Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
Cephalin Lipidosis |
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Abnormality of the spleen |
OMIM:212800 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 104 |
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Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
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 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 19 |
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Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce... |
OMIM:615617 |
Immunodeficiency 48 |
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Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis |
OMIM:269840 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l... |
OMIM:619924 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce... |
OMIM:615513 |
Immunodeficiency 13 |
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Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Immunodeficiency 75 With Lymphoproliferation |
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Follicular hyperplasia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Ly... |
OMIM:619126 |
Graft Versus Host Disease |
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Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... |
ORPHA:39812 |
Immunodeficiency 24 |
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Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis, Abnormal pro... |
OMIM:212050 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia |
OMIM:614493 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells, Bronchiectasis |
OMIM:608957 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... |
ORPHA:277 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... |
OMIM:601457 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Immunodeficiency, Common Variable, 1 |
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Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... |
OMIM:607594 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, Increased proportion of memory T ce... |
OMIM:618982 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... |
OMIM:301082 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of transitional B cells, B lymp... |
OMIM:618459 |
Immunodeficiency 57 With Autoinflammation |
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Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... |
OMIM:618108 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... |
OMIM:620282 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... |
OMIM:611926 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Papulovesicular erupt... |
ORPHA:330058 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Recurre... |
OMIM:618986 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Lacrimation abnormality, Hypohidrosis |
ORPHA:1484 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... |
ORPHA:397596 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Agammaglobulinemia 6, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Recurrent oti... |
OMIM:612692 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Epiphora |
OMIM:148200 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, T lymphocytopenia, B lymphocyt... |
ORPHA:217390 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... |
OMIM:619281 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Conjunctivitis, Erythroderma, Cirrhosis, Decreased lacrimation |
OMIM:242150 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hypohidrosis, Recurrent skin infections, Decreased lacrimation |
OMIM:616488 |
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 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod... |
ORPHA:169154 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Immunodeficiency 70 |
|
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... |
OMIM:618969 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ... |
OMIM:616005 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Cryptorchidism, Uveitis, Hypohidrosis, Conjunctivitis, Anemia, Decreased lacrimation |
ORPHA:90321 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent sinusitis, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Alacrima, Congenital, Autosomal Dominant |
|
Lacrimal gland hypoplasia, Alacrima, Decreased lacrimation |
OMIM:103420 |
Epithelial Recurrent Erosion Dystrophy |
|
Epiphora |
OMIM:122400 |
Corneal Dystrophy, Meesmann, 2 |
|
Epiphora |
OMIM:618767 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Lacrimation abnormality, Hypohidrosis |
ORPHA:1882 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Keratosis Pilaris Atrophicans |
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Epiphora |
OMIM:604093 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Lacrimation abnormality |
ORPHA:1562 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Alacrima |
OMIM:240000 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent ... |
OMIM:619705 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel... |
OMIM:619510 |
Corneal Dystrophy, Meesmann, 1 |
|
Epiphora |
OMIM:122100 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Portal hypertension, Cryptorchidism, Hypohidrosis, Hepatosplenomegaly, Alacrima, Decreased lacrim... |
OMIM:609136 |
Paroxysmal Extreme Pain Disorder |
|
Lacrimation abnormality |
OMIM:167400 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,... |
OMIM:301081 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis |
OMIM:619693 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Splenomegaly, Hypohidrosis, Decreased lacrimation |
ORPHA:163746 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, Rhinitis, B lymphocytopenia, Otitis media, Decreased proportion of ... |
ORPHA:70593 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Alacrima, Congenital, Autosomal Recessive |
|
Alacrima |
OMIM:601549 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Alacrima |
OMIM:617671 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Hypohidrosis, Decreased lacrimation |
OMIM:613451 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Lymphadenopathy, B lym... |
OMIM:618048 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope... |
OMIM:615607 |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Alacrima |
OMIM:608088 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Vernal Keratoconjunctivitis |
|
Punctate keratitis, Lacrimation abnormality |
ORPHA:70476 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Decreased lacrimation |
ORPHA:240071 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... |
OMIM:619004 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Alacrima |
OMIM:300858 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Adrenocorticotropin receptor defect, Adrenal insufficiency,... |
OMIM:231550 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomegaly, Micronodular cirrhosis, Mi... |
ORPHA:404454 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Lacrimation abnormality |
ORPHA:1135 |
Immunodeficiency 40 |
|
Hepatomegaly, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumo... |
OMIM:616433 |
Chondroectodermal Dysplasia With Night Blindness |
|
Otitis media, Epiphora, Hyperhidrosis |
ORPHA:319195 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... |
OMIM:615966 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Conjunctivitis, Alacrima |
OMIM:620192 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Cockayne Syndrome A |
|
Hepatomegaly, Anhidrosis, Splenomegaly, Cryptorchidism, Thymic hormone decreased, Decreased lacri... |
OMIM:216400 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... |
ORPHA:35078 |
Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism, Lacrimation abnormality |
ORPHA:1252 |
Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Alacrima |
ORPHA:91416 |
Stuve-Wiedemann Syndrome 1 |
|
Hyperhidrosis, Decreased lacrimation |
OMIM:601559 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Thrombocytopenia, Alacrima |
OMIM:619005 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Epiphora, Bone marrow hypocellularity,... |
OMIM:613990 |
Cockayne Syndrome B |
|
Hepatomegaly, Anhidrosis, Splenomegaly, Cryptorchidism, Decreased lacrimation |
OMIM:133540 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count... |
OMIM:618394 |
Johanson-Blizzard Syndrome |
|
Abnormality of the pancreas, Lacrimation abnormality, Anemia, Exocrine pancreatic insufficiency |
ORPHA:2315 |
Immunodeficiency 43 |
|
Bronchiectasis, Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Xerostomia, Alacrima |
OMIM:620193 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Limbal Stem Cell Deficiency |
|
Keratitis, Lacrimation abnormality, Epiphora |
ORPHA:171673 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma |
OMIM:610163 |
Cockayne Syndrome |
|
Hepatomegaly, Anhidrosis, Splenomegaly, Cryptorchidism, Keratoconjunctivitis sicca, Malar rash, A... |
ORPHA:191 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... |
OMIM:620133 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Bone marrow hypocellularity, Epiphora |
OMIM:616353 |
Lacrimal Duct Defect |
|
Sinusitis, Conjunctivitis, Epiphora |
OMIM:149700 |
Kilquist Syndrome |
|
Xerostomia, Alacrima |
OMIM:619080 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Hypohidrosis, Alacrima, Hyperhidrosis |
ORPHA:1764 |
Sunct Syndrome |
|
Episodic hyperhidrosis, Increased tear production, Epiphora, Hyperhidrosis |
ORPHA:57145 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Alacrima |
OMIM:615560 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia, Hepatic fibrosis, Bone marrow hypocellularity, E... |
OMIM:224230 |
Focal Facial Dermal Dysplasia Type Iii |
|
Lacrimation abnormality |
ORPHA:1807 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Alacrima |
ORPHA:289483 |
Trisomy 8P |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Decreased lacrimation |
ORPHA:264450 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... |
OMIM:300755 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Pneumonia |
OMIM:614069 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Adrenal insufficiency, Alacrima, Hypohidrosis |
OMIM:615510 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... |
ORPHA:83471 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
ORPHA:293987 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Episodic hyperhidrosis, Alacrima |
OMIM:223900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Esophagitis, Hepatic steatosis, Alacrima |
OMIM:615356 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Epiphora, Hepatic necrosis |
ORPHA:100093 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Epiphora |
ORPHA:137599 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunctivitis, Neutropen... |
OMIM:601495 |
Mucoepithelial Dysplasia, Hereditary |
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Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Alacrima, Hyperhidrosis |
OMIM:614653 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Eec Syndrome |
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Lacrimation abnormality, Decreased response to growth hormone stimulation test, Keratitis, Xerost... |
ORPHA:1896 |
Paroxysmal Hemicrania |
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Rhinitis, Epiphora |
ORPHA:157835 |
Congenital Disorder Of Deglycosylation 1 |
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Hepatomegaly, Anhidrosis, Hyperhidrosis, Hepatic fibrosis, Alacrima |
OMIM:615273 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease... |
ORPHA:293978 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Elevated circulating luteinizing hormone level, Polycystic ovaries, Lacrimal gland ... |
ORPHA:572333 |
Branchiootorenal Syndrome 1 |
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Gustatory lacrimation, Euthyroid goiter, Lacrimation abnormality |
OMIM:113650 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Neurotrophic Keratopathy |
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Anterior uveitis, Lacrimation abnormality |
ORPHA:137596 |
Schinzel-Giedion Syndrome |
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Streak ovary, Recurrent pneumonia, Annular pancreas, Central hypothyroidism, Hepatoblastoma, Myel... |
ORPHA:798 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... |
ORPHA:508542 |
Waardenburg Syndrome Type 1 |
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Lacrimation abnormality |
ORPHA:894 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Alacrima |
OMIM:618548 |
Acrocraniofacial Dysostosis |
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Lacrimation abnormality |
ORPHA:949 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Epithelial Recurrent Erosion Dystrophy |
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Keratoconjunctivitis sicca, Epiphora |
ORPHA:293381 |
Dyskeratosis Congenita, Digenic |
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Epiphora, Decreased testicular size, Anemia |
OMIM:620040 |
Hyperostosis Cranialis Interna |
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Epiphora |
OMIM:144755 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Osteomyelitis, Pneumonia, Skin rash, Follicular hyperplasi... |
OMIM:619381 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Epiphora |
OMIM:167730 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Hyperhidrosis, Anemia, Leukopenia, Epiphora... |
OMIM:305000 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Chronic gastritis, Skin rash, Perianal abscess, Iron deficiency anemia, Inflammation of the large... |
OMIM:301074 |
Gelatinous Drop-Like Corneal Dystrophy |
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Epiphora |
ORPHA:98957 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Lacrimation abnormality |
ORPHA:2916 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Macronodular cir... |
OMIM:620005 |
Nasolacrimal Duct Cyst |
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Chronic irritative conjunctivitis, Epiphora |
ORPHA:141083 |
Cone-Rod Dystrophy 10 |
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Epiphora |
OMIM:610283 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent otitis medi... |
OMIM:607944 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Lacrimation abnormality, Thrombocytopenia, Cryptorchidism, Cheilitis, Arthri... |
ORPHA:534 |
Waardenburg Syndrome |
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Lacrimation abnormality |
ORPHA:3440 |
Cone-Rod Dystrophy 8 |
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Epiphora |
OMIM:605549 |
Posterior Polymorphous Corneal Dystrophy |
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Lacrimation abnormality |
ORPHA:98973 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Psoriasiform dermatitis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Chron... |
ORPHA:221139 |
Ataxia-Telangiectasia |
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Sinusitis, Bronchiectasis, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thy... |
OMIM:208900 |
Stüve-Wiedemann Syndrome |
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Lacrimation abnormality, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Hypothyroidism |
ORPHA:3206 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Sinusitis, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B... |
OMIM:251260 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... |
ORPHA:508533 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Epiphora |
ORPHA:2399 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ... |
ORPHA:83617 |
Amoebiasis Due To Free-Living Amoebae |
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Sinusitis, Pneumonia, Pustule, Granuloma, Increased tear production, Infectious encephalitis, Inc... |
ORPHA:68 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia |
ORPHA:2959 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Xerostomia, Lacrimal gland hypoplasia, Conjunctivitis, Aplasia of the pa... |
OMIM:149730 |
Vici Syndrome |
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Chronic mucocutaneous candidiasis, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neu... |
OMIM:242840 |
Charge Syndrome |
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Cryptorchidism, Anterior hypopituitarism, Lacrimation abnormality |
ORPHA:138 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Xerostom... |
ORPHA:95455 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Epiphora |
OMIM:122000 |
Alg12-Cdg |
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Cryptorchidism, Recurrent pneumonia, B lymphocytopenia, Chronic rhinitis, Thrombocytopenia |
ORPHA:79324 |
Williams Syndrome |
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Lacrimation abnormality, Cryptorchidism, Polycystic ovaries, Chronic otitis media, Cholelithiasis... |
ORPHA:904 |
Lacrimoauriculodentodigital Syndrome |
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Cryptorchidism, Xerostomia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Abnormal... |
ORPHA:2363 |
Persistent Hyperplastic Primary Vitreous |
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Epiphora |
ORPHA:91495 |