Psychogenic Movement Disorders |
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Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Chorea, Benign Hereditary |
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Dementia, Gait disturbance |
OMIM:118700 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Lymphocytosis |
OMIM:606445 |
Progressive Multifocal Leukoencephalopathy |
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Mental deterioration, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-po... |
ORPHA:217260 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Aicardi-Goutieres Syndrome 2 |
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Lymphocytosis |
OMIM:610181 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Dementia, ... |
ORPHA:101096 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Lymphoproliferative Syndrome 3 |
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Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Autoinflammation With Infantile Enterocolitis |
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Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Selective Igm Deficiency |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Pgm3-Cdg |
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Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:620133 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... |
OMIM:619381 |