Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Thrombocytosis, Failure to thrive, Anemia |
OMIM:615934 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Weight loss |
ORPHA:100024 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Anemia |
ORPHA:33355 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss |
ORPHA:79238 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive |
OMIM:212750 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Weight loss |
ORPHA:134 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia |
OMIM:226300 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... |
OMIM:301074 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Weight loss, Leukopenia, Thrombocytosis, Anemia |
ORPHA:20 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:86893 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia, Weight loss |
ORPHA:2905 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... |
ORPHA:507 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Failure to thrive, Anemia |
OMIM:615486 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Rhabdoid Tumor |
|
Thrombocytopenia, Anemia, Weight loss |
ORPHA:69077 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Failure to thrive |
OMIM:212065 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Thrombocytosis, Failure ... |
OMIM:222470 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia |
OMIM:618213 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:545 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... |
ORPHA:98850 |
Brucellosis |
|
Small for gestational age, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Weight lo... |
ORPHA:1304 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Lymphop... |
OMIM:615688 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Syndromic Diarrhea |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus... |
ORPHA:84064 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:42642 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Wilson Disease |
|
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia |
ORPHA:905 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
X-Linked Agammaglobulinemia |
|
Weight loss, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:47 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Majeed Syndrome |
|
Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic anemi... |
ORPHA:77297 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Anemia, Weight loss |
ORPHA:83469 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Weight loss |
ORPHA:2070 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Wolman Disease |
|
Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells |
ORPHA:75233 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Weight loss |
ORPHA:79242 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Felty Syndrome |
|
Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Anemia, Weight loss |
ORPHA:298 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Anemia, Weight loss |
ORPHA:54251 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:391 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Weight loss |
ORPHA:33276 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia |
ORPHA:93941 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Anemia |
ORPHA:2930 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss |
ORPHA:324964 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Weight loss |
ORPHA:188 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss |
ORPHA:449400 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4... |
ORPHA:90362 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Weight loss |
ORPHA:33577 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Pyomyositis |
|
Leukocytosis, Weight loss |
ORPHA:764 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Anemia, Weight loss |
ORPHA:67 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss |
ORPHA:160 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Aredyld Syndrome |
|
Splenomegaly, Cachexia |
ORPHA:1133 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Weight loss |
ORPHA:139402 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Weight loss, Hepatosplenomegaly, Failure to thrive, Anemia |
OMIM:619487 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Anemia, Weight loss |
OMIM:619377 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Gm1 Gangliosidosis |
|
Weight loss, Splenomegaly, Failure to thrive, Hepatosplenomegaly |
ORPHA:354 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anemia |
OMIM:175500 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Weight loss, Failure to thrive |
ORPHA:199299 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Budd-Chiari Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:131 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Peripheral Primitive Neuroectodermal Tumor |
|
Anemia, Weight loss |
ORPHA:370348 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss |
ORPHA:36426 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss, Anemia, Hepatosplenomegaly |
ORPHA:85450 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased body weight... |
ORPHA:2298 |
Cystic Echinococcosis |
|
Weight loss, Eosinophilia, Splenic cyst |
ORPHA:400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Weight loss |
ORPHA:465508 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Weight loss, Anemia, Neutropenia |
ORPHA:537 |
Q Fever |
|
Splenomegaly, Weight loss, Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:781 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Malt Lymphoma |
|
Anemia, Weight loss |
ORPHA:52417 |
Al Amyloidosis |
|
Howell-Jolly bodies, Anemia, Weight loss |
ORPHA:85443 |
Polycythemia Vera |
|
Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Weight loss |
ORPHA:183 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Hepatosplenomegaly, Weig... |
ORPHA:275761 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
Whipple Disease |
|
Splenomegaly, Cachexia, Anemia |
ORPHA:3452 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Giant Cell Arteritis |
|
Abnormality of thrombocytes, Weight loss |
ORPHA:397 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Alveolar Echinococcosis |
|
Abnormal spleen morphology, Eosinophilia, Anemia, Weight loss |
ORPHA:284 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Splenome... |
OMIM:614162 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Thrombocytopenia |
OMIM:615846 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Caroli Disease |
|
Splenomegaly, Leukocytosis, Weight loss |
ORPHA:53035 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Weight loss |
ORPHA:100075 |
Multiple Myeloma |
|
Splenomegaly, Anemia, Weight loss |
ORPHA:29073 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Weight loss |
ORPHA:309031 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Weight loss |
ORPHA:95409 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Simple Cryoglobulinemia |
|
Weight loss, Chronic lymphatic leukemia |
ORPHA:91139 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Abnormality of thrombocytes, Neutropenia |
ORPHA:79430 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
Kikuchi-Fujimoto Disease |
|
Splenomegaly, Weight loss, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Weight loss |
ORPHA:49041 |
Erdheim-Chester Disease |
|
Anemia, Weight loss |
ORPHA:35687 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia |
ORPHA:647 |
Rat-Bite Fever |
|
Anemia, Weight loss |
ORPHA:31205 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Familial Pancreatic Carcinoma |
|
Weight loss, Hepatosplenomegaly |
ORPHA:1333 |
Lynch Syndrome |
|
Weight loss |
ORPHA:144 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Weight loss |
ORPHA:100078 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
Addison Disease |
|
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Failure to thrive, Weight loss |
ORPHA:85138 |
Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Anemia |
ORPHA:84 |
Microsporidiosis |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Cachexia, Weight ... |
ORPHA:2552 |
Mucolipidosis Type Ii |
|
Splenomegaly, Weight loss, Hepatosplenomegaly |
ORPHA:576 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Weight loss, Hepatosplenomegaly, Histiocytosis |
ORPHA:171 |
Glucagonoma |
|
Normochromic anemia, Weight loss, Acanthocytosis |
ORPHA:97280 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Anemia |
ORPHA:79076 |
Somatostatinoma |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:97283 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thro... |
ORPHA:2072 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Vipoma |
|
Normochromic anemia, Weight loss |
ORPHA:97282 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia, Weight loss |
ORPHA:79078 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto... |
OMIM:619381 |
Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Camurati-Engelmann Disease |
|
Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia |
ORPHA:1328 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
ORPHA:900 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Schwartz-Jampel Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:800 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Weight loss, Anemia, Leukopenia, Thromboc... |
ORPHA:797 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Pancytopenia, Weight loss |
OMIM:181000 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Cystinosis, Nephropathic |
|
Splenomegaly, Failure to thrive in infancy, Weight loss |
OMIM:219800 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Behçet Disease |
|
Splenomegaly, Weight loss |
ORPHA:117 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Weight loss |
ORPHA:91500 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Choreoacanthocytosis |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss, Acanthocytosis |
ORPHA:2388 |
Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Decreased e... |
ORPHA:99889 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Weight loss |
ORPHA:449395 |
Cockayne Syndrome |
|
Splenomegaly, Cachexia |
ORPHA:191 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Weight loss |
ORPHA:99921 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Goodpasture Syndrome |
|
Anemia, Weight loss |
OMIM:233450 |
African Trypanosomiasis |
|
Splenomegaly, Weight loss, Hepatosplenomegaly |
ORPHA:3385 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Proteus Syndrome |
|
Splenomegaly, Thymus hyperplasia, Cachexia |
ORPHA:744 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Cachexia |
ORPHA:75565 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Thiopurines, Poor Metabolism Of, 1 |
|
|
OMIM:610460 |