| Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
| Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
| Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Increased nuchal translucency, Ascites |
ORPHA:295 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice |
ORPHA:79238 |
| Chylous Ascites |
|
Lymphedema, Ascites |
ORPHA:1160 |
| Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
| Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Immunodeficiency 7 |
|
Failure to thrive, Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
| Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
| Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hydrops fetalis, Hepatomegaly, Ascites |
OMIM:619433 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
| Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice |
OMIM:234350 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
| Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities |
|
Hepatosplenomegaly, Ascites |
OMIM:600461 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
| Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Reticular Dysgenesis |
|
Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Aplasia/Hypoplasia of the... |
ORPHA:33355 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites |
OMIM:174050 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Eosinophilia |
OMIM:248100 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss, Abnormal eosinophil morphology |
ORPHA:1164 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... |
OMIM:618987 |
| Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Elevated hepatic transami... |
ORPHA:507 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Weight loss, Abnormal eosinophil morphology |
ORPHA:3165 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Splenoportal Vascular Anomalies |
|
Ascites, Splenomegaly |
OMIM:271500 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Immunodeficiency 54 |
|
Intrauterine growth retardation, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomeg... |
OMIM:609981 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
| Hepatic Veno-Occlusive Disease |
|
Ascites, Hepatomegaly |
ORPHA:890 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno... |
ORPHA:545 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Ascites |
ORPHA:2123 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:2414 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomega... |
OMIM:618999 |
| Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatospl... |
OMIM:619644 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology |
ORPHA:482 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Hepatomegaly, Cachexia, Short stature |
ORPHA:2576 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly |
ORPHA:1046 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss, Lymphadenopathy |
ORPHA:70482 |
| Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Hepatomegaly |
ORPHA:2198 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
| Hypervitaminosis A, Susceptibility To |
|
Ascites |
OMIM:240150 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
| Wolman Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cachexia, Growth delay, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
| Pfapa Syndrome |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
| Alpha-Heavy Chain Disease |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
| Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... |
OMIM:602450 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... |
ORPHA:905 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
| Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... |
ORPHA:98850 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... |
ORPHA:1041 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Micrognathia, Small hand, Clinodactyly, Short foot, Hyperch... |
ORPHA:254531 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... |
OMIM:607143 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Hepatomegaly |
OMIM:301045 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Micrognathia, Small hand, Hypertriglyceridemia, Clinodactyl... |
OMIM:616222 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Failure to thrive, Cryptorchidism, Monocytosis |
OMIM:610680 |
| Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... |
ORPHA:824 |
| Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, ... |
ORPHA:83469 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Hemophagocytosis |
ORPHA:86884 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Ascites |
OMIM:232500 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Malignant Peritoneal Mesothelioma |
|
Pedal edema, Ascites |
ORPHA:168811 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Growth delay, Anemia, Lymphadenopathy |
OMIM:607115 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Pes cavus, Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus |
OMIM:612526 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Edema |
OMIM:611719 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Ascites |
OMIM:617156 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Secondary Intestinal Lymphangiectasia |
|
Chylous ascites, Intestinal lymphedema, Lymphedema, Anasarca, Pleural effusion, Edema |
ORPHA:90363 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Abnormal circulating creatine kinase concentration, Progressive pe... |
ORPHA:488650 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenome... |
ORPHA:331206 |
| Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... |
OMIM:251230 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormality of the peritoneum |
ORPHA:2023 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
| Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia |
OMIM:610247 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Anemia, Weight loss, Thrombocytopenia, Lymphadenopathy |
ORPHA:69077 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
| Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... |
ORPHA:400 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly |
OMIM:269920 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Short stature, Abnormality of the lymphatic system, Abnormality of the tonsils... |
ORPHA:47 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Weight loss, Lymphadenopathy |
ORPHA:391 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess |
ORPHA:100083 |
| Ovarian Fibroma |
|
Ascites, Pleural effusion |
ORPHA:314473 |
| Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
| Cyclic Neutropenia |
|
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neutropenia, Pe... |
ORPHA:2686 |
| Slc35A2-Cdg |
|
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... |
ORPHA:356961 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... |
OMIM:308240 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Failure to thrive secondary to recurren... |
ORPHA:169160 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
| Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... |
OMIM:613027 |
| Pseudomyxoma Peritonei |
|
Ascites |
ORPHA:26790 |
| Laron Syndrome |
|
Short toe, Micrognathia, Brachydactyly, Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
| Majeed Syndrome |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cache... |
ORPHA:77297 |
| Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
| Congenital Toxoplasmosis |
|
Ascites, Hepatomegaly |
ORPHA:858 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
| Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo... |
ORPHA:39041 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Bone marrow... |
ORPHA:47612 |
| Free Sialic Acid Storage Disease |
|
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:834 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
| Femoral-Facial Syndrome |
|
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short femur, Micrognathia, Mater... |
ORPHA:1988 |
| Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Short stature, Eosinophilia, Postnatal growth retardation, Lymphadeno... |
OMIM:616651 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Broad hallux phalanx, Preaxial hand polydactyly, 1-3 toe syndactyly, Broad ... |
OMIM:175700 |
| Chronic Beryllium Disease |
|
Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegal... |
ORPHA:911 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial effusion |
OMIM:608776 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pes cavus, Distal lower limb muscle weakness, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
| Kaposi Sarcoma |
|
Generalized lymphadenopathy, Weight loss, Abnormality of the spleen, Abnormality of the liver |
ORPHA:33276 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
| Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth |
OMIM:236640 |
| Neuraminidase Deficiency |
|
Facial edema, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:256550 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Cryptorchidism, Hepatomegaly, Splenomegaly, Hypoplasia of the thy... |
OMIM:612541 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Mild postnatal growth... |
OMIM:224120 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Anemia, Weight loss, Leukocytosis |
ORPHA:2070 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Ascites, Hepatomegaly, Splenomegaly |
OMIM:619463 |
| Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... |
OMIM:616843 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
| Roifman Syndrome |
|
Short stature, Eosinophilia, Hepatosplenomegaly, Postnatal growth retardation, Lymphadenopathy, I... |
ORPHA:353298 |
| Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hepatomegaly, Rhizomelia, Weight loss, Severe short-limb dwarfism, Anemia |
ORPHA:1842 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
| Familial Atrial Myxoma |
|
Pedal edema, Ascites |
ORPHA:615 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Lymphadenopathy |
OMIM:617718 |
| Refractory Celiac Disease |
|
Increased proportion of HLA DR+ T cells, Normocytic anemia, Iron deficiency anemia, Macrocytic an... |
ORPHA:398063 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial polydactyly, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Postax... |
OMIM:615986 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Acute hepatic failure, Eosinophilia, Elevated hepatic transaminase, Hepatitis, Wei... |
ORPHA:139402 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
| Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... |
ORPHA:314795 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... |
OMIM:304790 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss, Neutrophilia, Leukocytosis |
ORPHA:1302 |
| Mulibrey Nanism |
|
Hydrops fetalis, Hepatomegaly, Ascites |
OMIM:253250 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of mesentery morphology, Cachexia, Abnormality of the spleen |
ORPHA:93941 |
| Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Ascites, Hepatomegaly, Splenomegaly |
OMIM:615122 |
| Klippel-Trénaunay Syndrome |
|
Ascites, Hydrops fetalis, Hepatomegaly, Edema |
ORPHA:90308 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... |
OMIM:615190 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
| Tempi Syndrome |
|
Transudative pleural effusion, Ascites |
ORPHA:284227 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Lymphopenia, Abnormal lymphatic vessel morphology, Reduced proportion of CD4... |
ORPHA:90362 |
| Immunodeficiency 55 |
|
Lymphopenia, Short stature, Absent natural killer cells, Neutropenia, Postnatal growth retardatio... |
OMIM:617827 |
| Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Jaundice |
ORPHA:99978 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
| Pleural Mesothelioma |
|
Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... |
OMIM:242700 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia, Lymph... |
ORPHA:520 |
| Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Peripheral edema, Pleural effusion, Generalized edema, Ascites |
ORPHA:64739 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Short clavicles, Hyperinsulinemia, Micrognathia, Acroosteolysis of distal ph... |
ORPHA:2457 |
| Familial Pancreatic Carcinoma |
|
Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic cholestasis, Hepatosplenom... |
ORPHA:1333 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... |
ORPHA:288 |
| Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Ascites, Oligohydramnios, Hepatomegaly, Edema |
OMIM:608104 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Gr... |
OMIM:617388 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Short clavicles, Type II diabetes mellitus, Small hand, Tapered finger, Hypercholesterolemia |
ORPHA:401923 |
| Hemochromatosis, Type 1 |
|
Ascites, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:235200 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Micrognathia, Small hand, Clinodactyly, Short foot, Hyperch... |
ORPHA:96184 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Decreased testicular size, Post... |
OMIM:610198 |
| Alveolar Echinococcosis |
|
Cutaneous abscess, Decreased liver function, Pancreatic cysts, Abnormal spleen morphology, Eosino... |
ORPHA:284 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hepatic fail... |
ORPHA:79303 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Immunodeficiency 92 |
|
Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopenia, Thrombocyto... |
OMIM:619652 |
| X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
| Ovarian Fibrothecoma |
|
Ascites, Pleural effusion |
ORPHA:314478 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Weight loss... |
ORPHA:298 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Nonimmune hydrops fetalis, Pleural effusion |
OMIM:617049 |
| Mirage Syndrome |
|
Decreased body weight, Lymphopenia, Cryptorchidism, Short stature, Leukopenia, Hypoplastic spleen... |
OMIM:617053 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Elevated hepatic transaminase, Weight loss, Anemia, Lung abscess, Liver abscess |
ORPHA:67 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss, Hepatomegaly, Splenomegaly |
ORPHA:33577 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Generalized edema, Ascites, Hepatomegaly, Edema |
OMIM:226300 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Pheochromocytoma, Nodular goiter, Weight loss, Lymphadenopathy, Abno... |
ORPHA:1332 |
| Aredyld Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Cachexia, Intrauterine growth retardation |
ORPHA:1133 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... |
OMIM:307800 |
| Griscelli Syndrome |
|
Pedal edema, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:381 |
| Omodysplasia 1 |
|
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... |
OMIM:258315 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Pyomyositis |
|
Testicular teratoma, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Ascites |
ORPHA:367 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Asplenia, Short stature |
OMIM:602361 |
| Niemann-Pick Disease, Type A |
|
Ascites, Hepatomegaly, Splenomegaly |
OMIM:257200 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Angioedema, Pleural effusion, Ascites, Pericardial effusion |
ORPHA:36412 |
| Galactosemia |
|
Ascites, Hepatomegaly |
ORPHA:352 |
| Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Acute hepa... |
ORPHA:1667 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia, Short stature |
OMIM:270300 |
| Moynahan Syndrome |
|
Cachexia, Short stature |
ORPHA:2574 |
| Systemic Capillary Leak Syndrome |
|
Weight loss, Pancreatitis, Leukocytosis |
ORPHA:188 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
| Classic Galactosemia |
|
Ascites, Hepatomegaly |
ORPHA:79239 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Pleural effusion, Hydrops fetalis, Ascites |
OMIM:616897 |
| Holocarboxylase Synthetase Deficiency |
|
Growth delay, Weight loss, Thrombocytopenia |
ORPHA:79242 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Short clavicles, Hyperinsulinemia, Hyperlipidemia, Micrognathia, ... |
OMIM:248370 |
| Alg8-Cdg |
|
Oligohydramnios, Hydrops fetalis, Ascites, Edema |
ORPHA:79325 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss, Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:90060 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Acute myeloid leukemia |
ORPHA:71493 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hepatic fibrosis, ... |
OMIM:619377 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypoglycemia, Hyper... |
ORPHA:79237 |
| Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Short clavicles, Hyperlipidemia, Hyperinsulinemia, Micrognathia, Acroosteoly... |
OMIM:608612 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Severe B lymph... |
OMIM:102700 |
| Erythrokeratodermia Variabilis |
|
Weight loss, Abnormal testis morphology, Short stature |
ORPHA:317 |
| Pgm3-Cdg |
|
Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... |
ORPHA:443811 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:2930 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
| Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia... |
OMIM:616730 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... |
ORPHA:79456 |
| Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Hemolytic a... |
OMIM:619487 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Growth delay, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural ... |
OMIM:243700 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Facial edema, Palpebral edema, Pedal edema, Anasarca, Edema, Pleural effusion, Ascites |
ORPHA:567546 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Mucopolysaccharidosis Type 7 |
|
Hydrops fetalis, Lymphedema, Ascites, Splenomegaly |
ORPHA:584 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparathyroidism, Chronic noninfectiou... |
ORPHA:97289 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Increased C-peptide level, Long foot, Hypertriglyceridemia, Large hands, Diabet... |
ORPHA:528 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... |
OMIM:263520 |
| Dengue Fever |
|
Ascites, Hepatomegaly |
ORPHA:99828 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Failure to thrive, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... |
OMIM:617925 |
| Nephroblastoma |
|
Weight loss, Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
| Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
| Pseudo-Torch Syndrome 2 |
|
Ascites, Hepatomegaly, Pleural effusion |
OMIM:617397 |
| Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... |
ORPHA:2298 |
| Reynolds Syndrome |
|
Xerostomia, Ascites, Hepatomegaly |
ORPHA:779 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... |
ORPHA:465508 |
| Igg4-Related Aortitis |
|
Weight loss, Hypereosinophilia |
ORPHA:449400 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Polycythemia Vera |
|
Hepatomegaly, Splenomegaly, Portal hypertension, Weight loss, Acute leukemia |
ORPHA:729 |
| Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
| Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Ascites, Hepatomegaly, Splenomegaly |
OMIM:251880 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
| Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion |
OMIM:618183 |
| Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Vacuolated lymphoc... |
ORPHA:275761 |
