612692 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia |
ORPHA:158014 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
ORPHA:50809 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Congestive heart fail... |
ORPHA:139507 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... |
OMIM:300636 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent viral infections, Severe varicella zoster infection, Decreased proportion of CD4-positi... |
OMIM:300853 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Ollier Disease |
|
Micromelia, Joint stiffness, Osteolysis, Abnormal metaphysis morphology, Anemia |
ORPHA:296 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, P... |
ORPHA:330012 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:603909 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ... |
ORPHA:2774 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... |
OMIM:615513 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia |
OMIM:615387 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... |
ORPHA:232 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Neonatal sepsis, Apnea, Edema, Leukocytosis, Diarrhea, Peritonitis, Bloody d... |
ORPHA:391673 |
Intrinsic Factor Deficiency |
|
Somatic sensory dysfunction, Increased RBC distribution width, Megaloblastic anemia, Increased me... |
OMIM:261000 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Diarrhea, Pedal edema, Cardiorespiratory arr... |
ORPHA:188 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease |
OMIM:609536 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Shigellosis |
|
Sepsis, Abnormal blood ion concentration, Dehydration, Uveitis, Paralytic ileus, Hypovolemic shoc... |
ORPHA:810 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... |
OMIM:240500 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Basal cell car... |
ORPHA:314473 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hepatosplen... |
OMIM:619644 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis,... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, N... |
OMIM:607594 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, T lymphocytopenia, Pa... |
OMIM:601457 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b... |
ORPHA:93160 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Abnormal natural killer cell ... |
OMIM:613101 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Osteolysis |
ORPHA:494 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... |
ORPHA:330001 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Ort... |
ORPHA:75249 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Chronic diarrhea, Bronchiectasi... |
OMIM:617638 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Abnormal metaphysis... |
ORPHA:1657 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... |
OMIM:602080 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... |
OMIM:619374 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e... |
OMIM:265900 |
Microlissencephaly |
|
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... |
ORPHA:1083 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali... |
ORPHA:2552 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Tenosynovial Giant Cell Tumor |
|
Joint stiffness, Limitation of joint mobility, Osteolysis, Abnormal shoulder morphology, Abnormal... |
ORPHA:66627 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Global systolic dysfunction, Hepatomegaly, Abnorma... |
ORPHA:57777 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Acute myelo... |
OMIM:159550 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... |
ORPHA:533 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ... |
ORPHA:397596 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Craniosynostosis, Cutaneous abscess |
OMIM:147060 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Edema, Pulmonary embolism, Periorbital edema, Respiratory tract infection, ... |
ORPHA:567548 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Periorbital edema, Uv... |
ORPHA:32960 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... |
OMIM:614868 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Paresthesia, Eosinophilia |
ORPHA:3165 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Pleural effusion, Ascites, Ab... |
ORPHA:314478 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp... |
ORPHA:324964 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... |
ORPHA:31204 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial infections |
OMIM:245480 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... |
ORPHA:331206 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Vomiting, Neutropen... |
ORPHA:73263 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Eosinophilia |
ORPHA:99965 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Craniosynostosis |
OMIM:618523 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... |
OMIM:308240 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Peritonitis, Ileus, Pedal edema, Neoplasm, Ascites |
ORPHA:168811 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Edema, Minimal change glomerulonephritis, Respiratory tract infection, Periorbital edema, Periton... |
ORPHA:656 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Acute Lung Injury |
|
Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatiti... |
ORPHA:178320 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Halberd-s... |
ORPHA:2635 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane... |
OMIM:304790 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... |
OMIM:137100 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morphology, Clinodactyl... |
ORPHA:137834 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:618534 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... |
ORPHA:340 |
Glutathione Synthetase Deficiency |
|
Intention tremor, Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Intestinal obstruction, Skin rash, Myocardial infarction, Or... |
ORPHA:342 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Pleuritis, Erysipelas |
OMIM:134610 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... |
ORPHA:723 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti... |
ORPHA:98813 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Infantile Myofibromatosis |
|
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Roifman Syndrome |
|
Eosinophilia, Delayed proximal femoral epiphyseal ossification, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio |
OMIM:617006 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Wheezing, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recu... |
ORPHA:930 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:603552 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial ef... |
ORPHA:199241 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... |
OMIM:614069 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Generalized edema, Pulmonary edema, Apnea, Hypoventilation, E... |
ORPHA:79330 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... |
OMIM:618944 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea... |
OMIM:115197 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Recurrent respiratory infections,... |
ORPHA:980 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... |
OMIM:613496 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly |
OMIM:619126 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Persistent EB... |
OMIM:620282 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... |
OMIM:615559 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... |
ORPHA:83471 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Non-Hodgkin lymphoma, Recurrent staphylococcal infections, Severe va... |
ORPHA:331235 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... |
ORPHA:36238 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Acute colitis, Myocardial infarction, Leukocytosis, Schistocytosis... |
ORPHA:90038 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Leu... |
OMIM:619991 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... |
ORPHA:371428 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... |
ORPHA:572 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Primary Peritoneal Carcinoma |
|
Peritonitis, Neoplasm, Constipation |
ORPHA:168829 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4... |
ORPHA:443811 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... |
ORPHA:60033 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Pneumonia, Cholangiti... |
OMIM:619652 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Paresthesia, Impaired distal tactile sensation |
ORPHA:90064 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper... |
ORPHA:52430 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Tularemia |
|
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombo... |
ORPHA:3392 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Widow's peak, Recurrent otitis media, Periodontitis, Reduction of neutro... |
OMIM:266265 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chro... |
ORPHA:1163 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... |
ORPHA:449280 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Osteolysis |
ORPHA:391 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Gastritis, Abnormal pat... |
ORPHA:31826 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... |
OMIM:612852 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Seps... |
ORPHA:464370 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... |
ORPHA:64739 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Immunodeficiency 23 |
|
Hemolytic anemia, Somatic sensory dysfunction, Ataxia, Eosinophilia, Abscess, Neutropenia, Lympho... |
OMIM:615816 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro... |
OMIM:617388 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Pachygyria, Polymicrogyria, Aspiration pneumonia |
OMIM:609528 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... |
OMIM:308230 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur... |
ORPHA:79124 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... |
OMIM:612444 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ... |
OMIM:261740 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Neoplasm, Constipation |
ORPHA:168816 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma |
ORPHA:141152 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eosinophili... |
OMIM:618282 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... |
ORPHA:2796 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Patent ductus arteriosus, Peritonitis, Recurr... |
OMIM:619351 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Immunodeficiency 12 |
|
Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Recurrent bacterial infections,... |
OMIM:615468 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... |
ORPHA:1486 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells |
OMIM:616098 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233710 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... |
OMIM:613490 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... |
ORPHA:66529 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Felty Syndrome |
|
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Neutropenia... |
ORPHA:47612 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... |
OMIM:612840 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Resp... |
ORPHA:679 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... |
ORPHA:1572 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intr... |
OMIM:610910 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, B-cell lymphoma, A... |
OMIM:102700 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233690 |
Urachal Cyst |
|
Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe infection, P... |
ORPHA:488 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex |
OMIM:176920 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... |
ORPHA:97244 |
C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... |
OMIM:620321 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia |
OMIM:610738 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor... |
ORPHA:848 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... |
ORPHA:77259 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Irregular respiration, Neutrophilia, Meningitis, Diarrhea, In... |
ORPHA:79139 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Hepatomegaly, Psoriasiform dermatit... |
OMIM:616100 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia... |
ORPHA:3261 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia |
OMIM:617425 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... |
OMIM:617952 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Bone cyst, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... |
ORPHA:2484 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Tachypnea, Vomiting, P... |
ORPHA:466677 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal fingertip morphology, Osteolysis, Osteolytic defects of the distal phalanges of the hand... |
ORPHA:90154 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Iro... |
ORPHA:37042 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia |
OMIM:614038 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Melioidosis |
|
Shock, Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Foot osteom... |
ORPHA:31202 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom... |
OMIM:105210 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p... |
ORPHA:90153 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased mean corpuscular volume, Stomatocytosi... |
OMIM:185000 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis |
ORPHA:220393 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... |
ORPHA:39812 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, St... |
ORPHA:206594 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... |
ORPHA:69736 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c... |
ORPHA:540 |
Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Neoplasm, Gastroesophag... |
ORPHA:125 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory distress, Tachycardia, Respiratory failur... |
ORPHA:264675 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Lymphadenitis, Sepsis, Abnormal neutrophil morphology, Papilloma... |
ORPHA:51636 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Bone cyst, Abnormal spleen morphology, Anemia, Cutaneous abs... |
ORPHA:284 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Chorea, Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:289916 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Patent ductus arteriosus, Malabsorption, Recurrent infections |
ORPHA:99811 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Increased skull ossification, Pneumonia |
ORPHA:85179 |
Ogden Syndrome |
|
Apnea, Lymphedema, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency ane... |
OMIM:300855 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... |
OMIM:618048 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Hyperkalemia, Hy... |
ORPHA:199299 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Splenomegaly, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu... |
ORPHA:464329 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Lymphoma, Bronchiectasis, Recurrent infections |
ORPHA:477814 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... |
ORPHA:3226 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... |
ORPHA:2169 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Eosinophilia, Craniosynostosis |
ORPHA:2314 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen |
ORPHA:543 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bon... |
OMIM:301078 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Osteopenia, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronchiectasis, Recur... |
OMIM:619446 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Somatic sensory dysfunction, Generalized lymphadenopathy, Neutrophilia, Eosinophil... |
ORPHA:3260 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Craniosynostosis, Th... |
OMIM:259700 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Elevated circulating C-reactive protein concentration, Crackle... |
ORPHA:79126 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Lymphopenia, Leukopenia, Reduced bone mineral density |
OMIM:620210 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... |
OMIM:618131 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, H... |
OMIM:615673 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... |
ORPHA:1972 |
Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... |
ORPHA:781 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenital thrombocyto... |
OMIM:618886 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Bronchitis, Patent ductus arteriosus, Ventricular tachycardia, ... |
OMIM:601005 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Gastroesop... |
OMIM:201475 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... |
OMIM:619381 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Somatic sensory dysfunction, Eosinophilia, Elevated circulating C-reactive protein... |
ORPHA:449427 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le... |
ORPHA:507 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Recurrent viral infections, Se... |
OMIM:606367 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Osteolysis |
ORPHA:678 |
Angiostrongyliasis |
|
Hypereosinophilia, Paresthesia, Hyperesthesia |
ORPHA:74 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pul... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... |
OMIM:611884 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Gait disturbance, Lymphopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... |
OMIM:612649 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:615481 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Arthritis |
ORPHA:809 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Lymphedema, Biliary tract neoplasm, ... |
ORPHA:662 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... |
OMIM:618935 |
Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophi... |
ORPHA:508533 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Meier-Gorlin Syndrome 7 |
|
Craniosynostosis, Sagittal craniosynostosis, Heart block, Wide anterior fontanel, Cryptorchidism,... |
OMIM:617063 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... |
ORPHA:158048 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis |
OMIM:231530 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Cinca Syndrome |
|
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:1451 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal fi... |
ORPHA:3035 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Polyhydramnios, Osteoporosis, Gastroesophageal reflux, Intermittent diarrhea, Recurrent aspiratio... |
OMIM:619971 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Small intestine carcinoid, Intestinal carcinoid, Hepatic necrosis |
ORPHA:100093 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... |
OMIM:619375 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Adult-Onset Still Disease |
|
Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:829 |
H Syndrome |
|
Hallux valgus, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Camptodact... |
ORPHA:168569 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613807 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell m... |
ORPHA:760 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Edema, Secretory diarrhea, Bloody diarrhea, Vo... |
ORPHA:544482 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f... |
OMIM:603553 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gait disturbance, Eosinophilia |
ORPHA:183 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad... |
ORPHA:824 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... |
ORPHA:97287 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Immunodeficiency 77 |
|
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic p... |
OMIM:619223 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Bronchitis, Recurrent viral infections, Otitis media, Decreased circ... |
ORPHA:420741 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend... |
ORPHA:3384 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic in... |
ORPHA:2357 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis |
OMIM:617475 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Sneddon Syndrome |
|
Tremor, Lymphopenia, Impaired distal tactile sensation |
OMIM:182410 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... |
ORPHA:309282 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Myelodysplasia, Thrombocytopenia, Patent ductus... |
OMIM:617053 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:306400 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... |
ORPHA:70588 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Pericardial effusion... |
ORPHA:411703 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:120100 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy |
ORPHA:79456 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr... |
ORPHA:1304 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
Muckle-Wells Syndrome |
|
Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:191900 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... |
ORPHA:26793 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Hyperammonemia, Dysphagia, Respiratory insufficiency, Simplified gyral pat... |
OMIM:618253 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... |
ORPHA:247691 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Leukocytosis, Impaired tactile sensation, Hyperesthesia, Allodynia |
ORPHA:51890 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Heart murmur, Atrichia, Na... |
ORPHA:1867 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati... |
OMIM:156550 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... |
OMIM:617092 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... |
OMIM:608940 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... |
ORPHA:2590 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infectio... |
ORPHA:309288 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... |
OMIM:263700 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Recurrent herpes, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectiou... |
ORPHA:391487 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Splenomegaly,... |
OMIM:214500 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
Cowden Syndrome 7 |
|
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... |
OMIM:616858 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
Incontinentia Pigmenti |
|
Finger syndactyly, Eosinophilia, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, A... |
ORPHA:464 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Splenomegaly, Short toe... |
ORPHA:955 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:610377 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... |
OMIM:613848 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Mic... |
ORPHA:3206 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... |
OMIM:616037 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hepatomegaly, Tricuspid regurgitation, Atelec... |
OMIM:620233 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... |
ORPHA:1427 |
Familial Dysautonomia |
|
Recurrent fractures, Osteolysis |
ORPHA:1764 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Bloody diarrhea, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Ch... |
OMIM:615846 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Raynaud phenomenon, Respirat... |
ORPHA:79128 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Hyperten... |
ORPHA:567544 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnese... |
ORPHA:90362 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing |
ORPHA:2768 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concentration, Splen... |
ORPHA:50918 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost... |
ORPHA:2780 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis,... |
OMIM:220111 |
Ataxia-Telangiectasia |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Acute ly... |
OMIM:208900 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased liver function, Dyspha... |
ORPHA:26791 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections |
OMIM:618648 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Narrow iliac wing, Anemia |
ORPHA:3042 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult... |
OMIM:166210 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal... |
OMIM:608612 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Recurrent viral ... |
ORPHA:293978 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Flexion contracture, Elbow flexi... |
OMIM:248370 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... |
OMIM:619468 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis |
OMIM:618541 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co... |
OMIM:230600 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi... |
ORPHA:355 |
Chilblain Lupus |
|
Increased circulating antibody level |
ORPHA:90280 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Lymphadenopathy |
ORPHA:449432 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase |
ORPHA:71212 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Sepsis, Dehydration, Vomi... |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Hypercalcemia, Thrombocytopenia, Increased T cell count, Bone cys... |
ORPHA:797 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice |
OMIM:231680 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular ... |
OMIM:618278 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia |
ORPHA:95159 |
Spondyloenchondrodysplasia |
|
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response ... |
ORPHA:1855 |
Reni Syndrome |
|
Lymphopenia, Hypoalbuminemia, Ataxia, Hypertriglyceridemia |
OMIM:617575 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten... |
OMIM:603903 |
Autoimmune Hepatitis |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Recurrent bacterial infect... |
ORPHA:36412 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im... |
OMIM:618063 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, T l... |
OMIM:607944 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... |
OMIM:260400 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, As... |
ORPHA:79264 |
Majeed Syndrome |
|
Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypoch... |
ORPHA:77297 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:449563 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... |
ORPHA:2769 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... |
ORPHA:1652 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Orofaciodigital Syndrome Viii |
|
Hamartoma, Recurrent aspiration pneumonia |
OMIM:300484 |
Mosaic Variegated Aneuploidy Syndrome |
|
Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis |
ORPHA:1052 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology |
OMIM:614886 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Immunodeficiency 31C |
|
Osteopenia, Recurrent respiratory infections, Lymphopenia, Impaired lymphocyte transformation wit... |
OMIM:614162 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Cryptorchidism, Abnormal resp... |
ORPHA:98905 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Leukocytosis, Ly... |
OMIM:615895 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Edema, Abnormal blood ion concentration, Sepsis, Dehydration, Gastrointesti... |
ORPHA:79404 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612301 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Restrictive ventilat... |
ORPHA:98897 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
Legionnaires Disease |
|
Hyponatremia, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia |
ORPHA:549 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop... |
OMIM:242900 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Neonatal respiratory distress, Recurrent infections, Gastroesophageal r... |
ORPHA:79243 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Hypoplastic iliac wing, Avascular necrosis of the capital fe... |
ORPHA:93315 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Increased circulating IgG level, Leukopenia, Hypoalbuminemia, Abnormal salivary g... |
ORPHA:2298 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... |
OMIM:615688 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia |
OMIM:615758 |
Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration |
OMIM:253700 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Cranial hyperostosis, Imbal... |
ORPHA:330015 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin... |
ORPHA:454831 |
Sarcoidosis, Susceptibility To, 1 |
|
Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland morpholog... |
OMIM:181000 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sin... |
OMIM:251260 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Neonatal sepsis, Endometrial carcinoma, Adrenal hyperplasia, Pneumonia, Jaundice, H... |
ORPHA:90790 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Congestive heart failure, Patent ductus arteriosus, Splenomegal... |
ORPHA:354 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Abnormal ... |
OMIM:616541 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Polyhydramnios, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
OMIM:603467 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... |
ORPHA:140 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Hypokalemia, ... |
ORPHA:330021 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia |
ORPHA:935 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar... |
ORPHA:1018 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... |
OMIM:231070 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... |
ORPHA:167 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Decreased activity of NADPH oxidase, Aspiration pne... |
ORPHA:431361 |
Bloom Syndrome |
|
Hepatic steatosis, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract inf... |
OMIM:210900 |
Cystic Fibrosis |
|
Osteopenia, Sinusitis, Reduced forced expiratory volume in one second, Abnormality of the liver, ... |
ORPHA:586 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chronic diarrhea, Bronchi... |
OMIM:301220 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Stuve-Wiedemann Syndrome 1 |
|
Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Os... |
OMIM:601559 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Abnormal pulmonary i... |
ORPHA:217563 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Lissencephaly Due To Lis1 Mutation |
|
Agyria, Polyhydramnios, Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachy... |
ORPHA:95232 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Osteoporosis, ... |
OMIM:249420 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Faciocardiomelic Syndrome |
|
Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... |
OMIM:277600 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Cholera |
|
Hyponatremia, Tachycardia, Diarrhea, Tachypnea, Abnormal blood ion concentration, Dehydration, Hy... |
ORPHA:173 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa... |
ORPHA:2330 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Chops Syndrome |
|
Curly hair, Thick eyebrow, Gastroparesis, Thick hair, Splenomegaly, Patent ductus arteriosus, Syn... |
OMIM:616368 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... |
ORPHA:1830 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vita... |
OMIM:219700 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Carney Complex |
|
Pituitary growth hormone cell adenoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm o... |
ORPHA:1359 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis... |
ORPHA:90062 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Nausea, Respiratory tract infe... |
ORPHA:68 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... |
ORPHA:70 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Leuk... |
ORPHA:97685 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Neutropenia, Abnormal bone o... |
ORPHA:175 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Vomiting, Hypotension, Mastocyt... |
ORPHA:2135 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level |
ORPHA:48104 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl... |
OMIM:253200 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... |
OMIM:605822 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... |
OMIM:309583 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Sagittal craniosynostosis, Postaxial polydactyly, Asplenia, Short... |
ORPHA:221120 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop... |
ORPHA:221016 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Decreased circulating antibody level, Decreased circu... |
OMIM:300972 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Aspiration p... |
OMIM:619167 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Cough, Splenomegaly, Anemia, Stridor, Gastroesophageal reflux, Dysphagia, Br... |
OMIM:230900 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l... |
ORPHA:314655 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Lymphopenia |
OMIM:605309 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Metaphyseal s... |
ORPHA:221008 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... |
OMIM:242840 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Dysmetria, Dystonia, Lymphopenia, Intention tremor |
OMIM:619708 |
Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis |
ORPHA:96253 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia |
ORPHA:75565 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... |
OMIM:608328 |
Plague |
|
Respiratory distress, Chapped lip, Edema, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectiou... |
ORPHA:707 |
Desmosterolosis |
|
Increased bone mineral density, Micromelia, Metatarsus adductus, Splenomegaly, Osteopetrosis |
ORPHA:35107 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... |
ORPHA:667 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal ... |
ORPHA:666 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Chronic constipation, Re... |
OMIM:300472 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Hypoa... |
ORPHA:171 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Abnormal circulating serin... |
ORPHA:470 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dysphagia, Hyperostosis, Gastroesophageal reflux, He... |
ORPHA:73230 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis |
ORPHA:764 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplastic anemia, Aplasia... |
ORPHA:2909 |
Hypermobile Ehlers-Danlos Syndrome |
|
Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflexibility |
ORPHA:285 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... |
ORPHA:297 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620005 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Impaired tandem gait, Anemia |
ORPHA:99843 |
Infantile Neuroaxonal Dystrophy |
|
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Constipati... |
ORPHA:35069 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Oral-pharyngeal dysphagia, Xerostomia, Sepsis, Gastrointestinal inflammatio... |
ORPHA:95455 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Hyperu... |
OMIM:232220 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Prematur... |
OMIM:619488 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, ... |
ORPHA:319213 |
Atelosteogenesis, Type I |
|
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... |
OMIM:108720 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... |
OMIM:600901 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... |
OMIM:143095 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Atrioventricular block, Reduced bone mineral density, Coarse hair, Aspiration pneumoni... |
ORPHA:581 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Decreased beta-galactosidase activity, Aspir... |
ORPHA:79255 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... |
OMIM:227650 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respi... |
ORPHA:1465 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circulating C-react... |
OMIM:619573 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ... |
OMIM:309350 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Marshall-Smith Syndrome |
|
Brittle hair, Large sternal ossification centers, Apnea, Bilateral cryptorchidism, Synophrys, Asp... |
OMIM:602535 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
Orofaciodigital Syndrome Ix |
|
Hamartoma, Recurrent aspiration pneumonia |
OMIM:258865 |
Zika Virus Disease |
|
Increased circulating IgM level |
ORPHA:448237 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia |
OMIM:616430 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... |
OMIM:227645 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the thymus, Leukocytosis, Osteoporosis, Abnormal lymph node morphology, Decreased eos... |
ORPHA:99889 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... |
OMIM:304120 |
Prolidase Deficiency |
|
Increased circulating antibody level |
OMIM:170100 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia |
ORPHA:53351 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Chronic constipation, Restrictive ventilator... |
OMIM:619482 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recur... |
ORPHA:79259 |
Caroli Syndrome |
|
Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir... |
ORPHA:480520 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level |
ORPHA:79078 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anem... |
OMIM:227646 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Alopecia, Bronchiectasis, Bronchio... |
ORPHA:99921 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac... |
ORPHA:397715 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Hennekam Syndrome |
|
Craniosynostosis, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lympha... |
ORPHA:2136 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... |
OMIM:301072 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... |
ORPHA:353281 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... |
OMIM:259770 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... |
ORPHA:2020 |
Reynolds Syndrome |
|
Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia |
OMIM:613471 |
Tay-Sachs Disease |
|
Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Hepat... |
ORPHA:845 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... |
ORPHA:79474 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Low post... |
OMIM:122470 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... |
ORPHA:646 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Cheilitis, H... |
ORPHA:536 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bone mor... |
ORPHA:93 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Isotretinoin-Like Syndrome |
|
Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Cryptorchidism, Gray matter heterotopia, Lissencephaly, Pachygyria, Recurrent asp... |
OMIM:247200 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio... |
ORPHA:79329 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Coxa valga, Joint stiffness, Limited wrist movement, Osteoarthr... |
ORPHA:740 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Somatic sensory dysfunction, Chorea, Lymphadenopathy, Leukopenia, Normochromic... |
ORPHA:289390 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Thrombocyto... |
ORPHA:2785 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Recurrent urinary tract infections, Constipation, Aspiration pneumonia, ... |
ORPHA:99027 |
Viss Syndrome |
|
Hypereosinophilia |
OMIM:619472 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Talipes equinovarus |
ORPHA:286 |
Eisenmenger Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... |
ORPHA:97214 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Thick eyebrow, Decreased response to growth hormone stimulation test, Highly arched e... |
ORPHA:444077 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Increased nuchal ... |
ORPHA:280633 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:99827 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Thin bony cortex, Pancytopenia, Rickets, Reduced bone mineral density, ... |
OMIM:613658 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Fontaine Progeroid Syndrome |
|
Synophrys, Low anterior hairline, Coarse hair, Gastroesophageal reflux, Recurrent aspiration pneu... |
OMIM:612289 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... |
ORPHA:353277 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona... |
OMIM:616268 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:91500 |
Mucopolysaccharidosis-Plus Syndrome |
|
Increased circulating IgM level, Bone marrow hypocellularity |
OMIM:617303 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Orthostatic hypotension due to autonomic dysfunction, Osteomyelitis, Abscess, Recurren... |
ORPHA:642 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Cryptorchidism... |
ORPHA:438213 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Widow's peak, Strid... |
ORPHA:2745 |
Poems Syndrome |
|
Increased circulating antibody level |
ORPHA:2905 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Increased circulating IgA level |
ORPHA:186 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity |
ORPHA:505248 |
Al Amyloidosis |
|
Increased circulating antibody level |
ORPHA:85443 |
Alobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart r... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart r... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart r... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart r... |
ORPHA:220386 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Hypertriglyceridemia, Absent eyebrow, Pneumo... |
OMIM:264090 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:223370 |
Pmm2-Cdg |
|
Osteopenia, Respiratory distress, Lymphedema, Intracranial hemorrhage, Hypoalbuminemia, Hepatic f... |
ORPHA:79318 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level |
OMIM:271510 |
Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Polyhydramnios, Sagittal craniosynostosis, Low anterio... |
ORPHA:79500 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Sparse eyebrow, Cryptorchid... |
OMIM:147920 |
Lafora Disease |
|
Hepatic failure, Recurrent aspiration pneumonia |
ORPHA:501 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent sternal ossification, Absent nipple, Sparse eyelashes, Polyhydramnios, ... |
OMIM:216340 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level |
ORPHA:373 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function |
ORPHA:567 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |