| Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
| Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Hydrops fetalis |
OMIM:619433 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... |
ORPHA:33355 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric... |
OMIM:209950 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites |
OMIM:174050 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Splenoportal Vascular Anomalies |
|
Splenomegaly, Ascites |
OMIM:271500 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites |
ORPHA:2414 |
| Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... |
OMIM:609981 |
| Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Ascites, Edema |
OMIM:603278 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites |
ORPHA:890 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,... |
ORPHA:3226 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly |
ORPHA:2576 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites |
ORPHA:2198 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomegaly, Failure to thri... |
OMIM:618999 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios |
ORPHA:1046 |
| Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Ascites, Hydrops fetalis, Polyhydramnios |
ORPHA:2123 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg... |
OMIM:619644 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:100025 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
| Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia |
ORPHA:75233 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Pleural effusion, As... |
ORPHA:1041 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:42642 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Micrognathia, Small hand, Short foot, Hypercholesterolemia,... |
ORPHA:254531 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... |
OMIM:602450 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
| Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... |
ORPHA:169154 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Weight loss, He... |
ORPHA:98850 |
| Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites |
OMIM:301045 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Splenome... |
ORPHA:824 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia of the radius, Short... |
OMIM:607143 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Anasarca, Pleural effusion |
ORPHA:90363 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Growth delay, Hepatosplenomegaly, Anemia |
OMIM:607115 |
| Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Ascites |
OMIM:232500 |
| Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema |
ORPHA:168811 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Short st... |
OMIM:613673 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lympho... |
ORPHA:331206 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Abnormal circulating creatine kinase concent... |
ORPHA:488650 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Pleural effusion, Ascites, Oligohydramnios |
OMIM:614702 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
| Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia |
OMIM:610247 |
| Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
| Rhabdoid Tumor |
|
Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocytopenia |
ORPHA:69077 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... |
ORPHA:356961 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis |
OMIM:269920 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Short stature, Abnormality of the tonsils, Thrombocytopeni... |
ORPHA:47 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100083 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recurrent tonsilliti... |
ORPHA:2686 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites |
ORPHA:858 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections,... |
ORPHA:169160 |
| Pseudomyxoma Peritonei |
|
Ascites |
ORPHA:26790 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Distal lower limb muscle weakness, Pes cavus, Hypoalbuminemia |
ORPHA:94124 |
| Laron Syndrome |
|
Hypoglycemia, Micrognathia, Short toe, Hypercholesterolemia, Brachydactyly |
ORPHA:633 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Weight loss, Lymphadenopathy, Bone marrow hypocellu... |
ORPHA:47612 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
| Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis |
ORPHA:834 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
| Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel... |
ORPHA:1988 |
| Roifman Syndrome |
|
Hepatomegaly, Short stature, Eosinophilia, Postnatal growth retardation, Splenomegaly, Lymphadeno... |
OMIM:616651 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Weight loss |
ORPHA:2070 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:619463 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:256550 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Mild postnatal growth... |
OMIM:224120 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythro... |
OMIM:612541 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Pes cavus, Hypoalbuminemia |
OMIM:607250 |
| Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Micrognathia, Small hand, Short foot,... |
OMIM:616222 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Weight loss, Lymph... |
ORPHA:139402 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure to thrive, Anemia |
ORPHA:1842 |
| Roifman Syndrome |
|
Short stature, Eosinophilia, Postnatal growth retardation, Lymphadenopathy, Hepatosplenomegaly, I... |
ORPHA:353298 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... |
OMIM:304790 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Familial Atrial Myxoma |
|
Ascites, Pedal edema |
ORPHA:615 |
| Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth... |
ORPHA:314795 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Growth delay, Abnormal lymphatic vessel morphology, Decreased p... |
ORPHA:90362 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:50251 |
| Mulibrey Nanism |
|
Hepatomegaly, Ascites, Hydrops fetalis |
OMIM:253250 |
| Tempi Syndrome |
|
Transudative pleural effusion, Ascites |
ORPHA:284227 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Leuko... |
OMIM:615190 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen... |
ORPHA:520 |
| Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Hepatomegaly, Ascites, Hepatosplenomegaly |
OMIM:615122 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema |
ORPHA:64739 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Edema |
OMIM:611719 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Insulin resistan... |
ORPHA:2457 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Growth delay, Failure... |
OMIM:617388 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Ascites, Hydrops fetalis, Edema |
ORPHA:90308 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Pleural effusion, Ascites |
OMIM:235200 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Tapered finger, Small hand, Type II diabetes mellitus, Short clavicles, Hypercholesterolemia |
ORPHA:401923 |
| Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
| Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Micrognathia, Small hand, Short foot, Hypercholesterolemia,... |
ORPHA:96184 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Ascites, Edema, Oligohydramnios |
OMIM:608104 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
| Cole Disease |
|
Punctate palmoplantar hyperkeratosis, Hyperglycemia, Palmoplantar keratoderma, Abnormal blood pho... |
OMIM:615522 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal... |
ORPHA:288 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:602347 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Growth delay, Inc... |
ORPHA:98813 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Extramedull... |
ORPHA:79303 |
| Mirage Syndrome |
|
Short stature, Thrombocytopenia, Cryptorchidism, Leukopenia, Decreased body weight, Intrauterine ... |
OMIM:617053 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation |
ORPHA:1133 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... |
ORPHA:1332 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... |
OMIM:307800 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Neut... |
ORPHA:1667 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
| Griscelli Syndrome |
|
Splenomegaly, Hepatomegaly, Ascites, Pedal edema |
ORPHA:381 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Ascites, Hydrops fetalis, Polyhydramnios |
OMIM:616897 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma, Weight loss |
ORPHA:764 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Hepatosplenomegaly, Ascites |
ORPHA:367 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Short stature |
OMIM:602361 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Weight loss |
ORPHA:188 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia |
OMIM:185070 |
| Peeling Skin Syndrome 1 |
|
Short stature, Eosinophilia |
OMIM:270300 |
| Alg8-Cdg |
|
Ascites, Hydrops fetalis, Edema, Oligohydramnios |
ORPHA:79325 |
| Niemann-Pick Disease, Type A |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:257200 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... |
ORPHA:293173 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... |
ORPHA:79237 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ascites, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617021 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
| Classic Galactosemia |
|
Hepatomegaly, Ascites |
ORPHA:79239 |
| Holocarboxylase Synthetase Deficiency |
|
Growth delay, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Down-sloping shoulders, Micrognathia, Coxa valga, Insulin... |
OMIM:248370 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| 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 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia, Cachexia |
ORPHA:2930 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Facial edema, Pedal edema, Anasarca, Pleural effusion, Ascites |
ORPHA:567546 |
| Pgm3-Cdg |
|
Hemolytic anemia, Lymphopenia, Short stature, Abnormal proportion of CD8-positive T cells, Eosino... |
ORPHA:443811 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Pleural effusion, Ascites |
OMIM:617397 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Ascites, Edema, Generalized edema |
OMIM:226300 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
| Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia |
ORPHA:90045 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholest... |
OMIM:616730 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Growth delay, Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positi... |
OMIM:243700 |
| Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose into... |
OMIM:608612 |
| Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma... |
ORPHA:97289 |
| Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Large hands, Hyper... |
ORPHA:528 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune hemolytic ... |
OMIM:102700 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte... |
OMIM:619487 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Postnatal growth retardation, We... |
OMIM:212750 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss |
ORPHA:449400 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Dengue Fever |
|
Hepatomegaly, Ascites |
ORPHA:99828 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses... |
ORPHA:96334 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
| Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Throm... |
ORPHA:160 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Reynolds Syndrome |
|
Hepatomegaly, Ascites, Xerostomia |
ORPHA:779 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Bone-... |
ORPHA:275761 |
| Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Cirrhosis, Hepa... |
ORPHA:465508 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Smith-Magenis Syndrome |
|
Pes planus, Hypertriglyceridemia, Short palm, Hypercholesterolemia, Brachydactyly |
OMIM:182290 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ... |
ORPHA:2298 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Edema, Hepatosplenomegaly |
ORPHA:93400 |
| Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Lymphatic Malformation 12 |
|
Fetal ascites, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema |
OMIM:620014 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Ascites |
ORPHA:2848 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ... |
ORPHA:50918 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... |
ORPHA:199299 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid ac... |
ORPHA:20 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Hepatospl... |
ORPHA:781 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:93552 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Recurrent tonsillitis, Weight loss, Ch... |
ORPHA:171876 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Pedal edema, Ascites |
ORPHA:77259 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema |
OMIM:115197 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... |
OMIM:301074 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Ascites |
OMIM:235255 |
| Hirschsprung Disease |
|
Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
| Fanconi-Bickel Syndrome |
|
Bowing of the long bones, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hy... |
ORPHA:2088 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
| Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy, Weight loss |
ORPHA:2221 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Visceromegaly |
ORPHA:2905 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Weight loss |
ORPHA:134 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Lymphadenopathy, Weight loss, Hepatosplenomegaly, Abnor... |
ORPHA:85450 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Pes cavus, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
OMIM:208920 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Ascites |
OMIM:608013 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Lymphadenopathy, Weight loss |
ORPHA:142 |
| Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Hypercholester... |
OMIM:618348 |
| Necrotizing Enterocolitis |
|
Ascites, Edema |
ORPHA:391673 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Peripheral edema, Ascites, Pulmonary edema |
ORPHA:57777 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Hyperglycemia |
OMIM:619737 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
| Hepatoportal Sclerosis |
|
Splenomegaly, Ascites |
ORPHA:64743 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97283 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Disproportionate short stature, Eosinophilia, Hepatic cysts |
OMIM:617425 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Splenomegaly... |
ORPHA:1304 |
| Sclerosing Cholangitis, Neonatal |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:617394 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
| Cirrhosis, Familial |
|
Ascites |
OMIM:215600 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Short Syndrome |
|
Enlarged epiphyses, Micrognathia, Insulin resistance, Insulin-resistant diabetes mellitus, Slende... |
OMIM:269880 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss |
ORPHA:3208 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
| Donohue Syndrome |
|
Hyperinsulinemia, Large hands, Fasting hypoglycemia, Postprandial hyperglycemia, Hyperglycemia, L... |
OMIM:246200 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Increased LDL c... |
ORPHA:412 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Weight loss, Ovarian neoplasm, Pancreatitis, Anemia |
ORPHA:370348 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97282 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Ascites |
ORPHA:1655 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss |
ORPHA:52417 |
| Neuhauser Syndrome |
|
Pes planus, Arachnodactyly, Genu recurvatum, Micrognathia, Genu valgum, Pes valgus, Hypercholeste... |
OMIM:249310 |
| Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... |
ORPHA:86816 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
| Graves Disease, Susceptibility To, 1 |
|
Goiter, Weight loss |
OMIM:275000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema |
OMIM:261740 |
| Farber Disease |
|
Joint swelling, Ascites, Hydrops fetalis, Hepatosplenomegaly |
ORPHA:333 |
| Autoimmune Hepatitis |
|
Splenomegaly, Ascites |
ORPHA:2137 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Eosinophilia, Abscess, Neutropenia, Failure to thrive |
OMIM:615816 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites |
OMIM:620369 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Smith-Magenis Syndrome |
|
Pes planus, Toe syndactyly, Hypertriglyceridemia, Micrognathia, Hand polydactyly, Clinodactyly of... |
ORPHA:819 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... |
ORPHA:37042 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Renpenning Syndrome |
|
Growth delay, Severe short stature, Decreased testicular size, Cachexia |
ORPHA:3242 |
| Fraser Syndrome 3 |
|
Ascites, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617667 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
| Microsporidiosis |
|
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Peritonitis, Lymphadenitis, Bili... |
ORPHA:2552 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss |
ORPHA:324964 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100075 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Decreased liver function, Hepatic steatosis |
ORPHA:42 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:251880 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni... |
ORPHA:36426 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Gm1 Gangliosidosis |
|
Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Failure to thrive |
ORPHA:354 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Acanth... |
ORPHA:97280 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
| Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
| Megalocornea-Intellectual Disability Syndrome |
|
Tapered finger, Micrognathia, Metatarsus valgus, Hypercholesterolemia, Genu varum |
ORPHA:2479 |
| Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Adams-Oliver Syndrome |
|
Ascites |
ORPHA:974 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... |
ORPHA:79240 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Weight loss, Neutropenia,... |
ORPHA:537 |
| Whipple Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia |
ORPHA:3452 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Weight loss |
OMIM:188580 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Perlman Syndrome |
|
Ascites, Polyhydramnios, Visceromegaly, Edema |
OMIM:267000 |
| Dend Syndrome |
|
Clinodactyly of the 4th finger, Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophil... |
ORPHA:3260 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
| Secondary Short Bowel Syndrome |
|
Growth delay, Failure to thrive, Cholestasis, Weight loss |
ORPHA:95427 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Ascites |
ORPHA:69665 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Ascites, Hepatosplenomegaly |
ORPHA:79124 |
| Netherton Syndrome |
|
Failure to thrive, Hypereosinophilia |
OMIM:256500 |
| Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Abnormal salivary gland... |
ORPHA:85443 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc... |
OMIM:615846 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Polyhydramnios, Edema, Splenomegaly, Ascites |
OMIM:269860 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Weight loss |
OMIM:613239 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Aspergillosis |
|
Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Neonatal death, Intra... |
OMIM:601186 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
| Immunodeficiency 22 |
|
Ascites |
OMIM:615758 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Splenomegaly, Hepatomegaly, Ascites, Hepatosplenomegaly |
OMIM:259720 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic... |
ORPHA:100078 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
| Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Mitchell-Riley Syndrome |
|
Ascites |
OMIM:615710 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetalis, Chylothorax, Ascites |
ORPHA:2136 |
| Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Anemia, Weight loss |
ORPHA:29073 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Failure... |
OMIM:617718 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Weight loss |
ORPHA:183 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Cachexia |
OMIM:175500 |
| Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Ascites |
OMIM:200995 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
| Atresia Of Urethra |
|
Ascites, Oligohydramnios |
ORPHA:105 |
| Lymphatic Malformation 13 |
|
Ascites, Nonimmune hydrops fetalis, Lymphedema |
OMIM:620244 |
| Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Cryptorchidi... |
ORPHA:813 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
| Xfe Progeroid Syndrome |
|
Ascites |
OMIM:610965 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Fumarase Deficiency |
|
Ascites, Polyhydramnios |
OMIM:606812 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:371364 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Weight lo... |
OMIM:619381 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Enlarged lacri... |
ORPHA:449432 |
| Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Fasting h... |
ORPHA:264580 |
| Tetrasomy 12P |
|
Short stature, Cachexia |
ORPHA:884 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intrauterine growth retardation, Fa... |
ORPHA:217346 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Hepatomegaly, Pleural effusion, Ascites |
OMIM:306400 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Wilson Disease |
|
Hepatomegaly, Edema, Splenomegaly, Pedal edema, Ascites |
OMIM:277900 |
| Lymphangioleiomyomatosis |
|
Ascites, Chylothorax, Chylopericardium, Lymphedema |
ORPHA:538 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:301072 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Failure to thrive, Weight loss |
ORPHA:79128 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Intrauterine growth retardation |
ORPHA:251071 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
| Rat-Bite Fever |
|
Lymphadenitis, Weight loss, Anemia, Pancreatitis, Parotitis |
ORPHA:31205 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Ascites, Polyhydramnios |
OMIM:617156 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Prea... |
OMIM:619471 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Hypertriglyceridemia |
OMIM:610644 |
| Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
| Sarcoidosis |
|
Hepatomegaly, Hemolytic anemia, Parotitis, Eosinophilia, Portal hypertension, Thrombocytopenia, I... |
ORPHA:797 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Weight loss |
ORPHA:91139 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia |
OMIM:618186 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss |
ORPHA:2126 |
| Mucolipidosis Type Ii |
|
Short stature, Postnatal growth retardation, Splenomegaly, Weight loss, Hepatosplenomegaly |
ORPHA:576 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Delayed puberty, Slender build, Anemia |
ORPHA:1328 |
| Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Increased body weight, T... |
ORPHA:96253 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemia, Glycosuria,... |
OMIM:227810 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Increased nuchal translucency, Ascites, Polyhydramnios |
ORPHA:1052 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Primary Biliary Cholangitis |
|
Ascites |
ORPHA:186 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Thrombocytopenia, Hepatosplenome... |
ORPHA:2072 |
| Carney Triad |
|
Ascites |
ORPHA:139411 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Ascites |
OMIM:256810 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Anasarca, Pleural effusion, Ascites, Oligohydramnios |
OMIM:619573 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss |
ORPHA:424 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop... |
ORPHA:144 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Weight loss, Enlargement of ... |
ORPHA:79078 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:913 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia, Weight loss |
ORPHA:79430 |
| Polymyositis |
|
Hepatomegaly, Weight loss |
ORPHA:732 |
| Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... |
ORPHA:449395 |
| Senior-Boichis Syndrome |
|
Ascites, Hepatosplenomegaly |
ORPHA:84081 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Ascites |
OMIM:613177 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop... |
ORPHA:440437 |
| Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypoplastic nipp... |
OMIM:308300 |
| Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Thiamine-responsive megaloblas... |
ORPHA:85138 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Hip dysplasia, Steatorrhea |
ORPHA:440713 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Familial Mediterranean Fever |
|
Splenomegaly, Ascites, Pedal edema |
ORPHA:342 |
| Tyrosinemia, Type I |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:276700 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Anasarca, Ascites |
OMIM:203700 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Short stature, Cryptorchidism, Weight loss, Growth de... |
ORPHA:84 |
| Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
| Acute Adrenal Insufficiency |
|
Weight loss, Normocytic anemia, Failure to thrive, Delayed puberty |
ORPHA:95409 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Ascites |
ORPHA:464321 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Hypercholesterol... |
ORPHA:90674 |
| Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Anemia, Weight loss |
ORPHA:35687 |
| Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Hepatic failure, Weight loss |
ORPHA:397 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
| Short Syndrome |
|
Severe short stature, Weight loss |
ORPHA:3163 |
| Pancreatic And Cerebellar Agenesis |
|
Overlapping fingers, Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Igg4-Related Pachymeningitis |
|
Lymphadenitis, Eosinophilia, Pancreatitis, Parotitis |
ORPHA:449427 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites |
ORPHA:646 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Cutis Marmorata Telangiectatica Congenita |
|
Ascites |
ORPHA:1556 |
| Familial Gestational Hyperthyroidism |
|
Goiter, Thyroid hyperplasia, Weight loss |
ORPHA:99819 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anasarca, Ascites, Oligohydramnios |
OMIM:613658 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyp... |
ORPHA:90041 |
| Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Peritonitis, Mediastinal lymphadenopathy, Lymph... |
ORPHA:228123 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Acute leukemia, Thrombocy... |
ORPHA:647 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Short stature, Failure to thrive in infancy, Splenomegaly, Weight loss, Growth dela... |
OMIM:219800 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
| Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive |
ORPHA:361 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Reduced p... |
ORPHA:99885 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Hydrocele testis, Weight loss |
ORPHA:49041 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Short stature, Obesity, Cachexia |
ORPHA:85293 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss |
ORPHA:1501 |
| Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
| Atypical Werner Syndrome |
|
Pes planus, Diabetes mellitus, Hypertriglyceridemia, Rocker bottom foot, Micrognathia, Insulin-re... |
ORPHA:79474 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss |
ORPHA:276621 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Nocardiosis |
|
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Weight loss, Cutaneous abscess |
ORPHA:31204 |
| Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Short stature, Cachexia |
ORPHA:79076 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Splenomegaly, Ascites, Oligohydramnios, Hepatosplenomegaly |
ORPHA:731 |
| Granulomatosis With Polyangiitis |
|
Granulomatosis, Pancreatitis, Weight loss |
ORPHA:900 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit... |
ORPHA:449563 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuric... |
ORPHA:79259 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... |
OMIM:218330 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
| Crimean-Congo Hemorrhagic Fever |
|
Pericardial effusion, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:99827 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... |
ORPHA:652 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Short stature, Weight loss |
ORPHA:420741 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Behçet Disease |
|
Orchitis, Splenomegaly, Lymphadenopathy, Weight loss, Pancreatitis |
ORPHA:117 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Pedal edema, Peripheral edema, Ascites, Generalized edema |
ORPHA:97214 |
| Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Large hands, Hyperaldosteronism, Recurrent infantile hypogl... |
ORPHA:508 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:91347 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Micrognathia, Hip dislocation, Genu valgum, Hypokalemia, Hyperaldost... |
ORPHA:534 |
| Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Supernumerary nipple |
ORPHA:464 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss |
ORPHA:29072 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Hyperglycemia, Hip s... |
ORPHA:444077 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Splenomegaly, Pedal edema, Peripheral edema, Ascites |
ORPHA:75565 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Severe short stature, Cachexia, Postnatal growth ret... |
ORPHA:191 |
| Liver Disease, Severe Congenital |
|
Splenomegaly, Hepatomegaly, Ascites, Pulmonary edema |
OMIM:619991 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia... |
OMIM:300373 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Elevated maternal se... |
OMIM:309000 |
| Chronic Graft Versus Host Disease |
|
Pleural effusion, Ascites, Xerostomia |
ORPHA:99921 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... |
OMIM:214800 |
| Trisomy 18 |
|
Short stature, Cachexia, Cryptorchidism, Growth delay, Intrauterine growth retardation |
ORPHA:3380 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... |
ORPHA:2388 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Type I... |
OMIM:606721 |
| Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Ascites |
ORPHA:51608 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Edema, Polyhydramnios, Splenomegaly, Ascites, Generalized edema |
OMIM:619534 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertriglyceridemia, Hypercholesterolemia, Short distal phalanx of finger |
OMIM:118450 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype... |
ORPHA:79102 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
| African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Abnormal ... |
ORPHA:3385 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Cachexia |
ORPHA:109 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Schwartz-Jampel Syndrome |
|
Short stature, Cachexia, Decreased body weight, Testicular torsion, Decreased testicular size |
ORPHA:800 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Talipes equinovarus, Hypercholesterolemia |
ORPHA:273 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia, Brachydactyly |
ORPHA:293987 |
| Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
| Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Glycosuria, Hypokalemia, Increased circulating cre... |
ORPHA:466677 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia |
ORPHA:1969 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Splenomegaly, Anasarca, Ascites, Generalized edema |
OMIM:243800 |
| Postinfectious Vasculitis |
|
Orchitis, Viral hepatitis, Weight loss |
ORPHA:48435 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Weight loss |
ORPHA:91500 |
| Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... |
ORPHA:744 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia, Micrognathia |
OMIM:220111 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
| Goodpasture Syndrome |
|
Anemia, Weight loss |
OMIM:233450 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Short stature, Testicular adrenal rest tumor, Weight loss, Failure to thrive, Decreased testicula... |
ORPHA:90794 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
| Primary Fanconi Renotubular Syndrome |
|
Growth delay, Weight loss |
ORPHA:3337 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Delayed menarche, Weight loss |
ORPHA:740 |
| Stickler Syndrome |
|
Slender build, Short stature, Cachexia |
ORPHA:828 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia, Delayed puberty |
ORPHA:649 |
| Noonan Syndrome |
|
Hepatomegaly, Short stature, Cryptorchidism, Abnormality of the spleen, Abnormality of the lympha... |
ORPHA:648 |
| Noonan Syndrome 6 |
|
Growth delay, Juvenile myelomonocytic leukemia, Short stature, Cryptorchidism |
OMIM:613224 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Short stature |
OMIM:163200 |
| Linear Nevus Sebaceus Syndrome |
|
Growth delay, Adenoma sebaceum |
ORPHA:2612 |
| Nevus, Epidermal |
|
|
OMIM:162900 |
| Thyroid Cancer, Nonmedullary, 2 |
|
|
OMIM:188470 |
| Melanocytic Nevus Syndrome, Congenital |
|
|
OMIM:137550 |
| Colorectal Cancer |
|
|
OMIM:114500 |
| Large Congenital Melanocytic Nevus |
|
|
ORPHA:626 |
| Melanosis, Neurocutaneous |
|
|
OMIM:249400 |
