Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Kerion Celsi |
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Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Alopecia, Recurrent ... |
ORPHA:499 |
Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency 14B, Autosomal Recessive |
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Decreased circulating total IgM, Leukocytosis, Inflammation of the large intestine, Polyarticular... |
OMIM:619281 |
Diamond-Blackfan Anemia 19 |
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Steroid-responsive anemia, Erythroid hypoplasia, Anemia |
OMIM:618312 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... |
OMIM:202700 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Jaundice, Hemophagocytosis, Anemia, Skin rash, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, C... |
OMIM:603552 |
Hashimoto Thyroiditis |
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Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Complement Component C1R/C1S Deficiency |
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Nephritis, Discoid lupus rash, Autoimmunity, Arthritis |
OMIM:216950 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... |
OMIM:615615 |
Glycoprotein Storage Disease |
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Gout, Splenomegaly |
OMIM:232900 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Systemic Lupus Erythematosus 16 |
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Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... |
OMIM:614420 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Hepatosplenomegaly, Cystic acne, Knee flexion contracture, Sterile arthritis, Colitis, Arthritis,... |
OMIM:604416 |
Immunodeficiency 42 |
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Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly, Chronic oral candidiasis, ... |
OMIM:616622 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Failure to thriv... |
OMIM:615285 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Thrombocythemia 3 |
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Ischemic stroke, Thrombocytosis |
OMIM:614521 |
X-Linked Agammaglobulinemia |
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Chronic otitis media, Recurrent cutaneous abscess formation, Anemia, Skin rash, Alopecia, Short s... |
ORPHA:47 |
Immunodeficiency 15B |
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Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Monocytosis, Dec... |
OMIM:615592 |
Masp2 Deficiency |
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Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
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Conjunctivitis, Lymphadenopathy, Arthritis |
OMIM:617772 |
Acquired Idiopathic Sideroblastic Anemia |
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Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
Polycythemia Vera |
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Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Gastrointestinal ... |
OMIM:263300 |
Tularemia |
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Leukocytosis, Cervical lymphadenopathy, Tachycardia, Anemia, Skin rash, Abnormal nasopharyngeal a... |
ORPHA:3392 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Recurrent s... |
OMIM:612840 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Colitis, Ac... |
OMIM:300635 |
Complement Component 8 Deficiency, Type I |
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Systemic lupus erythematosus |
OMIM:613790 |
Complement Component C1S Deficiency |
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Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Leukopenia, Bone marrow hypocellularity, Refractory anemia, Monocytosis, Eczema, Acute myeloid le... |
OMIM:616871 |
Immunodeficiency 69 |
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Hepatosplenomegaly, Leukocytosis, Anemia, Skin rash, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Neutropenia, Alopecia, Arthritis, Eosino... |
OMIM:304790 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... |
OMIM:601457 |
Omenn Syndrome |
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Leukocytosis, Anemia, Abnormal lymphocyte morphology, Alopecia, Hepatomegaly, Eosinophilia, Eryth... |
ORPHA:39041 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Increased circulating antibody level, Leukemia, Autoimmune thrombocytopenia, Pa... |
OMIM:614470 |
Muckle-Wells Syndrome |
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Delayed puberty, Camptodactyly of finger, Vasculitis, Anemia, Recurrent aphthous stomatitis, Skin... |
ORPHA:575 |
Immunodeficiency 104 |
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Failure to thrive secondary to recurrent infections, Hepatomegaly, T lymphocytopenia, Recurrent o... |
OMIM:608971 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Lipodystrophy, Anemia, Skin rash, Myositis, Hepatomegaly, Lymphopenia, Elevated hepatic transamin... |
OMIM:617591 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
C1Q Deficiency 1 |
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Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity |
OMIM:613652 |
Immunodeficiency 24 |
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Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Omenn Syndrome |
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Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Alopecia, Erythroderma,... |
OMIM:603554 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, ... |
OMIM:300400 |
Adult Idiopathic Neutropenia |
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Recurrent aphthous stomatitis, Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnor... |
ORPHA:2688 |
Immunodeficiency 27A |
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Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... |
OMIM:209950 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Wilson Disease |
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Acute hepatic failure, Acute hepatitis, Jaundice, Joint swelling, Pathologic fracture, Anemia, He... |
ORPHA:905 |
Adult-Onset Still Disease |
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Myocarditis, Generalized lymphadenopathy, Leukocytosis, Joint swelling, Skin rash, Bone marrow hy... |
ORPHA:829 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Recurrent otitis media, Recurrent pneumonia, Follicular hyperplasia, Bronchiectasis... |
OMIM:240500 |
Dysplasia Of Head Of Femur, Meyer Type |
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Congenital hip dislocation, Leukocytosis, Multicentric femoral head ossification, Delayed femoral... |
ORPHA:168621 |
Fetal Cytomegalovirus Syndrome |
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Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Hepatomegaly, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration, Al... |
OMIM:615559 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Macrocyti... |
ORPHA:86841 |
Isolated Agammaglobulinemia |
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Recurrent cutaneous abscess formation, Anemia, Skin rash, Abnormality of neutrophils, Abnormal ly... |
ORPHA:229717 |
Osteoarthritis Susceptibility 3 |
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Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... |
OMIM:607850 |
Classic Mycosis Fungoides |
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Skin rash, Abnormality of the nail, Hepatomegaly, Alopecia, Abnormal lymphocyte morphology, Pruri... |
ORPHA:2584 |
Immunodeficiency 46 |
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Intermittent thrombocytopenia, Anemia, Chronic oral candidiasis, Failure to thrive, Conjunctiviti... |
OMIM:616740 |
Immunodeficiency 51 |
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Chronic mucocutaneous candidiasis, Abnormal lymphocyte morphology, Chronic oral candidiasis, Recu... |
OMIM:613953 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Schnitzler Syndrome |
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Increased bone mineral density, Vasculitis, Leukocytosis, Anemia, Skin rash, Hepatomegaly, Arthri... |
ORPHA:37748 |
Autosomal Agammaglobulinemia |
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Chronic otitis media, Epicanthus, Skin rash, Arthritis, Failure to thrive, Hepatitis, Sinusitis, ... |
ORPHA:33110 |
Familial Cold Autoinflammatory Syndrome 2 |
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Leukocytosis, Skin rash, Recurrent aphthous stomatitis, Arthritis, Lymphadenopathy, Splenomegaly,... |
OMIM:611762 |
Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Recurrent otitis media, Re... |
OMIM:617585 |
Sézary Syndrome |
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Ectropion, Hepatomegaly, Alopecia, Abnormal lymphocyte morphology, Erythroderma, Pruritus, Lympha... |
ORPHA:3162 |
Muckle-Wells Syndrome |
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Maculopapular exanthema, Leukocytosis, Polyarticular arthritis, Recurrent aphthous stomatitis, Re... |
OMIM:191900 |
Juvenile Temporal Arteritis |
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Vasculitis, Leukocytosis, Eosinophilia, Allergic rhinitis, Cerebral ischemia, Conjunctivitis |
ORPHA:26137 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Rickets, Jaundice, Extramedullary hematopoiesis, Renal cyst, Cholestasis, Hepatomegaly, Prolonged... |
ORPHA:79303 |
Beta-Thalassemia Intermedia |
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Leukocytosis, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Proximal tubulopathy, Increase... |
ORPHA:231222 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Myocarditis, Acute hepatic failure, Cardiac arrest, Tubulointerstitial nephritis, Skin rash, Rena... |
ORPHA:139402 |
Griscelli Syndrome |
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Jaundice, Iris hypopigmentation, Leukopenia, Abnormal eyelash morphology, Abnormal eyebrow morpho... |
ORPHA:381 |
Periodic Fever, Familial, Autosomal Dominant |
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Oligoarthritis, Maculopapular exanthema, Polyarticular arthritis, Skin rash, Erysipelas, Cervical... |
OMIM:142680 |
Immunodeficiency 92 |
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Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence... |
OMIM:619652 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Skin rash |
OMIM:619175 |
Vexas Syndrome |
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Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Macrocytic anemia, Thrombocyto... |
OMIM:301054 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Small for gestational age, Failure to thrive in infancy, Decreased prop... |
OMIM:617241 |
Poikiloderma With Neutropenia |
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Leukopenia, Joint stiffness, Skin rash, Low posterior hairline, Blepharitis, Short stature, Incre... |
OMIM:604173 |
Congenital Atransferrinemia |
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Hypothyroidism, Abnormality of the pancreas, Arthritis, Anemia |
ORPHA:1195 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Colitis, B lymphocytopenia, Hypothyroidism, Erythema nodosum, Recurrent pneumonia, Thrombocytopen... |
OMIM:614700 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hepatosplenomegaly, Alopecia universalis, Decreased CD4:CD8 ratio, Hemolytic anemia, Patchy alope... |
OMIM:606367 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
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Alopecia of scalp, Perifolliculitis, Alopecia |
OMIM:260910 |
Sickle Cell Anemia |
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Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... |
ORPHA:232 |
Brachydactylous Dwarfism, Mseleni Type |
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Osteoarthritis of the elbow, Knee osteoarthritis, Joint subluxation, Autoimmunity, Stiff shoulder... |
ORPHA:2619 |
Farber Lipogranulomatosis |
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Ulnar deviation of the wrist, Osteolysis involving bones of the feet, Joint swelling, Hyperextens... |
OMIM:228000 |
Thrombocythemia 1 |
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Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... |
OMIM:187950 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Immunodeficiency 50 |
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Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Chondrocalcinosis 2 |
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Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis |
OMIM:118600 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Failure to thrive secondary to ... |
ORPHA:169160 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Leukocytosis, Cholestasis, Cardiomyopathy, Hepatomegaly, Nail dystrophy, Lymphadenitis, Splenomeg... |
OMIM:615895 |
Clouston Syndrome |
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Cataract, Nail dysplasia, Absent axillary hair, Onycholysis, Fine hair, Brittle hair, Blepharitis... |
OMIM:129500 |
Dominant Beta-Thalassemia |
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Delayed puberty, Hypopituitarism, Chronic hepatitis, Diabetes mellitus, Hypoparathyroidism, Upsla... |
ORPHA:231226 |
Hereditary Spherocytosis |
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Jaundice, Reticulocytosis, Maculopapular exanthema, Extramedullary hematopoiesis, Increased mean ... |
ORPHA:822 |
Primary Myelofibrosis |
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Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Increased c... |
ORPHA:824 |
Candidiasis, Familial, 1 |
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Abnormality of the endocrine system, Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Limitation of joint mobility, Lymphopenia, Arthritis, Eosinophilia |
ORPHA:2582 |
Familial Cold Autoinflammatory Syndrome 1 |
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Leukocytosis, Skin rash, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Cinca Syndrome |
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Hepatosplenomegaly, Leukocytosis, Anemia, Skin rash, Uveitis, Arthritis, Eosinophilia, Patellar o... |
OMIM:607115 |
Graft Versus Host Disease |
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Inflammatory abnormality of the skin, Maculopapular exanthema, Hemophagocytosis, Chronic hepatiti... |
ORPHA:39812 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Increased mean corpuscular volume, Pancytopenia, Type I diabetes mellitus, T-cell acute lymphobla... |
OMIM:620044 |
Pfapa Syndrome |
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Hepatomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:42642 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Felty Syndrome |
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Chronic otitis media, Abnormal joint morphology, Hepatomegaly, Episcleritis, Synovitis, Osteolysi... |
ORPHA:47612 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Histiocytosis, Skin rash |
ORPHA:157997 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Recurrent aphthous stomatitis, Leukemia, Acute lymphoblastic leukemia, Neutropen... |
ORPHA:486 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... |
OMIM:602450 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Immunodeficiency 8 With Lymphoproliferation |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Majeed Syndrome |
|
Hepatosplenomegaly, Delayed puberty, Inflammatory abnormality of the skin, Joint swelling, Skin r... |
OMIM:609628 |
Macrophage Activation Syndrome |
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Hemophagocytosis, Anemia, Elevated circulating aspartate aminotransferase concentration, Elevated... |
ORPHA:158061 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Alopecia, Lymphadenopathy, Growth delay, Splenomegaly, Ascites |
ORPHA:100025 |
Mixed Connective Tissue Disease |
|
Myocarditis, Pulmonary arterial hypertension, Osteolysis, Leukopenia, Hemolytic anemia, Skin rash... |
ORPHA:809 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia |
ORPHA:169095 |
Oliver-Mcfarlane Syndrome |
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Delayed puberty, Small for gestational age, Long eyelashes, Cryptorchidism, Severe short stature,... |
OMIM:275400 |
Hypocomplementemic Urticarial Vasculitis |
|
Proteinuria, Small vessel vasculitis, Skin rash, Uveitis, Renal insufficiency, Hepatomegaly, Join... |
ORPHA:36412 |
Heinz Body Anemias |
|
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Knee osteoarthritis, Oligoarthritis, Joint swelling, Enthesitis, Anemia, Join... |
ORPHA:85408 |
Dermatitis, Atopic |
|
Cataract, Atopic dermatitis, Pruritus, Recurrent skin infections, Keratoconus, Allergic rhinitis,... |
OMIM:603165 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Zika Virus Disease |
|
Maculopapular exanthema, Iris coloboma, Skin rash, Intrauterine growth retardation, Arthritis, Pr... |
ORPHA:448237 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Raynaud phenomenon, Increased circulating IgA level, Malar rash, Leukopenia, Joint stiffness, Ski... |
OMIM:615934 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Keratitis, Nail dysplasia, Blepharitis, Enamel hypoplasia, Alopecia, Sparse eyebrow, Sc... |
OMIM:612843 |
Beta-Thalassemia Major |
|
Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Upslanted ... |
ORPHA:231214 |
Congenital Ichthyosiform Erythroderma |
|
Corneal erosion, Ectropion, Abnormality of the nail, Short stature, Alopecia, Failure to thrive, ... |
ORPHA:79394 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Failure to thrive, Pneumonia, Absence of CD8-p... |
OMIM:269840 |
Melioidosis |
|
Lung abscess, Liver abscess, Abnormal parotid gland morphology, Osteoarthritis, Parotitis, Hepati... |
ORPHA:31202 |
Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
Majeed Syndrome |
|
Abnormal inflammatory response, Increased bone mineral density, Proteinuria, Microscopic hematuri... |
ORPHA:77297 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Short stature, Cirrhosis, Conjunctivitis, Fragile nails,... |
OMIM:242150 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair |
ORPHA:55654 |
Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:52416 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... |
OMIM:259710 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Malar rash, Optic neuritis, Leukopenia, Mitral regurgitation, Autoimmune thro... |
OMIM:301080 |
Biotinidase Deficiency |
|
Skin rash, Hepatomegaly, Alopecia, Seborrheic dermatitis, Recurrent skin infections, Decreased ci... |
OMIM:253260 |
Beta-Thalassemia |
|
Reduced bone mineral density, Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepat... |
ORPHA:848 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatosplenomegaly, Lipodystrophy, Cholestatic liver disease, Proteinuria, Hemophagocytosis, Arth... |
OMIM:619858 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Conjunctivitis, Recurrent otitis media, Re... |
OMIM:613493 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Monocytosis, Recurrent pneumonia, ... |
OMIM:619644 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Oligoarthritis, Failure to thrive in infancy, Lymphopenia... |
OMIM:619510 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Keratoconjunctivitis, Cataract, Thymoma, Asplenia, Chronic hepatitis, Chronic mucocutaneous candi... |
OMIM:269200 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Enlarged joints, Synovitis |
ORPHA:50809 |
Brucellosis |
|
Myocarditis, Leukocytosis, Granuloma, Increased circulating IgM level, Transient ischemic attack,... |
ORPHA:1304 |
Hypotrichosis 4 |
|
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair |
OMIM:146550 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, B lymphocytopenia, Conjunctivitis... |
OMIM:612692 |
Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Alopecia, Growth delay, Thrombocytopenia, Perioral eczema, Eczema, Organic ... |
ORPHA:79242 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Hematochezia, Elevated circulating aspartate aminotransferase concen... |
OMIM:613812 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Nephrocalcinosis, Asplenia, Chronic active hepatitis, Hypoparathyroidism, C... |
OMIM:240300 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair |
OMIM:203655 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Failure to... |
OMIM:617514 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Splenomegaly, Neutropenia |
OMIM:602079 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Pruritus, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Stroke, Leukocytosis, Erythema nodosum, Hepatosplenomegaly, Vasculitis, Renal artery aneurysm, Le... |
OMIM:615688 |
Juvenile Idiopathic Arthritis |
|
Abnormal joint morphology, Nail pits, Joint swelling, Joint stiffness, Skin rash, Uveitis, Abnorm... |
ORPHA:92 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity |
OMIM:131430 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Cryoglobulinemic Vasculitis |
|
Vasculitis, Proteinuria, Abnormality of the liver, Viral hepatitis, Renal insufficiency, Keratoco... |
ORPHA:91138 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Cachexia, Gastritis, Nail d... |
ORPHA:37042 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Granuloma, Colitis, Foam cells, Hepatosplenomegaly, Lymphopenia, Thrombocytopen... |
OMIM:619802 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... |
ORPHA:494424 |
Peeling Skin Syndrome 1 |
|
Onycholysis, Brittle hair, Short stature, Eosinophilia, Pruritus, Nail dystrophy, Erythroderma |
OMIM:270300 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Conjunctival icterus, Increased mean corpu... |
OMIM:194380 |
Osteochondrosis Of The Tarsal Bone |
|
Chondritis, Osteochondritis dissecans, Abnormal tarsal ossification, Arthritis, Tarsal sclerosis,... |
ORPHA:563991 |
Porphyria, Congenital Erythropoietic |
|
Jaundice, Osteolysis, Pink urine, Hemolytic anemia, Pathologic fracture, Red urine, Corneal scarr... |
OMIM:263700 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Arthritis, Congestive heart failure, Hypogon... |
OMIM:602390 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails,... |
ORPHA:2722 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Peritonitis, Vasculitis, Leukocytosis, Orchitis, Skin rash, Erysipelas, Uveitis, Myositis, Abnorm... |
ORPHA:32960 |
Cogan Syndrome |
|
Vasculitis, Keratitis, Leukocytosis, Anemia, Large vessel vasculitis, Scleritis, Uveitis, Aortic ... |
ORPHA:1467 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Hepatomegaly, Lymphadenopathy, Anterior... |
ORPHA:85414 |
Legionnaires Disease |
|
Myocarditis, Jaundice, Proteinuria, Endocarditis, Hypotension, Pancreatitis, Bone marrow hypocell... |
ORPHA:549 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhos... |
OMIM:607765 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Cholestatic liver disease, Maculopapular exanthema, Abnormal renal physiology, Hemophag... |
ORPHA:540 |
Immunodeficiency 7 |
|
Hypereosinophilia, Patchy alopecia, Autoimmune hemolytic anemia, Hepatomegaly, Chronic oral candi... |
OMIM:615387 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Dystrophic fingernails, Blepharitis, Ectropion, Corneal dystrophy, Sparse eyebrow, Sca... |
OMIM:308800 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic an... |
ORPHA:227990 |
Hypotrichosis 11 |
|
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Heme Oxygenase 1 Deficiency |
|
Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Hypertension, Thrombocytosis, Nephritis,... |
OMIM:614034 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Lymphopenia, Reduced natural killer cell count, B lymp... |
OMIM:614172 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids |
OMIM:609655 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic an... |
ORPHA:227982 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Polyarticular arthritis, Uveitis, Autoimmune hemolytic anemia, Keratoconjuncti... |
OMIM:617388 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Pulmonary arterial hypertension, Small for gestational age, Extramedullary hematopoiesis, Anemia,... |
OMIM:617021 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Hypotension, Abnormality of the liver, Hepatomegaly, Pruritus, Gastr... |
ORPHA:79456 |
Trichohepatoenteric Syndrome 2 |
|
Small for gestational age, Chronic hepatitis, Trichorrhexis nodosa, Uncombable hair, Brittle hair... |
OMIM:614602 |
Copper Deficiency, Familial Benign |
|
Anemia, Curly hair, Early balding, Failure to thrive, Seborrheic dermatitis |
OMIM:121270 |
Ichthyosis With Confetti |
|
Hypoplastic nipples, Ectropion, Short stature, Pruritus, Hypertrichosis, Decreased body weight, E... |
OMIM:609165 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, Periodontitis, Sparse scalp ... |
ORPHA:1008 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Delayed puberty, Nail dysplasia, Erysipelas, Hepatomegaly, Alopecia, Sparse eyebrow, Gr... |
OMIM:615704 |
Papa Syndrome |
|
Proteinuria, Increased inflammatory response, Pustule, Arthritis, Acne, Lymphadenopathy, Crohn's ... |
ORPHA:69126 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Lymphadenopathy, Growth delay, Sple... |
OMIM:619164 |
Shigellosis |
|
Peritonitis, Myocarditis, Leukocytosis, Cholestasis, Urethritis, Splenic abscess, Microangiopathi... |
ORPHA:810 |
Alopecia Areata 1 |
|
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis |
OMIM:104000 |
Kid Syndrome |
|
Onychogryposis, Keratoconjunctivitis sicca, Punctate keratitis, Trichilemmoma, Sparse eyebrow, Na... |
ORPHA:477 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, 3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Sinusitis, Thromb... |
OMIM:226990 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
Kawasaki Disease |
|
Myocarditis, Jaundice, Vasculitis, Leukocytosis, Cervical lymphadenopathy, Proteinuria, Skin rash... |
ORPHA:2331 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Delayed puberty, Enteroviral hepatitis, Short stature, Decreased response to growth hormone stimu... |
OMIM:307200 |
Netherton Syndrome |
|
Hypereosinophilia, Brittle hair, Chronic rhinitis, Failure to thrive, Recurrent skin infections, ... |
OMIM:256500 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Osteoporosis, Hepatomega... |
ORPHA:79301 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... |
OMIM:247800 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Pulmonic stenosis, Chronic mucocutaneous candidiasis, Alopecia, Chronic oral c... |
OMIM:618282 |
Galactose Epimerase Deficiency |
|
Cataract, Jaundice, Hepatomegaly, Aminoaciduria, Growth delay, Splenomegaly, Weight loss |
ORPHA:79238 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Short stature, Arthritis |
ORPHA:1937 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Diffuse hepatic steatosi... |
ORPHA:2137 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Alopecia Universalis |
|
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes |
ORPHA:701 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Failure to thrive, ... |
OMIM:614480 |
Erythrokeratodermia Variabilis |
|
Cataract, Skin rash, Diabetes mellitus, Abnormal testis morphology, Abnormality of the nail, Alop... |
ORPHA:317 |
Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Lupus nephritis, Arthritis, Thrombocytopenia, Nephritis... |
OMIM:152700 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Ridged nail, Alopecia, Nail dystrophy, Decreased helper T cell proportion, T lymphocyt... |
OMIM:601705 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Chronic hepatitis, Hemolytic anemia, Ankle clonus, Hepatomegaly, Enteroviral encephal... |
OMIM:308230 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Eczematoid dermatitis, Elevated circulating growth hormone concentration,... |
ORPHA:2796 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Cataract, Camptodactyly, Jaundice, Cryptorchidism, Epicanthus, Brushfie... |
OMIM:214110 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 59 And Hypoglycemia |
|
Acne inversa, Decreased proportion of class-switched memory B cells, Complete or near-complete ab... |
OMIM:233600 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Interface hepatitis, Hematochezia, Impaired lymphocyte transformation w... |
OMIM:243150 |
Sea-Blue Histiocyte Disease |
|
Absent axillary hair, Elevated circulating aspartate aminotransferase concentration, Elevated cir... |
OMIM:269600 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... |
OMIM:619868 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Cholestasis... |
OMIM:620010 |
Hemochromatosis, Type 3 |
|
Anemia, Cardiomyopathy, Lymphopenia, Arthritis, Neutropenia |
OMIM:604250 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lipoatrophy, Absence of subcutaneous fat, Lymphadenitis, Al... |
ORPHA:90156 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Arthritis, Pruritus, Cellulitis, Limitation of ... |
ORPHA:231 |
Q Fever |
|
Myocarditis, Maculopapular exanthema, Granuloma, Hepatomegaly, Hepatosplenomegaly, Vasculitis, En... |
ORPHA:781 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Arthritis, A... |
OMIM:616100 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Micropenis, Alopecia, Bilateral cryptorchidism, Erythroderma, Hypospadias |
OMIM:618840 |
Bullous Impetigo |
|
Septic arthritis, Recurrent bacterial skin infections, Pustule, Abnormality of the lymphatic system |
ORPHA:36237 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Jaundice, Skin rash, Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infec... |
ORPHA:276 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... |
OMIM:105835 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... |
OMIM:261000 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Osteolysis, Bence Jones Proteinuria, Anemia, Osteoporosis, Hepatomegaly, N... |
ORPHA:100024 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Failure to thrive, Recurrent pneumonia, B... |
OMIM:242700 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hip dislocation, Patellar dislocation, Anterior rib punctate calcifications, Sparse eyebrow, Epip... |
ORPHA:35173 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Vasculitis, Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Reduced natural killer cell a... |
OMIM:308240 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Intermittent thrombocytopenia, Hepatomegaly, Perianal abscess, Hepatosplenomegal... |
OMIM:612541 |
Syndromic Diarrhea |
|
Polycystic kidney dysplasia, Inguinal hernia, Brittle hair, Hepatomegaly, Colitis, Gastritis, Hyp... |
ORPHA:84064 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Gout, Osteoporosis, Hypertension, Premature coronary artery atherosclerosis, Sudden cardiac death... |
OMIM:610947 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Sandhoff Disease |
|
Hepatomegaly, Failure to thrive, Cherry red spot of the macula, Congestive heart failure, Splenom... |
ORPHA:796 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta, Fai... |
OMIM:612782 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Reduced bone mineral density, Leukopenia, Joint stiffness, Hepatomegaly, Short stature, Lymphopen... |
OMIM:620210 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Absent tonsils, Lymphopenia, Failure to thrive, Pulmonary i... |
ORPHA:277 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Hepatomegaly, Short stature, Abnormality of the tonsils, Hernia, Limitation of jo... |
ORPHA:93476 |
Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Arth... |
ORPHA:566943 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Osteoporosis, Abnormal mast cell morphology, Hepatomegaly, Pr... |
ORPHA:98848 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Intrauterine growth retardation, Chilblains, Thrombocytopenia, Sp... |
OMIM:615010 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Thick hair, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Alope... |
OMIM:607626 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Vasculitis, Anemia, Hypertension, Arthritis, Ascending tubular a... |
ORPHA:3287 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Rheumatoid arthritis |
OMIM:270150 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Jaundice |
OMIM:206400 |
Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Chronic neutropenia, Curly hair, Short eyelashes, Concave ... |
OMIM:258360 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity, Pericarditis |
OMIM:609939 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Scarring, Abnormal hair m... |
ORPHA:346 |
Listeriosis |
|
Peritonitis, Stroke, Myocarditis, Hepatic granulomatosis, Splenic abscess, Stiff neck, Liver absc... |
ORPHA:533 |
Porphyria Cutanea Tarda |
|
Chronic hepatitis, Diabetes mellitus, Hirsutism, Cutaneous abscess, Elevated hepatic iron concent... |
ORPHA:101330 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Hashimoto thyroiditis, Abnormality of the ductus choledochus, Autoimmun... |
ORPHA:436252 |
Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Hemolytic anemia, Intracranial hemorrhage, Internal hemorrhage, Epistaxis, ... |
ORPHA:906 |
Cronkhite-Canada Syndrome |
|
Cataract, Sparse body hair, Patchy alopecia, Anemia, Dystrophic fingernails, Hepatomegaly, Alopec... |
ORPHA:2930 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Inflammatory abnormality of the skin, Chronic hepatitis, Intracranial hemorrhage, C... |
ORPHA:3260 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Rat-Bite Fever |
|
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Anemia, Sk... |
ORPHA:31205 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Acne, Hirsutism, Obesity |
OMIM:604931 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Cheilitis, Pustule, Corneal erosion, Blepharitis, Abnor... |
ORPHA:37 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Lymph node hypoplasia, T lymphocytopenia... |
OMIM:300755 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Decreased circulating I... |
OMIM:619773 |
Congenital Enterovirus Infection |
|
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hypotension, Anemia, Chole... |
ORPHA:292 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia |
OMIM:312500 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Nail dysplasia, Anemia, Corneal scarring, Alopecia, Enamel hypoplasia, Growth delay, Na... |
OMIM:226600 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Short stature, Failure to thrive, Lymphadenopathy, Pneumonia, Eczema, Sp... |
OMIM:607271 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis |
OMIM:114550 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Hepatomegaly, Short stature, Abnormal calcium-phosphate regulat... |
ORPHA:417 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney disease, Diabetes m... |
ORPHA:79147 |
Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Testicular atrophy, Arthropathy, Arrhythmia, Osteoporosis, Cardiomyopat... |
OMIM:235200 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Congenital onychodystrophy, Alopecia universalis, Brittle hair, Alopecia, Absen... |
ORPHA:2890 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Ectopia lentis, Anemia, Hypoplastic toenails, Alopecia, Abnormal fingernail mo... |
ORPHA:2325 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Inguinal hernia, Cholestatic liver disease, Anemia, Severe postnatal growth ... |
ORPHA:440713 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Chondritis, Osteochondrosis, Progressive joint destructi... |
ORPHA:564003 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Pruritus, Restrictive cardiomyopathy, Sp... |
OMIM:607685 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... |
OMIM:616329 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Pruritus, Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:86893 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Alopecia, Atrophic gastritis, Recurrent skin infections, Thrombocyto... |
OMIM:616576 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... |
ORPHA:859 |
Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Vasculitis... |
OMIM:601859 |
Lichen Planopilaris |
|
Onycholysis, Alopecia, Abnormal fingernail morphology, Hepatitis, Pruritus, Pterygium |
ORPHA:525 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Chronic hepatitis, Keratoconjunctivitis sicca, Decreased proportion of ... |
ORPHA:289390 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Abnormal T cell morphology, Decreased circula... |
OMIM:613502 |
Pseudoprogeria Syndrome |
|
Joint stiffness, Alopecia, Short stature, Absent eyelashes, Failure to thrive, Absent eyebrow, Sp... |
ORPHA:2985 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Netherton Syndrome |
|
Hydronephrosis, Trichorrhexis nodosa, Skin rash, Fine hair, Ectopic kidney, Short stature, Sparse... |
ORPHA:634 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Anti-La/SS-B an... |
ORPHA:90283 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Vasculitis, Anemia,... |
ORPHA:324964 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Trichoschisis, Small for gestational age, Tiger tail banding, Trichorrhexis nodosa, Hyp... |
OMIM:601675 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eczema, Downslanted palpebral fissures, Intrauterine growth retarda... |
OMIM:616651 |
Nicolaides-Baraitser Syndrome |
|
Long eyelashes, Curly eyelashes, Severe short stature, Cryptorchidism, Downslanted palpebral fiss... |
ORPHA:3051 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail |
OMIM:614928 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Nephrolit... |
OMIM:617321 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Galactosemia Iii |
|
Jaundice, Galactosuria, Hepatomegaly, Failure to thrive, Decreased beta-galactosidase activity, A... |
OMIM:230350 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Skin rash, Cholestasis, Hypertension, Hepatomegaly, Nephropathy, Nephrotic syndrome,... |
OMIM:105200 |
Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Increased circulating metamyelocyte count, Hypotension, Increased circu... |
ORPHA:36234 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Arthralgia/arthritis |
ORPHA:411593 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Reduced bone mineral density, Cholestasis, Hepatomegaly, Short stature, Failure to thri... |
ORPHA:172 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum... |
OMIM:615214 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Pulmonary embolism, Thrombocytosis, Iron deficiency anemia, Decreased circulating antibod... |
OMIM:226300 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Eczematoid dermatitis, Atypical or prolonged hepatitis, Coombs-positive hem... |
ORPHA:83471 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, Septic arthritis, Abnormal natural killer cell count, Recurrent skin infe... |
OMIM:612260 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Punctate opacification of the cornea, Hepatomegaly, Flexion contracture ... |
OMIM:256040 |
Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Diabetes mellitus, Hepatic bridging fibrosis, Osteoporosis... |
ORPHA:139507 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse body hair, Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Sparse eyebrow, Scarr... |
ORPHA:59303 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Acute myeloid leukemia, Syncope, Chronic myelogenous leukemia, T... |
ORPHA:71493 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Limited elbow extension, Camptodactyly, Hashimoto thyroiditis, Failure to thrive in infancy, Hepa... |
OMIM:613385 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Proteinuria, Malar rash, Microangiopathic hemolytic anemia, Leukopenia, Skin ... |
ORPHA:93552 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Delayed puberty, Inflammatory abnormality of the skin, B lymphocytopenia, Hepatosplenomegaly, Gen... |
ORPHA:391487 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Absent eyelashes, Punctate keratitis, Sparse eyebrow, Scarring alopecia of scalp, Sparse eyelashe... |
OMIM:602540 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent otit... |
OMIM:300853 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Jaundice, Stomatitis, Anemia, Seborrheic dermatitis, Thrombocytopenia, Neutro... |
OMIM:246400 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Arthritis, Eosinophilia, Fasciitis, Myositis, Abnormal eosinophil morphology |
ORPHA:3165 |
Parc Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes |
OMIM:600331 |
Trichothiodystrophy |
|
Epicanthus, Brittle hair, Keratoconjunctivitis sicca, Cardiomyopathy, Joint dislocation, Fragile ... |
ORPHA:33364 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, Anonychia, Hyperconvex nail, Patchy alopecia, Micropenis, Supernumerary nipple,... |
OMIM:106260 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Increased bone mineral density, Mydriasis, Leukocytosis, Extramedullary hemat... |
OMIM:259720 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Epicanthus, Hepatomegaly, Osteopenia, Nephrotic syndrome, Failure to thri... |
OMIM:269920 |
Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure |
ORPHA:60 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Camptodactyly, Acute he... |
ORPHA:228426 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Myasthenia Gravis |
|
Raynaud phenomenon, Hemolytic anemia, Hashimoto thyroiditis, Pure red cell aplasia, Glycosuria, H... |
ORPHA:589 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia |
OMIM:619398 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Inflammation of the large intestine, Skin rash, Colitis, ... |
OMIM:301074 |
Scrub Typhus |
|
Myocarditis, Hypotension, Skin rash, Renal insufficiency, Infectious encephalitis, Lymphadenopath... |
ORPHA:83317 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, S... |
OMIM:615631 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Hepatomegaly, Vasculitis, Leukopenia, Alopecia, Abnormal lymph node morphology, Thro... |
ORPHA:50918 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Maculopapular exanthema, Pathologic fracture, Abnormal mast cell morphology, Elevat... |
ORPHA:98850 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Bone marrow hypocellularity, Anemia of ... |
ORPHA:98826 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus |
OMIM:606176 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Onychogryposis, Blepharitis, Failure to thrive, Paronychia, Pustule, Erythroderma |
OMIM:614328 |
Lamellar Ichthyosis |
|
Chronic otitis media, Ectropion, Renal insufficiency, Abnormality of the nail, Short stature, Pru... |
ORPHA:313 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Maculopapular exanthema, Leukemia, Histiocytosis, Pruritus, Lymphadenopathy, E... |
ORPHA:157991 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Colitis, Gastritis, Decreased proportion of CD4-positive helper T cells, Vasculitis... |
ORPHA:3261 |
Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Enlarged kidney, Skin rash, Abnormality of connective tissue, Keratoconjuncti... |
ORPHA:79128 |
Cholestasis-Lymphedema Syndrome |
|
Jaundice, Erysipelas, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transami... |
OMIM:214900 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Congestive heart failure, Pericarditis, Splenomegaly |
ORPHA:163596 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Chronic kidney disease, Anemia, Renal cyst, Intrauterine growth retardation, Short stature,... |
OMIM:617056 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Anemia, Osteoarthritis, Short stature, Arthritis, Joint dislocation, ... |
ORPHA:53 |
American Trypanosomiasis |
|
Myocarditis, Skin rash, Arrhythmia, Cardiomyopathy, Hepatomegaly, Infectious encephalitis, Lympha... |
ORPHA:3386 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Cholestatic liver disease, Proteinuria, Nephrocalcinosis, Glycosuria, Nephrogenic diabe... |
OMIM:613404 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp |
OMIM:617294 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Ectropion, Alopecia, Nail dystrophy, Sparse hair, Flexion contracture, Erythroderma |
OMIM:242300 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Stiff interphalangeal joints, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Hypothyroidism, De... |
ORPHA:465508 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Molluscum contagiosum, Herpes simplex encephalitis, Recurrent otitis media, I... |
OMIM:618982 |
H Syndrome |
|
Delayed puberty, Enlarged kidney, Abnormal eyebrow morphology, Diabetes mellitus, Facial telangie... |
ORPHA:168569 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Polycystic kidney dysplasia, Epicanthus, Cholestasis, Diabetes mellitus, Hepatomegaly, Elevated c... |
OMIM:610199 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Recurrent aphthous stomatitis, Abscess, Chronic oral candidiasis, ... |
OMIM:150550 |
Avian Influenza |
|
Acute kidney injury, Leukopenia, Elevated hepatic transaminase, Lymphopenia, Increased circulatin... |
ORPHA:454836 |
Hemochromatosis, Type 4 |
|
Cataract, Anemia, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Hepatomegaly, Osteoarthritis, Ci... |
OMIM:606069 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Hepatomegaly, Acute pancreatitis, Bundle branch block, Neutrophilia, B... |
ORPHA:99827 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Enlarged kidney, Heavy proteinuria, Tricuspid regurgitation, Hypertrophic cardiomyopa... |
ORPHA:505248 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Skin rash, Renal ins... |
ORPHA:567544 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Synophrys, Downslanted palpebral fissures, Ectropion, Thick eyebrow, Conjunctivitis, Recurrent ot... |
OMIM:602562 |
Microsporidiosis |
|
Myocarditis, Peritonitis, Urethritis, Cachexia, Abnormality of the spleen, Decreased proportion o... |
ORPHA:2552 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... |
OMIM:618534 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Hypertrophic cardiomyopathy, Hypothyroidism, Vasculit... |
OMIM:615846 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Coronal craniosynostosis, Metopic depression, Extramedullary hematopoiesis, M... |
ORPHA:313855 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Jaundice, Cholestatic liver disease, Small for gestational age, Nephrocalcinosis, Reduced renal c... |
OMIM:208085 |
Thumb Deformity And Alopecia |
|
Short stature, Alopecia |
OMIM:188150 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Systemic lupus erythematosus, Limitation of joint mobility, Rheumatoid arthritis |
ORPHA:399180 |
Reticular Dysgenesis |
|
Chronic otitis media, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormalit... |
ORPHA:33355 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Pityriasis Rubra Pilaris |
|
Abnormality of the nail, Pruritus, Subungual hyperkeratosis, Eczema, Pustule, Erythroderma |
ORPHA:2897 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Failure to thrive, Absent circulating B cells, Seborrheic dermatitis, Thro... |
OMIM:619693 |
Hepatoerythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Red urine, Red-brown urine, Osteolysis, Recurrent bacter... |
ORPHA:95159 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Generalized morning stiffness, Arthropathy, Arthritis, Congenital finger flexion contractures, Wr... |
OMIM:208250 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Skin rash, Hepatomegaly, Anemia of inadequate production, Osteopenia, Failure to thrive... |
OMIM:612714 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Recurrent ... |
OMIM:613501 |
Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
Fibrodysplasia Ossificans Progressiva |
|
Anemia, Synostosis of joints, Alopecia, Failure to thrive, Ectopic ossification in ligament tissu... |
ORPHA:337 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... |
OMIM:619658 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
Relapsing Polychondritis |
|
Myocarditis, Cataract, Keratitis, Proteinuria, Chondritis, Recurrent aphthous stomatitis, Sclerit... |
ORPHA:728 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia, Nail dystrophy, Abnormally low T cell receptor excision circle leve... |
OMIM:618806 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Rickets of the lower limbs, Acute hepatic failure, Hepatomegaly, Spleno... |
ORPHA:882 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Hepatom... |
OMIM:618495 |
Roifman Syndrome |
|
Hepatosplenomegaly, Noncompaction cardiomyopathy, Hyperconvex nail, Eczema, Intrauterine growth r... |
ORPHA:353298 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased circulating cortisol lev... |
OMIM:615830 |
Alpha-Mannosidosis |
|
Cataract, Chronic otitis media, Inguinal hernia, Hepatomegaly, Synostosis of joints, Arthritis, T... |
ORPHA:61 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Hepatomegaly, Sh... |
OMIM:612526 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Abscess, G... |
OMIM:618935 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Spider hemangioma, C... |
ORPHA:171 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Cherry red spot of the macula, Hepatosplenomegal... |
ORPHA:333 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Vasculitis... |
OMIM:603909 |
Hodgkin Lymphoma |
|
Hepatomegaly, Pruritus, Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:98293 |
Prolidase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Anemia, Diffuse telangiectasia, Hy... |
OMIM:170100 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Acute otitis media, Skin rash, Autoimmune t... |
ORPHA:572 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Arrhythmia, Hypertension, Pulmonary embolism, Osteoarthritis, Congestive heart f... |
ORPHA:1345 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Hip dislocation, Severe short stature, Severe postnatal growth retardation, Alopecia, Flexion con... |
OMIM:203550 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Short stature, Nephrotic ... |
OMIM:618999 |
Familial Cold Urticaria |
|
Pruritus, Conjunctivitis, Arthritis |
ORPHA:47045 |
Gaucher Disease Type 1 |
|
Delayed puberty, Increased bone mineral density, Osteolysis, Pulmonary arterial hypertension, Leu... |
ORPHA:77259 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Porphyria Cutanea Tarda |
|
Hepatocellular carcinoma, Facial hypertrichosis, Reduced uroporphyrinogen decarboxylase activity,... |
OMIM:176100 |
Immunodeficiency 54 |
|
Intrauterine growth retardation, Short stature, Reduced natural killer cell count, Hepatomegaly, ... |
OMIM:609981 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis, Recurrent sinusitis |
OMIM:614379 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Delayed puberty, Abnormal hair morphology, Leukemia, Acute lymphoblasti... |
OMIM:208900 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Reduced bone mineral density, Polyarticular arthritis, Joint swelling, Rheumatoid factor positive... |
ORPHA:85435 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Psoriasis 14, Pustular |
|
Cholangitis, Oligoarthritis, Leukocytosis, Polyarticular arthritis, Psoriasiform dermatitis, Nail... |
OMIM:614204 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Stomatitis, Skin rash, Autoimmune thrombocytopenia, Recurrent bacterial skin ... |
ORPHA:911 |
Dyskeratosis Congenita, X-Linked |
|
Horseshoe kidney, Pterygium of nails, Nail dystrophy, Acute myeloid leukemia, Cryptorchidism, Leu... |
OMIM:305000 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto... |
OMIM:619375 |
Whipple Disease |
|
Myocarditis, Hypotension, Anemia, Uveitis, Hepatomegaly, Cachexia, Arthritis, Infectious encephal... |
ORPHA:3452 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Wolff-Par... |
OMIM:619705 |
Classic Hodgkin Lymphoma |
|
Osteolysis, Skin rash, Bone marrow hypocellularity, Hepatomegaly, Pruritus, Lymphadenopathy, Sple... |
ORPHA:391 |
Alstrom Syndrome |
|
Chronic active hepatitis, Truncal obesity, Hepatomegaly, Hyperinsulinemia, Hypothyroidism, Insuli... |
OMIM:203800 |
Crandall Syndrome |
|
Sparse body hair, Hypogonadism, Fine hair, Brittle hair, Alopecia, Hypoplasia of penis, Abnormal ... |
ORPHA:202 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Epicanthus, Brittle hair, Intrauterine growth retardation, Short stature, Alopecia, Hepatomegaly,... |
ORPHA:50812 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Renal angiomyolipoma, Skin rash, Molluscum contagiosum, Lymphad... |
OMIM:260920 |
Bullous Dystrophy, Hereditary Macular Type |
|
Abnormality of the nail, Severe short stature, Alopecia totalis |
OMIM:302000 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Cardiomyopathy, Hepatomegaly, Intrauterine growth retardation, Flexion contracture,... |
OMIM:608540 |
Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Maculopapular exanthema, Hemolytic anemia, ... |
ORPHA:398124 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis, Hypergonadotropic hypogonadism |
ORPHA:1014 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Generalized Eruptive Keratoacanthoma |
|
Ectropion, Keratoconjunctivitis sicca, Pruritus, Abnormal cornea morphology, Conjunctivitis |
ORPHA:411777 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 lev... |
OMIM:300310 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Epicanthus, Elevated circulating aspartate aminotransferase concentration, F... |
OMIM:611182 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Thrombocytopenia, Lymphadenopathy, Splenom... |
OMIM:613101 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Deep derma... |
OMIM:212050 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... |
OMIM:619707 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Thrombocytopenia, Psoriasiform dermatitis, Increased mean platelet volume, Eczema |
OMIM:617443 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Anemia, Hepatomegaly, Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Ptosis |
OMIM:610539 |
Mucoepithelial Dysplasia, Hereditary |
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Keratoconjunctivitis, Cataract, Nail dysplasia, Chronic monilial nail infection, Alopecia, Eosino... |
OMIM:158310 |
Leukocyte Adhesion Deficiency |
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Peritonitis, Leukocytosis, Polycythemia, Chronic oral candidiasis, Perianal abscess, Hyperinsulin... |
ORPHA:2968 |
Spondyloenchondrodysplasia |
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Raynaud phenomenon, Vasculitis, Proteinuria, Chronic kidney disease, Skin rash, Autoimmune thromb... |
ORPHA:1855 |
Leishmaniasis |
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Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... |
ORPHA:507 |
Osteopetrosis, Autosomal Recessive 3 |
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Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Short stature, Os... |
OMIM:259730 |
Gamma-Heavy Chain Disease |
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Osteolysis, Anemia, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal... |
ORPHA:100026 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Diffuse mesangial sclerosis, Reduced red cell adenosine dea... |
OMIM:102700 |
Moynahan Syndrome |
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Hypogonadism, Cachexia, Alopecia, Short stature, Sparse hair |
ORPHA:2574 |
Felty Syndrome |
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Rheumatoid arthritis |
OMIM:134750 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Reactive Arthritis |
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Inflammation of the large intestine, Joint swelling, Enthesitis, Pustule, Recurrent aphthous stom... |
ORPHA:29207 |
Monosomy 22 |
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Hepatosplenomegaly, Narrow palpebral fissure, Epicanthus, Joint swelling, Micropenis, Synophrys, ... |
ORPHA:96123 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Hepatomegaly, Short stature, Arthritis, Failure to thrive, Septic arthritis, Osteomyelitis, Hypoc... |
OMIM:619423 |
Agel Amyloidosis |
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Cataract, Proteinuria, Corneal ulceration, Stage 5 chronic kidney disease, Bilateral ptosis, Abno... |
ORPHA:85448 |
Hyperbilirubinemia, Shunt, Primary |
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Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Cockayne Syndrome Type 2 |
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Cryptorchidism, Uveitis, Hepatomegaly, Intrauterine growth retardation, Enamel hypoplasia, Scarri... |
ORPHA:90322 |
Autoimmune Hypoparathyroidism |
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Cataract, Increased bone mineral density, Abnormal left ventricular function, Calcium nephrolithi... |
ORPHA:36913 |
Cockayne Syndrome Type 1 |
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Cataract, Proteinuria, Cryptorchidism, Anemia, Uveitis, Hypertension, Hepatomegaly, Enamel hypopl... |
ORPHA:90321 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Stippled calcification in carpal bones, Cataract, Hydronephrosis, Patchy alopecia, Rhizomelia, Do... |
OMIM:302960 |
Congenital Disorder Of Glycosylation, Type It |
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Delayed puberty, Chronic hepatitis, Hepatomegaly, Increased hepatic glycogen content, Hydronephro... |
OMIM:614921 |
Takayasu Arteritis |
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