Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema |
ORPHA:2841 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Darier Disease |
|
Skin vesicle, Plantar pits, Acrokeratosis, Macule, Hypermelanotic macule |
ORPHA:218 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticarial plaque, Erythe... |
ORPHA:64745 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... |
OMIM:607271 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas... |
OMIM:608106 |
Dowling-Degos Disease |
|
Palmar pits, Skin vesicle, Hyperpigmented papule, Hyperkeratotic papule, Digital pitting scar, Ep... |
ORPHA:79145 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... |
OMIM:300853 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Milia, Localized skin lesion, Hyperkeratotic papule, Skin vesicle, Keloids, Atrophic scars, Skin ... |
ORPHA:79410 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... |
OMIM:618982 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ... |
OMIM:300067 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Pemphigus Foliaceus |
|
Skin vesicle, Annular cutaneous lesion, Scaling skin, Skin erosion, Erythema, Erythematous plaque... |
ORPHA:79481 |
Dermatitis Herpetiformis |
|
Skin vesicle, Macule, Erythema |
ORPHA:1656 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absen... |
ORPHA:277 |
Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
Pyoderma Gangrenosum |
|
Skin vesicle, Atrophic scars, Skin ulcer, Papule |
ORPHA:48104 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Skin vesicle, Aplasia/Hypoplasia of the skin, Papule |
ORPHA:257 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Lichen Planus Pemphigoides |
|
Skin vesicle |
ORPHA:254478 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... |
OMIM:614470 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia |
OMIM:608971 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... |
ORPHA:444463 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:312863 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Lissencephaly 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... |
OMIM:611603 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital... |
ORPHA:352682 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia |
OMIM:247800 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpu... |
OMIM:604213 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Erythema migrans |
ORPHA:158681 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... |
OMIM:617241 |
Iga Pemphigus |
|
Skin plaque, Annular cutaneous lesion, Skin vesicle, Skin erosion |
ORPHA:555905 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... |
OMIM:613101 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune hemolytic anemia, Absence of lymph node germin... |
OMIM:608184 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... |
OMIM:240500 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Agyria, Pachygyria |
ORPHA:1084 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... |
ORPHA:859 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
Immunodeficiency 32A |
|
Granuloma, Lymphadenopathy, Lymphadenitis |
OMIM:614893 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr... |
OMIM:615559 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle |
OMIM:613102 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... |
OMIM:619510 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... |
OMIM:308240 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Immunodeficiency 27A |
|
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leuk... |
OMIM:209950 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... |
OMIM:618108 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc... |
OMIM:301082 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Agyria, Hydroc... |
OMIM:614643 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Porphyria Variegata |
|
Milia, Localized skin lesion, Skin vesicle, Skin erosion |
ORPHA:79473 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin vesicle, Skin ulcer, Papule |
ORPHA:2314 |
Band Heterotopia |
|
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... |
OMIM:600348 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Hennekam-Beemer Syndrome |
|
Skin vesicle, Papule, Macule, Subcutaneous nodule, Erythema |
ORPHA:2135 |
Lissencephaly 5 |
|
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Subcortical band he... |
OMIM:615191 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Increased circulating IgG ... |
OMIM:618495 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... |
OMIM:613011 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Periventricular heterotopia, Optic atrophy, Simplified gyral pattern, Macular atroph... |
OMIM:616171 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... |
OMIM:604317 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... |
OMIM:616100 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Enlarged tonsils, ... |
OMIM:308230 |
Sweet Syndrome |
|
Skin vesicle, Pyoderma gangrenosum, Skin nodule, Erythematous plaque, Erythematous papule |
ORPHA:3243 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Encephalocele, Abnormality of neuronal migration, Abnormality of ... |
ORPHA:65 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen, Decreased proportion of CD4-positive h... |
ORPHA:543 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:603552 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... |
ORPHA:35078 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... |
ORPHA:276 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... |
OMIM:618048 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Decreased lymphocyte proliferation in response to ... |
ORPHA:911 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615122 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Increased circulating IgM level, Leukocytosis, Splenomegaly |
ORPHA:37748 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... |
ORPHA:507 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:945 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Tularemia |
|
Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar... |
ORPHA:3392 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... |
ORPHA:572 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Dyskeratosis Congenita |
|
Skin vesicle, Skin ulcer, Hypopigmented skin patches, Macule, Aplasia/Hypoplasia of the skin, Hyp... |
ORPHA:1775 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:545 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Abnormal mast cell morph... |
ORPHA:98848 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Subependymal Nodular Heterotopia |
|
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... |
ORPHA:101030 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Optic atrophy, Abnormal cortical gyration, Retinal dystrophy, ... |
ORPHA:899 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Optic atrophy, Macular hypoplasia, Simplified gyral pattern, Communicati... |
OMIM:615219 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ly... |
OMIM:618935 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Optic atrophy, Polymicrogyria |
ORPHA:99802 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Thrombocy... |
ORPHA:83313 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal dystrophy, Gray matter heterotopia, Retinal thinning |
OMIM:615960 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... |
OMIM:617099 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Brain abscess, Liver abscess, Neutrophilia, Abnormality o... |
ORPHA:54251 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial... |
OMIM:616212 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:97290 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... |
ORPHA:3226 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal retinal morphology, Abnormality of neuronal migration, 4-layered lissencephaly, Microlis... |
ORPHA:89844 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp, Neonatal death |
OMIM:619817 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:319487 |
Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle |
ORPHA:99843 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration, Death in infancy, Abnormality of retinal pigmenta... |
ORPHA:2481 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Splenomegaly |
OMIM:615387 |
Chikungunya |
|
Petechiae, Skin vesicle, Macule, Erythema |
ORPHA:324625 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:2584 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... |
OMIM:614700 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria |
ORPHA:2512 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:3162 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, C... |
ORPHA:2686 |
Griscelli Syndrome |
|
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Lymphadenopathy, Bo... |
ORPHA:381 |
Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno... |
ORPHA:353298 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly |
OMIM:609981 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Pancytop... |
ORPHA:79124 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... |
ORPHA:98850 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... |
ORPHA:3261 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Lymphadenopathy, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia |
OMIM:607115 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia, Increased ... |
OMIM:242860 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Eosinophi... |
OMIM:304790 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Lymphadenopathy, Anemia |
ORPHA:858 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Type II lissenceph... |
ORPHA:370959 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopen... |
ORPHA:100026 |
Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Thymic Aplasia |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coombs-positive hem... |
ORPHA:83471 |
Vici Syndrome |
|
Gray matter heterotopia, Abnormal macular morphology, Death in infancy, Optic atrophy, Abnormalit... |
ORPHA:1493 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... |
OMIM:165550 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Ce... |
OMIM:614034 |
Immunodeficiency 40 |
|
Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho... |
OMIM:616433 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... |
OMIM:615607 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia, Hepatosplenomegaly |
OMIM:619750 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity |
ORPHA:391 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... |
OMIM:615758 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia |
ORPHA:56425 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Thrombocytopenia, Spl... |
OMIM:617591 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Chronic Graft Versus Host Disease |
|
Skin vesicle, Skin ulcer, Intermittent generalized erythematous papular rash, Erythema |
ORPHA:99921 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro... |
ORPHA:514 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Thrombocytosis, Increased circulating Ig... |
OMIM:615934 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti... |
OMIM:208900 |
Selective Igm Deficiency |
|
Lymphadenitis, Decreased circulating IgG level, Decreased circulating total IgM, Neutropenia in p... |
ORPHA:331235 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Optic disc pallor, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
Rhabdoid Tumor |
|
Thrombocytopenia, Lymphadenopathy, Anemia |
ORPHA:69077 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, ... |
ORPHA:158061 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Monocytosis, Thrombocytopenia |
OMIM:619644 |
Omenn Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:39041 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen... |
OMIM:207950 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia |
OMIM:615966 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Reduced natural killer cell activity, Decreased circulating antibody level, Lymphadenopat... |
ORPHA:540 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy... |
OMIM:260920 |
Felty Syndrome |
|
Anemia, Lymphadenopathy, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly... |
ORPHA:47612 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina... |
OMIM:120200 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Hydrocephalus, Encephalocele, Abnormality of neuronal migration |
ORPHA:93274 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele |
OMIM:164180 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Reduced natural killer cell activity, Pancytopenia, Hepatosplenomegaly, Lymph... |
OMIM:603553 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... |
OMIM:301000 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Retinal dystrophy |
OMIM:617622 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia |
OMIM:257200 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... |
OMIM:258900 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Decreased T cell activation, Decreased circulating IgG2 level, Lym... |
OMIM:242840 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative... |
OMIM:233710 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Autoimmune thrombocytopenia,... |
ORPHA:1572 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Impaired neutro... |
OMIM:214500 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly, Eosinophilia |
OMIM:616651 |
Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Leukocytosi... |
ORPHA:1451 |
Diffuse Cutaneous Mastocytosis |
|
Lymphocytosis, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder |
ORPHA:79456 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Bone marrow hypoce... |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Thrombocytopenia, Decreased specific anti-polysaccharide ... |
OMIM:614576 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative... |
OMIM:233690 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Abnormality of neuronal migration, Retinal dystrophy, Hydrocephalus, Chorioretinal... |
ORPHA:2318 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:85414 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:83469 |
Adult-Onset Still Disease |
|
Neutrophilia, Generalized lymphadenopathy, Bone marrow hypocellularity, Leukocytosis, Splenomegaly |
ORPHA:829 |
Mevalonic Aciduria |
|
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymph... |
OMIM:610377 |
3C Syndrome |
|
Abnormality of neuronal migration, Optic atrophy, Death in infancy, Hydrocephalus, Chorioretinal ... |
ORPHA:7 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... |
ORPHA:2211 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Agammaglobulinemia, Neutropenia, Panhypogammaglobulinemia |
OMIM:209920 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... |
ORPHA:35107 |
Castleman Disease |
|
Anemia, Generalized lymphadenopathy, Decreased mean corpuscular volume, Lymphadenopathy, Follicul... |
ORPHA:160 |
Hereditary Orotic Aciduria |
|
Anemia, Impaired T cell function, Splenomegaly |
ORPHA:30 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circul... |
OMIM:619381 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:619183 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Decreased circulating total IgM, Decreased lymphocyte proli... |
ORPHA:508533 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Retinal coloboma |
OMIM:619775 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Lymphopenia |
ORPHA:549 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:267700 |
Lig4 Syndrome |
|
Leukocytosis, Lymphadenopathy, Acute leukemia, Pancytopenia |
ORPHA:99812 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Macular hypoplasia, Hyaloid vascular remnant and ret... |
ORPHA:91495 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia, Optic nerve hypoplas... |
OMIM:603671 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... |
OMIM:618213 |
Multiple Myeloma |
|
Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I... |
ORPHA:29073 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly |
ORPHA:169090 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Hepatospleno... |
OMIM:615688 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Neonatal death, Hydrocephalus |
OMIM:187600 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Increased circulating IgA level |
ORPHA:343 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neutropenia |
OMIM:607944 |
Joubert Syndrome |
|
Hydrocephalus, Encephalocele, Abnormality of neuronal migration, Polymicrogyria |
ORPHA:475 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Lymphocytosis, Generalized lymphadenopathy, L... |
ORPHA:50918 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Webbed neck, Lissencephaly |
OMIM:617822 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaire... |
OMIM:306400 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Lymphadenopathy, Thrombocytopenia |
ORPHA:93552 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:809 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Immunodeficiency 31C |
|
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:614162 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
Chédiak-Higashi Syndrome |
|
Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Lymphadenopath... |
ORPHA:167 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... |
ORPHA:449432 |
American Trypanosomiasis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:3386 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Abnormality of neuronal migration, Optic atrophy, Abnormality of retina... |
ORPHA:192 |
Scrub Typhus |
|
Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
Waldenström Macroglobulinemia |
|
Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Monoclonal immunoglobul... |
ORPHA:33226 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Anemia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macrogyria, Lissence... |
ORPHA:2671 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Lymphoid leukemia |
ORPHA:79140 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Decreased mean platel... |
OMIM:617718 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Neonatal death, Polymicrogyria |
OMIM:614887 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydroce... |
OMIM:615287 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... |
ORPHA:157 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Splenomegaly |
OMIM:201100 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria |
ORPHA:2065 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:615895 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Chorioretinal coloboma, Occipital encephalocele... |
ORPHA:1454 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Lymphadenopathy, Eosinophilia |
ORPHA:139402 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Increased circ... |
ORPHA:37042 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Death in infancy |
OMIM:608836 |
Aicardi Syndrome |
|
Gray matter heterotopia, Optic atrophy, Lateral ventricle dilatation, Spina bifida, Partial agene... |
OMIM:304050 |
Pierson Syndrome |
|
Retinal hemorrhage, Macular hypoplasia, Retinal vascular tortuosity, Hypopigmentation of the fund... |
OMIM:609049 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy |
ORPHA:97289 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Retinopathy |
OMIM:617563 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Poems Syndrome |
|
Increased circulating antibody level, Thrombocytosis, Lymphadenopathy, Polycythemia |
ORPHA:2905 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Hypocomplementemic Urticarial Vasculitis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:36412 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
Q Fever |
|
Anemia, Granuloma, Increased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy, Thr... |
ORPHA:781 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Abnormality of neuronal migration, Optic atrophy, Death in infancy, S... |
ORPHA:991 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... |
ORPHA:228308 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Abnormality of T cell physiology, Generalized lymphadenopat... |
OMIM:181000 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Alobar ... |
OMIM:619895 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... |
OMIM:601390 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... |
OMIM:251260 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy, Reduced hematocrit |
ORPHA:79126 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Optic disc pallor, Death in childhood, Pigmentary retinopathy, Polymicro... |
OMIM:214100 |
Hennekam Syndrome |
|
Decreased circulating antibody level, Pulmonary lymphangiectasia, Lymphopenia, Lymphadenopathy, S... |
ORPHA:2136 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum |
ORPHA:261236 |
Full Nf2-Related Schwannomatosis |
|
Retinal hamartoma, Hydrocephalus, Epiretinal membrane, Remnants of the hyaloid vascular system, M... |
ORPHA:637 |
Malt Lymphoma |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Brucellosis |
|
Leukopenia, Anemia, Liver abscess, Hypersplenism, Granuloma, Lung abscess, Lymphadenopathy, Throm... |
ORPHA:1304 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Retinal fold, Remnants of the hyaloid vascular system |
OMIM:221900 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:39812 |
Holoprosencephaly |
|
Spinal dysraphism, Retinopathy, Encephalocele, Optic atrophy, Abnormality of neuronal migration, ... |
ORPHA:2162 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology |
OMIM:618223 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Carney Triad |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:139411 |
Lymphatic Filariasis |
|
Hypereosinophilia, Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormality of the lymphatic... |
ORPHA:2035 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Neonatal death, Frontal polymicrogyria, Pachygyria |
OMIM:620024 |
Immunodeficiency 58 |
|
Decreased T cell activation, Decreased circulating antibody level, Cutaneous abscess, Recurrent c... |
OMIM:618131 |
Bohring-Opitz Syndrome |
|
Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:605039 |
Farber Disease |
|
Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:333 |
Tangier Disease |
|
Anemia, Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thr... |
ORPHA:31150 |
Coccidioidomycosis |
|
Granuloma, Lymphadenopathy, Eosinophilia, Increased circulating IgM level, Mediastinal lymphadeno... |
ORPHA:228123 |
Primary Sjögren Syndrome |
|
Leukopenia, Decreased circulating antibody level, Increased circulating antibody level, Normocyti... |
ORPHA:289390 |
H Syndrome |
|
Lymphadenopathy, Histiocytosis, Microcytic anemia, Hepatosplenomegaly |
ORPHA:168569 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Cervical lymphadenopathy, Histiocytosis, Splenomegaly |
OMIM:602782 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly |
ORPHA:1333 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, Abnormal lymphocyte proliferation, Lymphopenia, Decrea... |
OMIM:619573 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
6Q Terminal Deletion Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Colpocep... |
ORPHA:75857 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Lymphadenopathy, Increased circulating IgA level, Increased cir... |
ORPHA:79078 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum |
ORPHA:314679 |
Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:199241 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Polysplenia, Lymphadenopathy, Accessory spleen, Splenomegaly |
OMIM:619418 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:247200 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Abnormality of neuronal migration |
ORPHA:464311 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia |
OMIM:615546 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Arima Syndrome |
|
Gray matter heterotopia, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma, Occipital meni... |
OMIM:243910 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gray matter heterotopia, Lateral ventricle dilatation, Death in infancy, Abnormal cortical gyrati... |
OMIM:210710 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Increased circulating antibody level, Reticulocytosis, Lymphopenia, Lymphadenopathy, ... |
ORPHA:99826 |
Holoprosencephaly 2 |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Remnants of the hyaloid vascular system, H... |
OMIM:157170 |
Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Neutrophilia, Pancytopenia, Lymphadenopathy, Leukocytosis, Increased circulating IgM ... |
ORPHA:99827 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Splenomegaly, Leukocytosis |
ORPHA:32960 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hydrocephalus |
OMIM:305450 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Dysplastic corpus callosum, Agenesis of... |
OMIM:618820 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, Thrombocy... |
OMIM:256040 |
Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus, Agenesis of... |
OMIM:311200 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration |
ORPHA:2754 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Arrhinencephaly, Stillbirth, Se... |
OMIM:236680 |
Sarcoidosis |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Lym... |
ORPHA:797 |
Igg4-Related Ophthalmic Disease |
|
Lymphadenopathy, Increased circulating IgG4 level, Increased circulating IgE level, Eosinophilia |
ORPHA:449563 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgG4 level, Increased circulating IgG level, Lymphadenopathy... |
ORPHA:449395 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum, Optic nerv... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum, Optic nerv... |
ORPHA:352665 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy |
ORPHA:100077 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Impaired T cell function, Abnormality of the tonsils, Thrombocytopenia,... |
ORPHA:567 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Bilateral Perisylvian Polymicrogyria |
|
Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian predominant ... |
ORPHA:98889 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia, Lymphadenopathy |
ORPHA:100076 |
Lymphangioleiomyomatosis |
|
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system |
ORPHA:538 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Familial Mediterranean Fever |
|
Lymphadenopathy, Splenomegaly |
ORPHA:342 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia, Death in infancy, Hydrocephalus, Neonatal d... |
OMIM:612289 |
Norrie Disease |
|
Optic atrophy, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Retina... |
ORPHA:649 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Lymphadenopathy, Splenomegaly |
ORPHA:667 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system |
OMIM:300166 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Digeorge Syndrome |
|
Anemia, Hypoplasia of the thymus, Abnormality of the thymus, Impaired T cell function, Thrombocyt... |
OMIM:188400 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Neoplasm of the thymus, Decreased eosinophil count, Lymphopenia, ... |
ORPHA:99889 |
Behçet Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:117 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Proteus Syndrome |
|
Gray matter heterotopia, Retinal hamartoma, Abnormality of retinal pigmentation, Retinal nonattac... |
ORPHA:744 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system |
OMIM:619539 |
Blau Syndrome |
|
Anemia, Lymphadenopathy, Splenomegaly |
ORPHA:90340 |
Leptospirosis |
|
Thrombocytopenia, Lymphadenopathy |
ORPHA:509 |
African Trypanosomiasis |
|
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly |
ORPHA:3385 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia cutis congenita |
ORPHA:79403 |