Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Eosinophilia, Familial |
|
Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Abnormal pleura morphology, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... |
OMIM:617638 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infe... |
OMIM:226990 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Hepatitis, Increased circulating antibody level, Decreased proportion o... |
ORPHA:169160 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Eosinophilia, Leukocytosis, Allergic rhinitis |
ORPHA:26137 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Maculopapular exanthema, Leukemia |
ORPHA:157991 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Recurrent respiratory in... |
OMIM:618523 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Recurrent lower respirato... |
ORPHA:169154 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Ec... |
OMIM:618282 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Eosinophilia |
OMIM:234350 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent sinopulmonary infectio... |
OMIM:147060 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Eczema, Lymphopenia, Recurrent respiratory inf... |
OMIM:300988 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... |
OMIM:601859 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... |
ORPHA:331206 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Benign Cephalic Histiocytosis |
|
Skin rash, Histiocytosis, Inflammatory abnormality of the skin |
ORPHA:157997 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut... |
ORPHA:486 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Malar rash, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta... |
OMIM:603909 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... |
OMIM:602450 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Immunodeficiency 7 |
|
Hypereosinophilia, Chronic oral candidiasis, Recurrent respiratory infections, Recurrent otitis m... |
OMIM:615387 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemi... |
OMIM:247800 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia |
ORPHA:3165 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Autoimmune thrombocytopen... |
OMIM:304790 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Pleural effusion, Hypersensitivity pneumonitis, Leukocytosis, Increased circul... |
ORPHA:2902 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... |
ORPHA:90045 |
Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Eosinophilia |
OMIM:613412 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Inflammatory abnormality of the skin, Skin ra... |
OMIM:102700 |
Cinca Syndrome |
|
Anemia, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Eosinophilia, Leukocytosis |
OMIM:607115 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Lymphocy... |
ORPHA:911 |
Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level, Eczema, Recurrent otitis media... |
ORPHA:353298 |
Aspergillosis |
|
Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Pleuritis, Pleural effusion, Sinusitis, Hy... |
ORPHA:1163 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Bronchiectasis, Recurrent lower respiratory tract infections, Decreased eosinoph... |
OMIM:619632 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... |
OMIM:618986 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Ulcerative coliti... |
ORPHA:555905 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Immunodeficiency 102 |
|
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Recurre... |
OMIM:301082 |
Immunodeficiency 23 |
|
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Recurrent respiratory infections, Increased ... |
OMIM:615816 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Eosinophilia |
OMIM:253600 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Autoimmu... |
OMIM:617388 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Abnormal eosinophil morphology |
ORPHA:724 |
Omenn Syndrome |
|
Anemia, Thyroiditis, Eosinophilia, Erythroderma, Leukocytosis, Pneumonia, Splenomegaly, Abnormal ... |
ORPHA:39041 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Glomerulonephritis, Gastritis, Bone marrow hyp... |
ORPHA:3261 |
Netherton Syndrome |
|
Hypereosinophilia, Allergic rhinitis, Erythroderma, Increased circulating IgE level, Decreased ci... |
OMIM:256500 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Eryt... |
OMIM:603554 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Atopic dermatitis, Membranous nephropathy |
OMIM:618999 |
Wiskott-Aldrich Syndrome |
|
Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, D... |
OMIM:301000 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... |
ORPHA:449400 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Erythema nodosum, Hepatitis, Folliculitis, Decreased circulating antibody level, Pancytopenia, In... |
OMIM:300635 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Lympho... |
ORPHA:139402 |
Cyclic Neutropenia |
|
Respiratory tract infection, Enterocolitis, Perianal abscess, Periodontitis, Decreased eosinophil... |
ORPHA:2686 |
Roifman Syndrome |
|
Eczema, Recurrent otitis media, Recurrent pneumonia, Eosinophilia, Splenomegaly |
OMIM:616651 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Micro... |
ORPHA:846 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Recurrent respiratory infections, Increased circu... |
ORPHA:2314 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr... |
OMIM:613101 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Eczema, Bone marrow hypocellularity, Refractory anemia, Monoc... |
OMIM:616871 |
Eosinophilic Gastroenteritis |
|
Anemia, Allergic rhinitis, Leukocytosis, Eosinophilia, Atopic dermatitis |
ORPHA:2070 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity |
ORPHA:318 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Cystic Echinococcosis |
|
Abnormal subpleural morphology, Peritoneal abscess, Increased circulating antibody level, Splenic... |
ORPHA:400 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... |
OMIM:615285 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Eczema, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis, Emphysema |
ORPHA:1164 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Decreased circulating antibody level, Skin rash, Abnormality of neutrophils, ... |
ORPHA:33355 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Tubulointerstitial nephritis, Abnormal pleura morphology, Skin rash, Arthritis, Nas... |
ORPHA:183 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Lymphopenia, Eosinophilia, Erythroderma |
OMIM:617425 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Increased circulating IgG4 level, Nephritis, Sinusitis, Parotitis, Eosinophilia, A... |
ORPHA:449427 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Arthritis, Pleuritis, Nephritis, Pericarditis, Lupus ne... |
OMIM:152700 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... |
ORPHA:232 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Coccidioidomycosis |
|
Osteomyelitis, Pleural empyema, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbillifor... |
ORPHA:228123 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increased mean corpusc... |
OMIM:300946 |
Loeffler Endocarditis |
|
Pericarditis, Eosinophilia |
ORPHA:75566 |
Beta-Thalassemia |
|
Anemia, Hypertrophic cardiomyopathy, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splen... |
ORPHA:848 |
Scleroderma |
|
Hypereosinophilia, Abnormal pulmonary interstitial morphology, Myelitis, Osteomyelitis, Arthritis... |
ORPHA:801 |
Alveolar Echinococcosis |
|
Anemia, Increased circulating antibody level, Liver abscess, Abnormal spleen morphology, Cutaneou... |
ORPHA:284 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu... |
OMIM:158310 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... |
OMIM:613011 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Idiopathic Hypereosinophilic Syndrome |
|
Splenomegaly, Anemia, Erythroderma, Inflammatory abnormality of the skin, Arthritis, Neutrophilia... |
ORPHA:3260 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation, Recurrent skin infections |
OMIM:614171 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating anti... |
ORPHA:508533 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Prostatitis, Thyroiditis, Cholangitis, Abnormal lung morphology... |
ORPHA:449563 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Prostatitis, Increased circulating antibody level, Increased ci... |
ORPHA:449432 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosinophilia... |
ORPHA:449395 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ... |
OMIM:608203 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... |
ORPHA:2442 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic anemia, I... |
OMIM:612561 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Colitis |
OMIM:615190 |
Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Epididymitis, Glomerulonephritis, Abnormal lung morphology, Orc... |
ORPHA:2035 |
Sarcoidosis |
|
Pneumothorax, Bronchiectasis, Keratoconjunctivitis sicca, Pleural effusion, Increased T cell coun... |
ORPHA:797 |
Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Normocytic anemia, Hashimoto thyroiditis, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Eczema, Thrombocytopenia, Arthritis, Neutropenia, Recurrent respiratory... |
ORPHA:906 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
Incontinentia Pigmenti |
|
Uveitis, Leukocytosis, Eosinophilia, Keratitis, Maculopapular exanthema |
OMIM:308300 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
Beta-Thalassemia Intermedia |
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Pulmonary arterial hypertension, Cholelithiasis, Increased HbA2 hemoglobin, Erythroid hyperplasia... |
ORPHA:231222 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Incontinentia Pigmenti |
|
Skin rash, Uveitis, Eosinophilia, Keratitis, Infectious encephalitis |
ORPHA:464 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia |
OMIM:231095 |
Thrombocytopenia-Absent Radius Syndrome |
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Anemia, Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia, Leukocytosis, Thr... |
OMIM:274000 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Relapsing Fever |
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Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Extramedullary hematopoiesis, Decreased mean corpuscular hem... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia, Cryptorchidism |
ORPHA:98791 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia |
OMIM:618885 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circula... |
ORPHA:411634 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Primary Sclerosing Cholangitis |
|
Splenomegaly, Hepatitis, Thyroiditis, Abnormal eosinophil morphology, Ulcerative colitis, Uveitis... |
ORPHA:171 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Elevated circulating creatinine concentra... |
ORPHA:85450 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Persistence of hemoglobin F |
OMIM:619769 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Viss Syndrome |
|
Hypereosinophilia, Pulmonary artery aneurysm, Pneumothorax, Increased circulating IgG level, Ecze... |
OMIM:619472 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:49041 |
Dermatomyositis |
|
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Arthritis, Abnormal... |
ORPHA:221 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Cushing Disease |
|
Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne |
ORPHA:96253 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Low anterior hairline, Reticulocytopenia, Pure red cell aplas... |
ORPHA:124 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Hypertension, Anemia |
ORPHA:330015 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia |
ORPHA:75565 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Cryptorchidism |
ORPHA:847 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circula... |
ORPHA:99826 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Cryptorchidism |
OMIM:301040 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia, Small cell lung c... |
ORPHA:99889 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |