Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Immunodeficiency 15A |
|
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... |
OMIM:618204 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... |
ORPHA:79147 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus |
ORPHA:330064 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... |
OMIM:617514 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Immunodeficiency 17 |
|
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... |
OMIM:615607 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia |
OMIM:615715 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis, Erythroderma |
OMIM:604777 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Eosinophilia, Pneumonia |
OMIM:617638 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... |
ORPHA:277 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613736 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Pityriasis Rubra Pilaris |
|
Pruritus, Eczema, Erythroderma, Pustule |
ORPHA:2897 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... |
OMIM:609628 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis, Anemia |
OMIM:121270 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy |
OMIM:618982 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Eosinophilia, Erythroderma, Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Ane... |
OMIM:304790 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia |
OMIM:618963 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Pneumonia, Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positiv... |
ORPHA:169160 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Thrombocytosis, Acne, Arthritis, Hepatosplenomegaly, Microcytic a... |
OMIM:604416 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Ichthyosis With Confetti |
|
Erythroderma |
OMIM:609165 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... |
OMIM:618282 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
Epidermolytic Hyperkeratosis |
|
Erythroderma |
OMIM:113800 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Primary Familial Polycythemia |
|
Polycythemia, Pruritus, Abnormal hemoglobin |
ORPHA:90042 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, Aplastic anemia... |
OMIM:300635 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Splenomegaly |
OMIM:619175 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Omenn Syndrome |
|
Leukocytosis, Erythroderma, Pneumonia, Pruritus, Abnormal lymphocyte morphology, Anemia, Splenome... |
ORPHA:39041 |
Letterer-Siwe Disease |
|
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia |
OMIM:246400 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Immunodeficiency 25 |
|
Erythroderma, Recurrent pneumonia, Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Oligoarthritis, Reduced natural killer cell count, Decreased proportion of ... |
OMIM:619510 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nephritis |
OMIM:609057 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, T lymphocytopenia, Chronic oral... |
OMIM:606367 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... |
ORPHA:90280 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Recurrent otitis media,... |
OMIM:618944 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Recurrent skin infections, Recurrent pneumonia, Thrombocytopenia, Recurrent sinus... |
OMIM:616576 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Blepharitis |
OMIM:615527 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Eczema, Macrocytic anemia, Megaloblastic anemia, Septic arthritis, Recurrent pneu... |
OMIM:617780 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Recurrent skin infections, Pustule |
ORPHA:302 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczema, Hemolytic anemia |
OMIM:177000 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Pruritus, Erythroderma, Keratitis |
ORPHA:79394 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule |
ORPHA:346 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis |
OMIM:613148 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Beta-Thalassemia |
|
Hepatitis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Allergic rhinitis, Erythroderma |
OMIM:608649 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... |
ORPHA:169154 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Infectious encephalitis, Erythroderma, Neutropenia, Anemia, Splenomegaly, Maculopapular exanthema... |
ORPHA:540 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis |
OMIM:616744 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Thrombocytopenia |
OMIM:617443 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Hemophagocytosis, Conjunctivitis |
OMIM:603552 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level |
OMIM:102730 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule |
OMIM:618847 |
Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Conjunctivitis |
OMIM:603165 |
Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
Sézary Syndrome |
|
Pruritus, Abnormal lymphocyte morphology, Erythroderma, Splenomegaly |
ORPHA:3162 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Punctate keratitis |
OMIM:602540 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous dermatitis |
ORPHA:79481 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... |
OMIM:152700 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Trichothiodystrophy 3, Photosensitive |
|
Erythroderma |
OMIM:616395 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Pustule, Septic arthritis |
ORPHA:36237 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... |
ORPHA:229717 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia, Cirrhosis |
OMIM:604250 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczema, Microcytic anemia |
ORPHA:79278 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... |
OMIM:618935 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
Corneodermatoosseous Syndrome |
|
Erythroderma |
OMIM:122440 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells,... |
ORPHA:331206 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Spherocytosis, Type 5 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612690 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Neutropenia |
OMIM:601495 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia |
OMIM:242700 |
Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia |
OMIM:231095 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Erythroderma |
OMIM:615508 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia |
OMIM:612528 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Recurrent cutaneous abscess formation, Chronic otitis media, Seborrhei... |
OMIM:618131 |
Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Eczema, Anemia, Leukopenia |
OMIM:618116 |
Indolent Systemic Mastocytosis |
|
Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increa... |
ORPHA:98848 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Erythroderma, Pruritus, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
Cyclic Neutropenia |
|
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... |
ORPHA:2686 |
Netherton Syndrome |
|
Hypereosinophilia, Allergic rhinitis, Erythroderma |
OMIM:256500 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... |
OMIM:301054 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c |
OMIM:610582 |
Elastoderma |
|
Eczema, Erysipelas |
ORPHA:228240 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum |
OMIM:611762 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... |
OMIM:600802 |
Lamellar Ichthyosis |
|
Chronic otitis media, Pruritus, Erythroderma |
ORPHA:313 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
Isovaleric Acidemia |
|
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia |
OMIM:243500 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Erythroderma, Conjunctivitis |
OMIM:242150 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... |
ORPHA:324964 |
Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus |
OMIM:254400 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Netherton Syndrome |
|
Eczema, Erythroderma, Skin rash |
ORPHA:634 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... |
ORPHA:2442 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis |
OMIM:612567 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... |
OMIM:109270 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
Familial Benign Copper Deficiency |
|
Anemia, Acne |
ORPHA:1551 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... |
ORPHA:64743 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... |
ORPHA:35078 |
Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma |
OMIM:609180 |
Dermatitis Herpetiformis |
|
Pruritus, Eczema, Microcytic anemia |
ORPHA:1656 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent skin infections, Extramedullary... |
OMIM:612840 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... |
OMIM:612541 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Anemia, Splenomegaly, Skin rash, Anemia of inadequate production |
OMIM:612714 |
Harlequin Ichthyosis |
|
Erythroderma |
ORPHA:457 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... |
OMIM:614700 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Leukocytosis, Erythroderma, Thrombocyt... |
ORPHA:3260 |
Pachydermoperiostosis |
|
Eczematoid dermatitis, Seborrheic dermatitis, Acne, Arthritis, Anemia, Osteomyelitis, Splenomegaly |
ORPHA:2796 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno... |
ORPHA:77297 |
Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia, Arthriti... |
ORPHA:31205 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Biotinidase Deficiency |
|
Seborrheic dermatitis, Splenomegaly, Recurrent skin infections, Skin rash, Conjunctivitis |
OMIM:253260 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90159 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly |
OMIM:616084 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Erythroderma, Lymphopenia |
OMIM:617425 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... |
ORPHA:760 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... |
ORPHA:100026 |
Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia |
OMIM:614204 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... |
OMIM:613179 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... |
ORPHA:508542 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus |
ORPHA:90158 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... |
ORPHA:231222 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Follicular hyperpl... |
OMIM:615934 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Erythroderma, Keratitis |
OMIM:308205 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612562 |
Primary Intestinal Lymphangiectasia |
|
Abnormal lymphatic vessel morphology, Anemia, Reduced proportion of CD4+ effector memory T cells,... |
ORPHA:90362 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Myositis, Leukemia, Pure red cell aplasia, Rheumatoid arthritis,... |
ORPHA:99867 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:37042 |
Legionnaires Disease |
|
Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Lymphopenia,... |
ORPHA:549 |
Iga Pemphigus |
|
Pustule, Pruritus, Neutrophilic infiltration of the skin, Eosinophilia, Ulcerative colitis, Cutan... |
ORPHA:555905 |
Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... |
ORPHA:1572 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis |
OMIM:259100 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Acute pancreatitis, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Normocytic anemia, Iron deficiency anemi... |
ORPHA:398063 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma |
ORPHA:35173 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Erythroderma |
OMIM:601675 |
Trichothiodystrophy |
|
Keratoconjunctivitis sicca, Eczema, Neutropenia, Anemia, Increased mean corpuscular hemoglobin co... |
ORPHA:33364 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash |
OMIM:617321 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Erythroderma |
OMIM:302960 |
Transketolase Deficiency |
|
Seborrheic dermatitis, Uveitis, Conjunctivitis |
ORPHA:488618 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Anemia, Bone marrow hypocellularity, Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia |
OMIM:127550 |
Monosomy 22 |
|
Seborrheic dermatitis, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia |
ORPHA:96123 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia |
ORPHA:293978 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
16Q24.3 Microdeletion Syndrome |
|
Thrombocytopenia, Increased mean corpuscular volume |
ORPHA:261250 |
Mirage Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen |
OMIM:617053 |
Nephrotic Syndrome, Type 14 |
|
Lymphopenia |
OMIM:617575 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... |
ORPHA:39812 |
Thrombocytopenia 1 |
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Decreased mean platelet volume, Eczema, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Pediatric Systemic Lupus Erythematosus |
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Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Fusariosis |
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Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Abnormality of ... |
ORPHA:228119 |
Thrombocytopenia-Absent Radius Syndrome |
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Leukocytosis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia |
OMIM:274000 |
Shwachman-Diamond Syndrome 1 |
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Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Bone marrow hypocellular... |
OMIM:615688 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Seborrheic dermatitis |
OMIM:210210 |
Ataxia-Telangiectasia |
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Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... |
OMIM:208900 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia, Abnormality of the pancreas |
ORPHA:935 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Hepatosplenom... |
ORPHA:391487 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Neutropenia, Bone marrow hypocellularity, Anemia, Panc... |
ORPHA:1830 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... |
OMIM:600903 |
Avian Influenza |
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Thrombocytopenia, Hepatitis, Lymphopenia, Leukopenia |
ORPHA:454836 |
Centrifugal Lipodystrophy |
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Inflammatory abnormality of the skin, Lymphadenitis |
ORPHA:90156 |
Lead Poisoning |
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Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Anemia... |
ORPHA:330015 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia |
OMIM:607944 |
Nijmegen Breakage Syndrome |
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B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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B lymphocytopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper... |
ORPHA:221139 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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B lymphocytopenia, Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic de... |
ORPHA:83617 |
Popov-Chang syndrome |
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Lymphopenia |
OMIM:618428 |
Immunodeficiency 23 |
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Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Enteroviral hepatitis, Absent circulating B cells |
OMIM:307200 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Infectious encephalitis, Abnormal hemoglobin |
ORPHA:847 |
Syndromic Diarrhea |
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Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Hypoplasia of the... |
ORPHA:84064 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Seborrheic dermatitis, Eczema |
ORPHA:369950 |
Whim Syndrome |
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Lymphadenitis, Lymphopenia, Neutropenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Seborrheic dermatitis |
ORPHA:276280 |
22Q11.2 Deletion Syndrome |
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Chronic otitis media, Seborrheic dermatitis, Hypoplasia of the thymus, Acne, Arthritis, Splenomeg... |
ORPHA:567 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Cervical lymphadenopathy, Jaundice, Hepatic steatosis, Lymphopenia, Decreased propo... |
OMIM:619573 |
Immunodeficiency 82 With Systemic Inflammation |
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B lymphocytopenia, Decreased proportion of naive T cells, Lymphadenopathy, Hepatitis, Anemia, Spl... |
OMIM:619381 |
Uremic Pruritus |
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Inflammatory abnormality of the skin, Pruritus, Recurrent skin infections |
ORPHA:94059 |
Wiskott-Aldrich Syndrome |
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Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Seborrheic dermatitis |
OMIM:300868 |
Melkersson-Rosenthal Syndrome |
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Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
Lujo Hemorrhagic Fever |
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Leukocytosis, Leukopenia, Fulminant hepatitis, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Anemia, Lymphopenia |
OMIM:616541 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hepatomegaly, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased p... |
ORPHA:508533 |
Cowden Syndrome 1 |
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Lymphopenia |
OMIM:158350 |
Hennekam Syndrome |
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Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Splenomegaly, Lymphopenia |
ORPHA:2136 |
Alg12-Cdg |
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Thrombocytopenia, B lymphocytopenia |
ORPHA:79324 |
Primary Sjögren Syndrome |
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Chronic active hepatitis, Normocytic anemia, Leukopenia, Lymphadenopathy, Chronic hepatitis, Norm... |
ORPHA:289390 |
Malakoplakia |
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Inflammatory abnormality of the skin, Urinary bladder inflammation, Pruritus, Skin rash, Orchitis |
ORPHA:556 |
Marburg Hemorrhagic Fever |
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Leukopenia, Neutrophilia in presence of infection, Lymphadenopathy, Abnormal lymphocyte morpholog... |
ORPHA:99826 |
Digeorge Syndrome |
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Seborrheic dermatitis, Acne |
OMIM:188400 |
Igg4-Related Kidney Disease |
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Inflammatory abnormality of the skin, Pericarditis, Tubulointerstitial nephritis, Urinary bladder... |
ORPHA:449395 |
Secondary Intestinal Lymphangiectasia |
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Cirrhosis, Lymphopenia |
ORPHA:90363 |
Eisenmenger Syndrome |
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Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Triglyceride Deposit Cardiomyovasculopathy |
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Inflammatory abnormality of the skin, Vacuolated lymphocytes, Pancreatitis, Splenomegaly |
ORPHA:565612 |
Cushing Disease |
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Leukocytosis, Lymphopenia, Decreased eosinophil count |
ORPHA:96253 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Neutropenia, Pneumonia, Rhiniti... |
ORPHA:95455 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Leukocytosis, Neoplasm of the thymus, Pancreatic adenocarcinoma, Pancreatoblastoma, Abnormality o... |
ORPHA:99889 |