T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increas... |
ORPHA:169154 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... |
OMIM:618048 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Immunodeficiency 25 |
|
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, In... |
OMIM:610163 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... |
OMIM:308230 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Increased circulating IgA level, Elevated circulating C-reactive protein concentrati... |
OMIM:615934 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Follicular hyperplasia, Increased circulating IgG le... |
OMIM:603909 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... |
ORPHA:443811 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati... |
OMIM:619644 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin, Recurrent infections |
OMIM:235900 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, He... |
OMIM:300400 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... |
OMIM:619802 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hepatomegaly, Elevated circulating C-reactive protein concentrat... |
OMIM:617388 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... |
OMIM:619924 |
Immunodeficiency 50 |
|
Eczema, Lymphopenia, Neutropenia |
OMIM:300988 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... |
ORPHA:276 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Increased circulating IgA level, Neutrophilia, Leukocytosis, Elevated circulating... |
OMIM:617099 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Elevated circulating C-reactive protein concentratio... |
OMIM:615559 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613500 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... |
ORPHA:2442 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... |
ORPHA:169160 |
Trichothiodystrophy 3, Photosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Increased circulating IgA level, Lymphopenia, B... |
OMIM:616395 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... |
ORPHA:3261 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... |
OMIM:300635 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Atopic dermatitis, Pneumonia |
OMIM:617638 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... |
ORPHA:277 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia, Recurrent otitis media |
OMIM:616022 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Auto... |
OMIM:300853 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr... |
OMIM:300291 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... |
OMIM:212050 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... |
OMIM:616100 |
Immunodeficiency 48 |
|
Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglob... |
OMIM:269840 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Maculopapular exant... |
ORPHA:540 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Chilblain Lupus |
|
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, P... |
ORPHA:90280 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Alopecia, Recurrent skin infections, Lymphadenopathy, Recur... |
ORPHA:499 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... |
ORPHA:90064 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... |
OMIM:619220 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... |
OMIM:260920 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... |
OMIM:618986 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Rhinitis, Recurrent infection of the gastrointestinal tract, Recurren... |
ORPHA:486 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... |
ORPHA:331206 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Abnormal hair morphology, Edema, Recurrent skin infections |
ORPHA:345 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:605258 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Eczema, Bone marrow hypocellularity, Refractory anemia, Acute myeloid le... |
OMIM:616871 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Aplastic a... |
OMIM:308240 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Pancytopenia, Ulcerative coliti... |
OMIM:618394 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Splenomegaly, Alopecia, Eczema, Abnormality of the nail, Hyperkeratosis,... |
ORPHA:2584 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocyt... |
OMIM:608971 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Netherton Syndrome |
|
Sparse scalp hair, Congenital nonbullous ichthyosiform erythroderma, Decreased circulating IgG le... |
OMIM:256500 |
Immunodeficiency 95 |
|
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... |
OMIM:619773 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Re... |
OMIM:619510 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Splenomegaly |
ORPHA:75563 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... |
OMIM:600903 |
Hypotrichosis Simplex Of The Scalp |
|
Sparse scalp hair, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Fine hair, Pruritus, Slo... |
ORPHA:90368 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar hyperhidrosis, Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, ... |
ORPHA:498359 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent skin inf... |
OMIM:619752 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Wiskott-Aldrich Syndrome |
|
Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decr... |
OMIM:301000 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertrichosis, Increased circulating interleukin 8 concentration, Hepatomegaly, Elevated circula... |
OMIM:256040 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio... |
OMIM:609529 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... |
ORPHA:217390 |
Angiostrongyliasis |
|
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... |
ORPHA:74 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Splenomegaly |
ORPHA:228312 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis |
ORPHA:26137 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased ... |
OMIM:243700 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:35078 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Benign Cephalic Histiocytosis |
|
Histiocytosis, Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... |
OMIM:247800 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Tularemia |
|
Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno... |
ORPHA:3392 |
Insulin-Resistance Syndrome Type B |
|
Hirsutism, Decreased serum complement factor B, Increased circulating IgA level, Abnormal circula... |
ORPHA:2298 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Recurrent upper and lower respi... |
ORPHA:70593 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis, Recurrent infections, Recurrent skin infections |
OMIM:610680 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... |
OMIM:614372 |
Primary Biliary Cholangitis |
|
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Abnormal circulating... |
ORPHA:186 |
Evans Syndrome |
|
Petechiae, Bruising susceptibility, Pallor, Epistaxis, Syncope, Jaundice |
ORPHA:1959 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Follicular hyperkeratosis, Hyperkeratosis, Abnormal hair morphology, Alopecia of scalp |
ORPHA:69125 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... |
OMIM:102700 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Immunodeficiency, Common Variable, 10 |
|
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... |
OMIM:615577 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Netherton Syndrome |
|
Sparse scalp hair, Congenital nonbullous ichthyosiform erythroderma, Skin rash, Sparse eyebrow, S... |
ORPHA:634 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor, Hepatomegaly, Splenomegaly |
OMIM:615234 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... |
ORPHA:505 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, ... |
ORPHA:37748 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion, Pruritus, Ridged nail, Parakeratosis |
ORPHA:83453 |
Reticular Dysgenesis |
|
Skin rash, Leukopenia, Dehydration, Sepsis, Chronic otitis media, Abnormality of neutrophils, Dec... |
ORPHA:33355 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Onychomycosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... |
OMIM:147060 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:617241 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... |
ORPHA:79147 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Poikiloderma With Neutropenia |
|
Blepharitis, Recurrent otitis media, Recurrent bronchopulmonary infections, Skin rash, Splenomega... |
OMIM:604173 |
Acute Myelomonocytic Leukemia |
|
Pallor, Abnormal bleeding |
ORPHA:517 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... |
OMIM:613101 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Recurrent skin infections, Decreased serum creatinine, Recurrent... |
OMIM:617744 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Nail ... |
ORPHA:79503 |
Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag... |
OMIM:615122 |
Elliptocytosis 1 |
|
Pallor, Jaundice, Splenomegaly |
OMIM:611804 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid h... |
OMIM:612541 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Alopecia, Atrophic gastritis, Recu... |
OMIM:616576 |
Omenn Syndrome |
|
Recurrent fungal infections, Hepatomegaly, Hypoproteinemia, Splenomegaly, Alopecia, Eosinophilia,... |
OMIM:603554 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Hepatomegaly, Peritonitis, Arthritis, Recurrent aphthous stomati... |
ORPHA:343 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno... |
OMIM:618963 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Panniculitis, Splenom... |
OMIM:617591 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, Panhypoga... |
OMIM:601457 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... |
OMIM:615767 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Alopecia, Abnormal immunoglobulin level, Edema, Nail dystrophy, Eryth... |
ORPHA:3162 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Pruritus, Nail dystrophy, Abnormal toenail morphology, Increased circulating IgE ... |
ORPHA:89843 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Generalized edema, Decreased circulating IgA level, Opportunistic infection,... |
ORPHA:90362 |
Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, B lymphocytopenia, T lymphocytopenia, Inflammation of the large intestine, ... |
OMIM:618108 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Hyperkeratosis |
ORPHA:2297 |
Ichthyosis-Hypotrichosis Syndrome |
|
Ichthyosis, Sparse hair |
ORPHA:91132 |
Parana Hard Skin Syndrome |
|
Generalized hirsutism, Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyo... |
ORPHA:848 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus |
OMIM:146750 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Absent toenail, Ridg... |
ORPHA:89838 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Membr... |
ORPHA:91139 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis, Pruritus |
ORPHA:735 |
Myelofibrosis |
|
Pallor, Purpura, Splenomegaly |
OMIM:254450 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:615631 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev... |
OMIM:613011 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Immunodeficiency 86 |
|
Increased circulating IgM level, BCGitis, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Sepsis, Decreased prealbumin level, Pneum... |
ORPHA:37042 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Atopic dermatitis, Thick eyebrow, Sparse hair, Widow's peak |
OMIM:606242 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Congestive heart failure |
ORPHA:163596 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276556 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... |
ORPHA:29073 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, F... |
ORPHA:276575 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Hyperkeratosis, Absent eyelashes, Recurrent otitis media, Nail dystr... |
OMIM:618625 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal ... |
ORPHA:507 |
Immunodeficiency 15A |
|
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... |
OMIM:618204 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Ichthyosis, Hyp... |
OMIM:602540 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp... |
OMIM:614576 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Alopecia, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneo... |
OMIM:618282 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... |
OMIM:137100 |
Palmoplantar Keratoderma, Epidermolytic |
|
Palmar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplant... |
OMIM:144200 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Hepatomegaly, Jaundice |
OMIM:613839 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis, Ridged nail |
OMIM:101900 |
Peeling Skin Syndrome 1 |
|
Palmoplantar hyperhidrosis, Brittle hair, Eosinophilia, Nail dystrophy, Pruritus, Erythroderma, I... |
OMIM:270300 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... |
OMIM:153600 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin... |
OMIM:300861 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Dehydration, Sepsis, Chronic otit... |
ORPHA:33110 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Hypertrichosis, B lymphocytopenia, Decreased specific antibody response to vaccination, Recurrent... |
ORPHA:221139 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morpho... |
ORPHA:1008 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... |
OMIM:618116 |
Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:615522 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... |
OMIM:618523 |
Prolidase Deficiency |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Facial hirsutism, Eczema, Recur... |
OMIM:170100 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Cholecystitis, Jaundice, Reduced red cell pyr... |
OMIM:266200 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276580 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Alopecia, Sepsis, Abnormality of the lymphatic... |
ORPHA:47 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Alopecia, Dysgammaglobulinemia, Anemia, Ascites, Lympha... |
ORPHA:100025 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... |
OMIM:313900 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Alopecia, Severe infection, Eosinophilia, Eczema, Autoimmune th... |
OMIM:304790 |
Palmoplantar Keratoderma, Nagashima Type |
|
Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Hypergranulosis |
OMIM:615598 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Splenomegaly, Art... |
OMIM:611762 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... |
OMIM:607115 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Tachycardia, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Hemoglobin D Disease |
|
Pallor, Splenomegaly |
ORPHA:90039 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Tachycardia, Congestive heart failure, Splenomegaly |
ORPHA:90037 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Acanthosis nigricans, Arthralgia/arthritis |
ORPHA:411593 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
OMIM:614204 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal cytokine s... |
ORPHA:158048 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... |
OMIM:618806 |
Adult-Onset Still Disease |
|
Joint swelling, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-re... |
ORPHA:829 |
Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Skin rash, Alopecia, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, A... |
ORPHA:317 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Sterile abscess, Hep... |
OMIM:604416 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Absence of lymph node germinal center, Panhypogammaglobu... |
ORPHA:79124 |
Ulerythema Ophryogenesis |
|
Follicular hyperkeratosis, Contact dermatitis, Acne, Hyperkeratotic papule, Sparse lateral eyebrow |
ORPHA:3406 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegal... |
OMIM:612852 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:270220 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Sepsis, Coarse hair, Enlarged kidney, Long eyelashes, Bone marrow hypocellularity, ... |
OMIM:617303 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Splenomegaly, Pallor, Abnormal bleeding, Hepatosplenomegaly, Increased c... |
ORPHA:824 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration... |
ORPHA:381 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Onychogryposis of toenails, Dyst... |
OMIM:617294 |
Lamellar Ichthyosis |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dehydration, Sepsis, Chronic otitis media, Ichthy... |
ORPHA:313 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Prolidase Deficiency |
|
Hirsutism, Generalized hirsutism, Hepatomegaly, Low anterior hairline, Splenomegaly, Abnormal fin... |
ORPHA:742 |
Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Congenital nonbullous ichthyosiform erythroderma, Decreased circulating IgG level, Sp... |
OMIM:601675 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Jaundice |
OMIM:194380 |
Roifman Syndrome |
|
Hyperconvex nail, Eosinophilia, Eczema, Hepatosplenomegaly, Prominent eyelashes, Decreased circul... |
ORPHA:353298 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Blepharitis, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse ey... |
OMIM:602400 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema |
OMIM:147050 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Post-partum hemorrhage, Pallor, Oral cavity bleeding, Elevated hepatic transaminase, Ging... |
ORPHA:98870 |
Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Reduced circulating transferrin concentration, Cirr... |
ORPHA:90363 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... |
OMIM:614493 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Acquired Ichthyosis |
|
Recurrent skin infections, Ichthyosis, Hyperkeratosis, Pruritus, Palmoplantar keratoderma |
ORPHA:454 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, D... |
OMIM:619381 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, High-output congestive heart failure, Hepatomegaly, Spl... |
ORPHA:231222 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... |
OMIM:301078 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma,... |
OMIM:301220 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure |
ORPHA:49827 |
Alopecia Antibody Deficiency |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, De... |
ORPHA:1006 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Alopecia |
OMIM:212835 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Increased circulating IgM le... |
ORPHA:448237 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... |
OMIM:613736 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Eczema, Hypohidrosis, Abnormal fingernail morphology, Thin skin |
ORPHA:1810 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Nai... |
OMIM:212360 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Ichthyosis, Superficial dermal perivascular inflammatory in... |
ORPHA:87503 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Facial edema, Palpebral edema, Xerostomia, Myositis, Increased c... |
ORPHA:79078 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Eczema, Increased circulating IgG level, Membranoproliferativ... |
OMIM:615816 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Sparse hair, Reduced terminal:vellus ratio |
OMIM:601553 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... |
ORPHA:125 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Palmar hyperkeratosis, Plantar hyperkeratosis, Hyperkeratosis, Pruritus, Nail dystrophy |
ORPHA:79399 |
Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Sinusitis, Lymphopenia, Decreased circulating IgG level, Elevate... |
OMIM:208900 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Mogs-Cdg |
|
Decreased circulating IgA level, Hirsutism, Decreased circulating IgG level, Hepatomegaly, Pulmon... |
ORPHA:79330 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Sinusitis, T lymphocytopenia, Increased circulating IgM level, P... |
OMIM:242860 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Parakeratosis, Skin rash, Splenomegaly, Maculopapular exanthema, Aplas... |
ORPHA:398124 |
Popov-Chang syndrome |
|
Lymphopenia, Coarse hair, Hyperkeratosis, Decreased circulating antibody level, Recurrent otitis ... |
OMIM:618428 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy |
OMIM:300652 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Hepatomegaly, Alopecia, Elevated circulating creatine kinase concentration, Erysi... |
OMIM:615704 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Bruising susceptibility, Splenomegaly, Pallor, Intracranial hemorrhage, Prolonged b... |
ORPHA:3226 |
Immunodeficiency 58 |
|
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... |
OMIM:618131 |
Boutonneuse Fever |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... |
ORPHA:83313 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Hepatomegaly, Skin rash, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Ab... |
ORPHA:92 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Sparse hair, Recurrent skin infections, Psoriasiform dermatitis, Hypernatremia, A... |
OMIM:615508 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Cirrhosis, Fragile nails, Ichthyosis, Hypoalbuminemia, Decreased circulati... |
OMIM:242150 |
Autoimmune Hemolytic Anemia |
|
Pallor, Arrhythmia, Congestive heart failure, Splenomegaly |
ORPHA:98375 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Palmopla... |
OMIM:242300 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Sepsis, Abnormality of the lymphatic system, Abnormal lymphoc... |
ORPHA:229717 |
Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, ... |
OMIM:615024 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Alopecia, Aplasia/Hypoplasia of the eyebrow, Eosinophil... |
ORPHA:39041 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Bathing Suit Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Hypohidrosis, Palmoplant... |
ORPHA:100976 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... |
ORPHA:85436 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Tachycardia, Jaundice, Congestive heart failure |
ORPHA:90033 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Sparse body hair... |
ORPHA:59303 |
Purine Nucleoside Phosphorylase Deficiency |
|
Otitis media, Impaired T cell function, Recurrent opportunistic infections, Pneumonia, Recurrent ... |
OMIM:613179 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Recurrent infections, Thyroiditis |
OMIM:618985 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail |
OMIM:614931 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... |
OMIM:600802 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Follicular hyperkeratosis, Palmoplantar keratoderma, Hyperhidrosis, Cardiomegaly, Co... |
OMIM:613576 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eosinophilia, Eczema, Paronychia, Chronic otitis media, Recurrent infec... |
ORPHA:2314 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart fai... |
ORPHA:3386 |
Bazex Syndrome |
|
Yellow nails, Acanthosis nigricans, Hyperkeratosis, Edema, Nail dystrophy, Pruritus, Palmoplantar... |
ORPHA:166113 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive protein concentratio... |
OMIM:610377 |
Epidermolytic Palmoplantar Keratoderma |
|
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormal... |
ORPHA:2199 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Pancytopenia, Gener... |
OMIM:603553 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Conjugated hyperbilirubinemia,... |
OMIM:214900 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Bazex Syndrome |
|
Pili torti, Sparse hair, Eczema, Acne inversa, Atopic dermatitis, Coarse hair, Trichorrhexis nodo... |
OMIM:301845 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Cheilitis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Perioral ... |
OMIM:619208 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... |
OMIM:615952 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Abnormal hair mo... |
ORPHA:346 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Pallor, Increased hepatic ... |
ORPHA:263455 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... |
OMIM:618935 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy |
ORPHA:482 |
Senior-Loken Syndrome 8 |
|
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Thick eyebrow, Sparse hair, Eczema, Elevated circulating creatine kinase concentration, Synophrys |
OMIM:611091 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Hirsutism, Hepatomegaly, Splenomegaly, Acanthosis nigricans, Ele... |
OMIM:613327 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Sepsis, Recur... |
OMIM:233600 |
Moynahan Syndrome |
|
Hyperkeratosis, Sparse hair, Alopecia |
ORPHA:2574 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... |
OMIM:619693 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Hypereosi... |
ORPHA:2902 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... |
ORPHA:2137 |
Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parakeratosis, Alopecia, Palmop... |
ORPHA:79395 |
Proteus Syndrome |
|
Lymphangioma, Hyperkeratosis, Splenomegaly |
OMIM:176920 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Skin rash, Leukopenia, Hydrops fetalis, Sepsis, Cholestasis, Abnorm... |
ORPHA:292 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Prolonge... |
OMIM:300972 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... |
ORPHA:449400 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, S... |
ORPHA:85414 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse hair, Brittle hair, Tiger tail banding, Decreased circulating antibody level, Recurrent in... |
OMIM:300953 |
Papillon-Lefèvre Syndrome |
|
Periodontitis, Chronic furunculosis, Hypertrichosis, Pustule, Generalized hirsutism, Recurrent sk... |
ORPHA:678 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia of scalp, Alopecia |
OMIM:136300 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the large in... |
OMIM:608809 |
Q Fever |
|
Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Inc... |
ORPHA:781 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Pal... |
ORPHA:2251 |
Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Prur... |
OMIM:614594 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
Olmsted Syndrome, X-Linked |
|
Blepharitis, Posterior blepharitis, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopec... |
OMIM:300918 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Brittle hair, Patchy alopecia, Follicular hyperkeratosi... |
ORPHA:573 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse hair, Sparse eyebrow, Tiger tail banding, Ichthyosis, Nail dystrophy |
OMIM:619692 |
Hypotrichosis 6 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosi... |
OMIM:607903 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... |
ORPHA:723 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Honeycomb palmoplantar hyperke... |
ORPHA:494 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Thickened skin |
OMIM:247100 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Eczema, Pancytopenia, Bone m... |
OMIM:615688 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Kid Syndrome |
|
Keratitis, Sparse hair, Sparse eyebrow, Acne inversa, Sepsis, Punctate keratitis, Onychogryposis,... |
ORPHA:477 |
Meige Disease |
|
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... |
ORPHA:90186 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Splenomegaly, Pallor, Abnormal bleeding, Congestive heart failure |
ORPHA:75564 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Joint swelling, Osteomyelitis... |
OMIM:609628 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent infections |
OMIM:605309 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... |
ORPHA:98848 |
Poems Syndrome |
|
Increased circulating antibody level, Hypertrichosis, Leukonychia, Abnormality of skin physiology... |
ORPHA:2905 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Osteoart... |
ORPHA:77259 |
Oliver-Mcfarlane Syndrome |
|
Long eyebrows, Long eyelashes, Sparse hair, Alopecia |
OMIM:275400 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertrichosis, Eczema, Ichthyosis, Microcytic anemia, Hyperkeratosis |
OMIM:612379 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Po... |
OMIM:613385 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Recurrent urinary t... |
ORPHA:169105 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr... |
OMIM:615895 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... |
ORPHA:48104 |
Ichthyosis Prematurity Syndrome |
|
Follicular hyperkeratosis, Polyhydramnios, Allergic rhinitis, Pruritus, Erythroderma, Generalized... |
OMIM:608649 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent infection of the gastrointestinal tract, Sparse hair, Hypohidrosis, Anhidrosis, Aplasia... |
OMIM:612132 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating IgG level, Alopecia, Sparse eyelashes, Dec... |
OMIM:620040 |
Idiopathic Trachyonychia |
|
Nail pits, Patchy alopecia, Toenail dysplasia, Abnormality of the periungual region, Fragile nail... |
ORPHA:79153 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Pityriasis Rubra Pilaris |
|
Pustule, Eczema, Subungual hyperkeratosis, Ichthyosis, Pruritus, Erythroderma, Palmoplantar kerat... |
ORPHA:2897 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Nail dystrophy, Palmoplantar keratoderma, Anemia, Scarring alopecia ... |
ORPHA:79402 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenop... |
ORPHA:2686 |
Trichohepatoenteric Syndrome 2 |
|
Colitis, Hepatomegaly, Sparse hair, Woolly hair, Brittle hair, Cirrhosis, Chronic hepatitis, Tric... |
OMIM:614602 |
Chromomycosis |
|
Keratitis, Predominantly lower limb lymphedema, Hyperkeratotic papule, Recurrent bacterial infect... |
ORPHA:182 |
Lipoid Proteinosis |
|
Pustule, Alopecia of scalp, Hyperkeratosis, Acne, Recurrent respiratory infections, Thickened skin |
ORPHA:530 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abno... |
ORPHA:391487 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Pustule, Elevated creatine kinase after exercise, Superficial dermal perivascular inflammatory in... |
ORPHA:284426 |
Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Eczema, Aplast... |
OMIM:617052 |
Aspergillosis |
|
Keratitis, Bronchiectasis, Sinusitis, Osteomyelitis, Unusual CNS infection, Invasive pulmonary as... |
ORPHA:1163 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Arthritis, Uveiti... |
OMIM:120100 |
Noonan Syndrome 8 |
|
Left ventricular hypertrophy, Eczema, Polyhydramnios, Hyperkeratosis, Pleural effusion, Webbed ne... |
OMIM:615355 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Abnormality of the periungual region, Severe B lymphocytopenia, Sepsis, Autoimmune thro... |
ORPHA:293978 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, Eczema, T lymphocyto... |
OMIM:615607 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... |
ORPHA:542323 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Pustule, Paronychia, Onychogryposis, Erythroderma, Increased circulating IgE level |
OMIM:614328 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Sepsis, A... |
ORPHA:319218 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... |
ORPHA:1818 |
Bacterial Toxic-Shock Syndrome |
|
Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati... |
ORPHA:36234 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis |
ORPHA:300179 |
Schopf-Schulz-Passarge Syndrome |
|
Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Palmoplantar keratoderma, Apocrine hi... |
OMIM:224750 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Eczema, Xerostomia, Trichor... |
ORPHA:238468 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Recurrent respiratory infections |
DECIPHER:45 |
Brucellosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, H... |
ORPHA:1304 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Dehydration, Long eyelashes, Recurrent pneumonia, Edema, Recurrent bronchiolitis |
OMIM:616069 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Restrictive cardiomyopathy, Skin ulcer, Jaundice |
ORPHA:822 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233710 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Skin rash, Decreased serum complement C3, Complement deficiency, Decreased serum complement C4, A... |
ORPHA:567544 |
Neutrophilic Dermatosis, Acute Febrile |
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Cystic acne, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive p... |
OMIM:608068 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
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Leukonychia, Woolly hair, Fragile nails, Ichthyosis, Hyperkeratosis, Nail dystrophy, Pruritus, Pa... |
OMIM:615821 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
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Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:617525 |
Majeed Syndrome |
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Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the skin, Leukocytosis, Congenital hypop... |
ORPHA:77297 |
Smith-Kingsmore Syndrome |
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Decreased circulating IgA level, Thrombocytopenia, Curly hair |
OMIM:616638 |
Letterer-Siwe Disease |
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Pallor, Hepatosplenomegaly, Jaundice |
OMIM:246400 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
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Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Retinitis Pigmentosa 75 |
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Pallor |
OMIM:617023 |
Cronkhite-Canada Syndrome |
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Hypoplastic toenails, Hepatomegaly, Patchy alopecia, Alopecia, Splenomegaly, Sparse body hair, Ap... |
ORPHA:2930 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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