Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Edema |
OMIM:154800 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema |
OMIM:223350 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Edema, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocyt... |
OMIM:603552 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Edema, Pedal edema |
OMIM:152800 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Edema, Arthritis, Muscular edema |
ORPHA:3165 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis |
OMIM:260570 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Wells Syndrome |
|
Eosinophilia, Edema |
ORPHA:901 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Eczema, Edema |
OMIM:177000 |
Sea-Blue Histiocytosis |
|
Edema, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia |
ORPHA:158029 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Edema, Microcytic anemia |
ORPHA:79278 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Edem... |
ORPHA:167 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Spl... |
ORPHA:3202 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... |
OMIM:616843 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia |
ORPHA:2135 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia |
OMIM:603041 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |