Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Whim Syndrome 2 |
|
Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Neutropenia, Sepsis, Decreased circ... |
OMIM:616740 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Neutropenia, Chronic Familial |
|
Neutropenia, Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... |
OMIM:615897 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:618204 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... |
ORPHA:436159 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+... |
OMIM:606367 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... |
ORPHA:70578 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume |
OMIM:617443 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... |
ORPHA:324964 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Severe varicella zos... |
OMIM:615387 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... |
OMIM:608971 |
Immunodeficiency 88 |
|
BCGosis, Eosinophilia |
OMIM:619630 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... |
OMIM:601495 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Lymphopenia, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneum... |
ORPHA:169160 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Ato... |
OMIM:619752 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... |
OMIM:618935 |
Immunodeficiency 48 |
|
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Panhypogammaglob... |
OMIM:269840 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Edema, Thrombocytopenia, Splenomegaly, Conjunctivitis, Hemophagocytosis, Neutropenia, ... |
OMIM:603552 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Psoriasifor... |
ORPHA:37042 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti... |
OMIM:615577 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... |
ORPHA:2686 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
Eosinophilic Fasciitis |
|
Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Edema, Arthritis, Muscular edema |
ORPHA:3165 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... |
OMIM:618108 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic... |
ORPHA:75564 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Pleural effusion, Pancreatitis, Pulmonary e... |
ORPHA:188 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Edema, Pulmonary edema |
OMIM:267450 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... |
OMIM:229050 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening... |
ORPHA:464370 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... |
OMIM:300400 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Thrombocytopenia, Splenomegaly, Opportunistic bacteri... |
ORPHA:158048 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Gait disturbance, Decreased testicular size |
ORPHA:1875 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Sepsis, Pulmonary edema |
ORPHA:70587 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... |
ORPHA:90280 |
Psoriasis 2 |
|
Psoriasiform dermatitis |
OMIM:602723 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Abn... |
ORPHA:47 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Atelectasis, Recurrent E. coli infections, Ascites,... |
OMIM:306400 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis |
OMIM:616834 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology |
ORPHA:724 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Abnormal T cell subset distribution, Decreased... |
ORPHA:221139 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613736 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... |
OMIM:304790 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... |
OMIM:147060 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... |
OMIM:615816 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope... |
ORPHA:158061 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Recurrent aphthous stomatitis... |
OMIM:260570 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology |
ORPHA:2582 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Hypersensitivity pneumonitis, Menin... |
ORPHA:1163 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leukemia, Chronic sinusitis, Thrombocy... |
OMIM:606593 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma... |
ORPHA:158057 |
High Altitude Pulmonary Edema |
|
Leukocytosis, Pulmonary edema |
ORPHA:330012 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ... |
ORPHA:238459 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Recurrent infections, Gout, Neutropenia |
OMIM:617056 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumon... |
ORPHA:293978 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na... |
ORPHA:540 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease... |
OMIM:619510 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Mogs-Cdg |
|
Generalized edema, Pulmonary edema, Edema, Polyhydramnios, Decreased circulating antibody level, ... |
ORPHA:79330 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash |
OMIM:619175 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Impaired T... |
OMIM:613179 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Hemochromatosis, Type 3 |
|
Arthritis, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Splenomegaly, Dehydration, Neutropenia, Pancreatitis, Anemia |
ORPHA:79312 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow hypocellular... |
ORPHA:88 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... |
OMIM:604416 |
Wild Type Attr Amyloidosis |
|
Pleural effusion, Abnormal pulmonary interstitial morphology, Pedal edema, Pulmonary edema |
ORPHA:330001 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Schnitzler Syndrome |
|
Skin rash, Pruritus, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arthritis, Anemia |
ORPHA:37748 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis |
OMIM:616871 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Chédiak-Higashi Syndrome |
|
Edema, Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, A... |
ORPHA:167 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Facial edema, ... |
ORPHA:293173 |
Intermediate Uveitis |
|
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis |
ORPHA:279914 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent respiratory infections, Recurrent skin infections, Allergic ... |
OMIM:256500 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... |
ORPHA:275 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis |
OMIM:611762 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Edema, BCGosis, ... |
OMIM:619644 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Chronic ... |
ORPHA:33355 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Edema |
OMIM:154800 |
Indolent Systemic Mastocytosis |
|
Skin rash, Maculopapular exanthema, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Peripheral edema, Pulmonary edema |
ORPHA:75249 |
Japanese Encephalitis |
|
Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating antibody level, ... |
ORPHA:79139 |
H Syndrome |
|
Psoriasiform dermatitis, Microcytic anemia, Bronchiectasis, Hepatosplenomegaly, Chronic rhinitis,... |
ORPHA:168569 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis |
ORPHA:458803 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Hellp Syndrome |
|
Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Microan... |
ORPHA:244242 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Increased m... |
OMIM:619774 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Blepharitis |
ORPHA:294023 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema |
ORPHA:64739 |
Dracunculiasis |
|
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Arthritis |
ORPHA:231 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, C... |
ORPHA:98813 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Mening... |
OMIM:607115 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... |
OMIM:608233 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... |
OMIM:258360 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Abnormality of ... |
ORPHA:543 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
Poikiloderma With Neutropenia |
|
Skin rash, Edema, Recurrent bronchopulmonary infections, Splenomegaly, Recurrent pneumonia, Leuko... |
OMIM:604173 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:602450 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves... |
ORPHA:330058 |
Pneumocystosis |
|
Multiple pulmonary cysts, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infe... |
ORPHA:723 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Conjunctiv... |
ORPHA:3392 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Mem... |
ORPHA:49041 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Neutropenia... |
OMIM:617827 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Edema, Leukocytosis, Peritonitis, Neutropenia, Ascites, Thrombocytopenia |
ORPHA:391673 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Hepato... |
OMIM:612541 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Neutropenia |
OMIM:620012 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent skin infections, Splenomegaly, Decreased circulating total IgM, Leukopenia... |
OMIM:620210 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Glomerulonephritis, Pneumonia, Thrombocytopeni... |
ORPHA:340 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... |
OMIM:615607 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... |
ORPHA:90051 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Propionic Acidemia |
|
Pancytopenia, Eczema, Thrombocytopenia, Dehydration, Neutropenia, Pancreatitis, Anemia |
OMIM:606054 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration, Tubulointerstitial nephritis, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal... |
ORPHA:436252 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Polyhydramnios, Recurrent infections, Increased mean corpuscular volume, Esoph... |
OMIM:612562 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Diffuse alveolar hemorrhage, Chronic infection, Thrombocytopenia, Leukocytosis, Leu... |
ORPHA:520 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Recurrent infec... |
OMIM:302060 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop... |
ORPHA:398124 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytos... |
ORPHA:3226 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia |
OMIM:246400 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Thrombocytopenia, Recurr... |
OMIM:617303 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... |
ORPHA:508542 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia, Bronchiectasis, Aspiration pneumonia, Oligohydramnios |
OMIM:618253 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Panniculitis, Cystic acne, Acne inversa, Anemia |
OMIM:608068 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Trichothiodystrophy 3, Photosensitive |
|
Recurrent infections, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... |
OMIM:301074 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Myocarditis, Recurrent pharyngitis, Leukocytosis, Splenome... |
ORPHA:829 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema |
OMIM:105210 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:2584 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hepatosplenomegaly, Membranous nephr... |
OMIM:618999 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash, An... |
OMIM:620321 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Absent isohemagglutinin level, R... |
OMIM:615468 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Cirrhotic Cardiomyopathy |
|
Peripheral edema, Ascites, Pulmonary edema |
ORPHA:57777 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pericardial effusion, Ascites, Pulmonary edema |
OMIM:115197 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Recurrent pneumonia, Dehydration, Recurrent infections, Leukopenia, Neutropenia, ... |
OMIM:616271 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati... |
ORPHA:391487 |
Wells Syndrome |
|
Eosinophilia, Edema |
ORPHA:901 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Chilblains, Thrombocytopenia |
OMIM:615010 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Leukocytosis, Pneumothorax, Severe infection, Sepsis, Acute infectious p... |
ORPHA:36238 |
Omenn Syndrome |
|
Pneumonia, Edema, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Erythroderma, Ab... |
ORPHA:39041 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM... |
OMIM:617099 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... |
OMIM:619858 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Ulerythema Ophryogenesis |
|
Acne, Contact dermatitis |
ORPHA:3406 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B ce... |
ORPHA:3261 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... |
OMIM:242900 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Megaloblastic anemia, Recurrent infections, Neutropenia, Stomatitis |
ORPHA:79284 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Thrombocytopenia |
OMIM:614171 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Recurrent infections, Neutropeni... |
OMIM:277380 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Abnormality... |
ORPHA:314478 |
Elastoderma |
|
Erysipelas, Eczema |
ORPHA:228240 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Ogden Syndrome |
|
Pulmonary edema, Eczema, Lymphedema, Thrombocytopenia, Pulmonary artery stenosis, Recurrent infec... |
OMIM:300855 |
Wolcott-Rallison Syndrome |
|
Dehydration, Recurrent infections, Iron deficiency anemia, Lymphocytosis, Neutropenia, Ascites |
ORPHA:1667 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis |
OMIM:612567 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema |
OMIM:261740 |
Roifman Syndrome |
|
Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... |
ORPHA:353298 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Minimal change glomerulonephritis, Thrombocytopenia, Recurrent infectio... |
ORPHA:1830 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Joint swel... |
OMIM:607944 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Edema, Severe varicella zoster infection, Increased circulating m... |
ORPHA:36234 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Recurrent viral i... |
OMIM:242840 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Pulmonary fibrosis, Bone marrow hypocellularity, Neutr... |
OMIM:613989 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypersensitivity pneumonitis, Increased circulating IgE level, Leukocytosis, Atopic ... |
ORPHA:2902 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Neutr... |
OMIM:617050 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephrit... |
ORPHA:139402 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis |
OMIM:613412 |
Ethylene Glycol Poisoning |
|
Gastritis, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule... |
ORPHA:77297 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Gait ataxia, Hypoplasia of the uterus, Hypoplasia of th... |
OMIM:615300 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Neutropenia, Nephri... |
ORPHA:73263 |
Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
Chilblain Lupus 1 |
|
Chilblains |
OMIM:610448 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash, Thin skin |
ORPHA:1658 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Anemia |
OMIM:251110 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hydrops fetalis, Dehydra... |
OMIM:557000 |
Porphyria Cutanea Tarda, Type I |
|
Eczema |
OMIM:176090 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Edema, Eosinophilia, Leukocytosis, Atopic dermatitis, Ascites, Anemia |
ORPHA:2070 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pedal edema, Pulmonary hyp... |
ORPHA:980 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Hemolytic anemia, Eczema |
OMIM:177000 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Increased circulating IgM level, ... |
ORPHA:448237 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia |
OMIM:616069 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Leukopenia, Increased circul... |
ORPHA:83313 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Skin rash, Increased circulating IgA level, Pustule, Increased circulating... |
OMIM:615934 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In... |
ORPHA:2314 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Arthritis, Panniculitis, Conjunct... |
OMIM:617591 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Recurrent infect... |
OMIM:617052 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Hepatospleno... |
OMIM:612840 |
Cocaine Intoxication |
|
Glomerulonephritis, Diffuse alveolar hemorrhage, Pneumothorax, Tubulointerstitial nephritis, Coli... |
ORPHA:90068 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis |
ORPHA:69085 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Pneumonia, Eczema, Splenomegaly, Peritonit... |
OMIM:619991 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell count, ... |
OMIM:616050 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczema, Microcytic anemia |
ORPHA:79278 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Thrombocytopenia |
OMIM:619751 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Recurrent infections, Persistence of hemoglobin F, Anemia, ... |
OMIM:260400 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Uremic Pruritus |
|
Recurrent skin infections, Inflammatory abnormality of the skin, Abnormality of serum cytokine le... |
ORPHA:94059 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Eosinophilia |
OMIM:253600 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Recurrent lower respiratory tract infections, Polyhydramnios, Neutropenia |
OMIM:618005 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Abnormal pleura morphology, Thrombocytopenia, Sepsis, Conjuncti... |
ORPHA:537 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Skin rash |
OMIM:105200 |
Roifman Syndrome |
|
Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Recurrent otitis media |
OMIM:616651 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis |
ORPHA:2237 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Anemia |
OMIM:251100 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... |
OMIM:617388 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Anemia |
ORPHA:54251 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Invasive parasitic infection, Abscess, Eosinophilia, Un... |
ORPHA:400 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Recurrent infections, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Palpebral edema, Pustule, Myocarditis, Thrombocytopenia, Splenomegaly, Abnormal pulmon... |
ORPHA:50918 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Neutrope... |
OMIM:232220 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiect... |
ORPHA:169105 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Joint swelling, Pulmonary... |
OMIM:612852 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, Increased mea... |
ORPHA:33364 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Scorpion Envenomation |
|
Myocarditis, Acute pancreatitis, Edema, Pulmonary edema |
ORPHA:466677 |
Cortisone Reductase Deficiency 1 |
|
Acne |
OMIM:604931 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Depression, Ovarian cyst, Agitation, Mental deterioration, Emotional lability, Pancreatitis |
OMIM:610475 |
Generalized Pustular Psoriasis |
|
Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp... |
ORPHA:247353 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis... |
ORPHA:171 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma... |
ORPHA:3384 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Recurrent infections, Neutropenia |
OMIM:615471 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Erysipelas |
OMIM:214900 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Prolidase Deficiency |
|
Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, In... |
OMIM:170100 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
Blue Rubber Bleb Nevus |
|
Skin rash, Microcytic anemia |
ORPHA:1059 |
Familial Benign Copper Deficiency |
|
Acne, Anemia |
ORPHA:1551 |
Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Pruritus, Pruritus on foot, Abnormal circulating interleukin concentration, Cholecysti... |
ORPHA:69665 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... |
ORPHA:398063 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema |
ORPHA:137675 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... |
ORPHA:449400 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Meningitis, Arthri... |
OMIM:249100 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Pulmonary edema |
ORPHA:73224 |
Dermatitis Herpetiformis |
|
Pruritus, Eczema, Microcytic anemia |
ORPHA:1656 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis |
ORPHA:85414 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:619151 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Edema, Periorbita... |
ORPHA:221 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... |
ORPHA:74 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Ataxia, Biliary tract abnormality, Hepatic fibrosis, Gait imbalance, H... |
OMIM:209900 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... |
ORPHA:163956 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Erythroderma, Lymphopenia |
OMIM:617425 |
Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production |
OMIM:612714 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227645 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczema, Thrombocytopenia, Keratoconjunctivitis |
ORPHA:79242 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inf... |
OMIM:232240 |
Cutaneous Collagenous Vasculopathy |
|
Pruritus, Skin rash |
ORPHA:280779 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Hypersplenism, Hepatitis, Thyroiditis, Hepatosplenomegaly, Neutropenia... |
ORPHA:228426 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Nonimmune hydrops fetalis, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Skin rash, Facial edema, Neutropenia, Leukemia, Malar rash, Anemia |
ORPHA:2909 |
Leigh Syndrome |
|
Severe viral infection, Eczema, Anemia, Neutropenia |
ORPHA:506 |
Dengue Fever |
|
Pruritus, Leukopenia, Skin rash, Thrombocytopenia |
ORPHA:99828 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Leukopenia, Microangiopathic hem... |
ORPHA:93552 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Decreased circulat... |
OMIM:615688 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas |
OMIM:142680 |
Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Neutrophilia, Severe periodontitis, Palpebral edema, Recurrent ur... |
ORPHA:99843 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thro... |
ORPHA:525731 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Pneumonia... |
ORPHA:228123 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Bronchiectasis,... |
OMIM:619381 |
Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... |
ORPHA:634 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Hydrops fetalis, Dehydration, Neutropenia, Stomatitis, Thrombocytopenia |
ORPHA:79282 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Recurrent bacterial in... |
ORPHA:79259 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Severe infection, Hydrops fetalis,... |
ORPHA:699 |
Tako-Tsubo Cardiomyopathy |
|
Pulmonary edema |
ORPHA:66529 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Inflammation of the large intesti... |
OMIM:617718 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Abn... |
ORPHA:2035 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh... |
ORPHA:183 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder |
OMIM:617914 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Blepharitis, Eczema |
OMIM:618535 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Pneumothorax |
ORPHA:1302 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Chronic Granulomatous Disease |
|
Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Otitis media, Inflamm... |
ORPHA:379 |
Pseudopelade Of Brocq |
|
Recurrent skin infections, Cheilitis |
ORPHA:129 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227646 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
B4Galt1-Cdg |
|
Splenomegaly, Inflammatory abnormality of the skin |
ORPHA:79332 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash |
ORPHA:90036 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Pulmonary edema |
OMIM:220111 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Facial edema, Periorbital edema, Inc... |
ORPHA:449432 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia, Cerebral edema |
ORPHA:1930 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... |
ORPHA:678 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ... |
ORPHA:32960 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Facial edema, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... |
ORPHA:449427 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Eczema, Neutropenia |
OMIM:617799 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Inflammation of the large intestine, Thin skin... |
OMIM:615895 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... |
ORPHA:168558 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Absce... |
ORPHA:125 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Neutrophilia, Angioedema, Leukocytosis, Chronic hepatitis, Hepatosplenomega... |
ORPHA:3260 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... |
ORPHA:289548 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Cartilage-Hair Hypoplasia |
|
Neutropenia, Anemia, Decreased circulating antibody level |
ORPHA:175 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Facial edema, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Hermansky-Pudlak Syndrome |
|
Pulmonary fibrosis, Neutropenia |
ORPHA:79430 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Pedal edema, Tubulointerstitial nephritis, Increased cir... |
ORPHA:449395 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Xerostom... |
ORPHA:95455 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Liver abscess, Cholangitis, Eosinophilia, Pedal edema, Abnormal spleen morphology... |
ORPHA:284 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratiti... |
ORPHA:449563 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
Hyperzincemia With Functional Zinc Depletion |
|
Skin rash |
OMIM:601979 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis |
OMIM:253260 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Loeffler Endocarditis |
|
Pericarditis, Eosinophilia |
ORPHA:75566 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia |
ORPHA:2135 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Pedal edema |
OMIM:617107 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Vacuolated lymphocytes, Acne, Neutropenia |
OMIM:208400 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia... |
OMIM:614527 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Sepsis, Hashimoto thyroiditis |
ORPHA:199299 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... |
OMIM:186580 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis |
OMIM:167100 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... |
ORPHA:95699 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ... |
OMIM:137920 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Inflammatory abnormality of the skin, Vacuolated lymphocytes, Pancreatitis |
ORPHA:565612 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Attention deficit hyperactivity disorder |
OMIM:614083 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cheilitis, Arthritis, Conjunctivit... |
ORPHA:2331 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation |
ORPHA:556 |
Cushing Disease |
|
Acne, Leukocytosis, Recurrent cutaneous fungal infections, Pedal edema, Decreased eosinophil coun... |
ORPHA:96253 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Ne... |
ORPHA:99827 |
Sponastrime Dysplasia |
|
Recurrent pneumonia, Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopen... |
ORPHA:797 |
Chronic Mucocutaneous Candidiasis |
|
Pruritus, Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Increased circulating gonadotropin level, Biliary cirrhosis, Depre... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Increased circulating gonadotropin level, Biliary cirrhosis, Depre... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Increased circulating gonadotropin level, Biliary cirrhosis, Depre... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Increased circulating gonadotropin level, Biliary cirrhosis, Depre... |
ORPHA:99226 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, L... |
ORPHA:99829 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... |
OMIM:618280 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin |
OMIM:610768 |
Reynolds Syndrome |
|
Pruritus, Splenomegaly, Lymphopenia, Erythema nodosum |
OMIM:613471 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Eosinophilia, Edema of the dorsum of hands, Seborrheic dermatitis, T... |
OMIM:274000 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypop... |
OMIM:618419 |
Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Uveitis, Infectious encephalitis |
ORPHA:464 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis |
OMIM:308300 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Apl... |
OMIM:194190 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Small cell lung carcinoma, Leukocytosis, Recurrent cutaneous fungal infections, Pedal edema... |
ORPHA:99889 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
Coffin-Siris Syndrome 1 |
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Hypospadias, Aggressive behavior, Cryptorchidism, Gait ataxia, Compulsive behaviors, Aplasia of t... |
OMIM:135900 |
Norrie Disease |
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Cryptorchidism, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, ... |
ORPHA:649 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology |
OMIM:236680 |
Tropical Endomyocardial Fibrosis |
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Increased circulating interleukin 6 concentration, Eosinophilia, Splenomegaly, Pedal edema, Perip... |
ORPHA:75565 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Okamoto Syndrome |
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Splenomegaly, Bifid uterus |
ORPHA:2729 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
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Cryptorchidism, Bifid uterus |
OMIM:256520 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Cryptorchidism, Cystocele, Cognitive impairment, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Pallister-Killian Syndrome |
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Small scrotum, Hypospadias, Supernumerary nipple, Inability to walk, Cryptorchidism, Hypoplastic ... |
OMIM:601803 |
Pmm2-Cdg |
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Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Aspiration pneumonia, Impaired neutroph... |
ORPHA:79318 |