Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol... |
OMIM:232700 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia |
OMIM:246570 |
Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:604091 |
Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:136120 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... |
OMIM:249700 |
Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... |
OMIM:605274 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... |
ORPHA:1972 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... |
OMIM:612447 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Decreased HDL cho... |
OMIM:607616 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... |
ORPHA:93323 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... |
OMIM:135750 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Recurrent aspiration pneumonia, Syndactyly |
OMIM:300484 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Micrognathia, Hepatic steatosis |
ORPHA:436182 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Hepatosple... |
OMIM:613101 |
Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... |
OMIM:603471 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Recurrent sinusitis, Splenome... |
OMIM:620282 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... |
OMIM:207750 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:610947 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia |
OMIM:306000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... |
OMIM:612526 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Increased cir... |
OMIM:300635 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... |
OMIM:201170 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Arachnodactyly, Hepatosplenomeg... |
OMIM:619013 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati... |
OMIM:605814 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
OMIM:616516 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Calf muscle hypertrophy, Hepatic fibrosis, Hepatic steatosis, Polycystic ov... |
ORPHA:280356 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... |
OMIM:603552 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Hyperlipoproteinemia, Type Id |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... |
OMIM:615947 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Pleural effusion, Exocrine pancreatic insuffici... |
OMIM:167800 |
Orofaciodigital Syndrome Iv |
|
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... |
OMIM:258860 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, Cryptorchidism, Short... |
OMIM:607143 |
Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... |
OMIM:251230 |
Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... |
ORPHA:79106 |
Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Temple Syndrome |
|
Hypertriglyceridemia, Decreased testicular size, Micrognathia, Clinodactyly, Cryptorchidism, Hype... |
OMIM:616222 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... |
OMIM:208500 |
Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Recurrent aspiration pneumonia, Toe syndactyly, Short tibia |
OMIM:258865 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... |
ORPHA:2378 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... |
ORPHA:139507 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... |
ORPHA:209902 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... |
ORPHA:1106 |
Slc35A2-Cdg |
|
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Increased circulating thyrog... |
ORPHA:356961 |
Immunodeficiency 114, Folate-Responsive |
|
Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Splenomegaly, I... |
OMIM:620603 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Calf muscle hypertrophy, Polycystic ovaries, He... |
ORPHA:435651 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega... |
OMIM:214900 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... |
ORPHA:166016 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femora... |
OMIM:620076 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Steatorrhea, Decreased HDL cholesterol concentrati... |
OMIM:278000 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... |
OMIM:613027 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Respiratory tract infection, Peri... |
ORPHA:567548 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... |
ORPHA:56305 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... |
OMIM:238600 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Femoral bowing, Short ribs, Short long bone, Acetabular spurs, Postaxial po... |
OMIM:615503 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... |
OMIM:616300 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... |
ORPHA:158057 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... |
ORPHA:247585 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... |
OMIM:227270 |
Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... |
OMIM:615558 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... |
OMIM:263520 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Polycyst... |
OMIM:604367 |
Tangier Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... |
OMIM:205400 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:618620 |
Perlman Syndrome |
|
Micrognathia, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Atelosteogenesis Type I |
|
Abnormal fibula morphology, Rhizomelia, Abnormal pancreatic duct morphology, Short long bone, Mic... |
ORPHA:1190 |
Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... |
ORPHA:1988 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries, Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger |
OMIM:618010 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... |
OMIM:600785 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hepatic steatosis |
ORPHA:363400 |
Omodysplasia 1 |
|
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... |
OMIM:258315 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... |
OMIM:267700 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... |
ORPHA:3035 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Calf muscle pseudohyp... |
ORPHA:79083 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Short palm, Brachydactyly, Pes planus, Hypercholesterolemia |
OMIM:182290 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... |
OMIM:602111 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Long foot, Hepatomegaly, Cirrhosis, Hypercholesterolemia, Increased C-pepti... |
ORPHA:528 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... |
OMIM:613091 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... |
OMIM:119800 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Micrognathia, Cryptorchidism, Hepatic steatosis |
OMIM:615381 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... |
ORPHA:412 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Cryptorchidism |
OMIM:218550 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Slender long bone, Acute pancreatitis, Metaphyseal widening, Elevated circu... |
OMIM:617253 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular siz... |
ORPHA:66628 |
Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low... |
ORPHA:314795 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Pancreatic Agenesis 2 |
|
Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:615935 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Acute pancreatit... |
ORPHA:444490 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular siz... |
ORPHA:179494 |
Lcat Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... |
ORPHA:650 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steat... |
ORPHA:2348 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia, Pleural effusion |
OMIM:603278 |
Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... |
OMIM:164900 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... |
ORPHA:96334 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m... |
ORPHA:2470 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly |
OMIM:618398 |
Microtriplication 11Q24.1 |
|
Genu valgum, Clinodactyly of the 5th finger, Hyperlipidemia, Metatarsus adductus, Short foot, Tal... |
ORPHA:289522 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Pleural effusion, Hyponatremia, Micrognathia, Hypomagnesemia,... |
OMIM:618183 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Mi... |
ORPHA:2457 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, Hepatocellular carc... |
ORPHA:369 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, Tibial bo... |
OMIM:307800 |
Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... |
ORPHA:2751 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Polycysti... |
ORPHA:435660 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Calf mus... |
ORPHA:79086 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polysplenia, Polycystic liver disease |
OMIM:211890 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Clinodactyly of the 5th finger, Hand polydactyly, Micrognathia, Brachydacty... |
ORPHA:819 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,... |
ORPHA:2088 |
Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... |
OMIM:206920 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... |
ORPHA:1414 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Hepatosplenomegaly, Recurrent sinopulmonary infections, Splenomegaly, Bronc... |
OMIM:619802 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Hyperchol... |
ORPHA:264580 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... |
OMIM:208540 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Ulnar deviation of the 3rd finger, Abnormal liver parenchyma morphology, Abnormal foot morphology... |
ORPHA:456312 |
Prader-Willi Syndrome |
|
Hypertriglyceridemia, Acromicria, Decreased response to growth hormone stimulation test, Radial d... |
OMIM:176270 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micro... |
OMIM:619418 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoplastic spleen, Hypoplasi... |
OMIM:619313 |
Feingold Syndrome |
|
Annular pancreas, Clinodactyly of the 5th finger, Deviation of the 2nd finger, Micrognathia, Abno... |
ORPHA:1305 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:98855 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Reduced C-peptide l... |
OMIM:260370 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, ... |
ORPHA:79240 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Pes cavus, Hyperlipidemia, Elevated circulating creatin... |
OMIM:615980 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal lung lobation, Finger syndactyly, Spli... |
ORPHA:958 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Hyponat... |
OMIM:603553 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Osteolytic defects o... |
ORPHA:280365 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia, Abnormal foot morphology, Hammertoe, Sandal gap, Hallux valgus, Shoulder di... |
ORPHA:536532 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Absent... |
OMIM:615710 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Hypoalbumi... |
ORPHA:540 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Decreased testicular size, Palmoplantar keratoderma, Palmoplantar hyperhidr... |
OMIM:610644 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism |
OMIM:617575 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... |
ORPHA:1788 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:261 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Abnor... |
ORPHA:470 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia |
OMIM:165590 |
Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Extrapulmonary lobar sequestration, Postaxial hand polydactyly, Micromelia, Pulmona... |
OMIM:200995 |
Shwachman-Diamond Syndrome 2 |
|
Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, Metaphyseal widening, Exocrine pancreatic ins... |
OMIM:617941 |
Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... |
OMIM:108720 |
Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... |
ORPHA:103918 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Recurrent... |
OMIM:613327 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
H Syndrome |
|
Hypertriglyceridemia, Recurrent pharyngitis, Camptodactyly, Decreased testicular size, Hepatosple... |
ORPHA:168569 |
Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Cryptorchidism, Mesomelic leg shortening, Syndactyly, Preaxial hand polydact... |
OMIM:603671 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:617591 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Steatorrhea, Hepatomegaly, Proximal placement of thumb, Ulnar deviation of the 2nd finger, Long f... |
OMIM:616263 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Abnormal... |
ORPHA:77293 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Rocker bottom foot, Annular pancreas, Clinodactyly of the 5th finger, Knee flexion contracture, C... |
ORPHA:488642 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Calf muscle hypertrophy, Finger clinodactyly, Elevated circulating creatine... |
ORPHA:261476 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly ... |
OMIM:618162 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co... |
OMIM:610717 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase ... |
ORPHA:98907 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... |
OMIM:151660 |
Alstrom Syndrome |
|
Polydactyly, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatom... |
OMIM:203800 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Abnormal pancreas morphology, Decreased circul... |
ORPHA:48818 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Emphysema, Abnormality of the pulmonary artery, Abnormal intrahepatic bile ... |
ORPHA:363618 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... |
OMIM:200980 |
Omodysplasia 2 |
|
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... |
OMIM:164745 |
Occipital Horn Syndrome |
|
Abnormal fibula morphology, Humerus varus, Genu valgum, Jaundice, Large iliac wing, Abnormal pubi... |
ORPHA:198 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Abnormal lung lobation, Hypertriglyceridemia, Hypoparathyroidism, Slender long bone, Upper limb u... |
ORPHA:369837 |
Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, I... |
ORPHA:86816 |
Saul-Wilson Syndrome |
|
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... |
OMIM:618150 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
Trisomy 8P |
|
Abnormal lung lobation, Clinodactyly of the 5th toe, Annular pancreas, Clinodactyly of the 5th fi... |
ORPHA:264450 |
Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... |
ORPHA:567983 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... |
OMIM:211350 |
Hydrolethalus Syndrome 1 |
|
Abnormal lung lobation, Adrenal gland dysgenesis, Accessory spleen, Upper limb undergrowth, Posta... |
OMIM:236680 |
Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Hypopituitar... |
ORPHA:1827 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Genu valgum, Osteolytic defects of the phalanges of the hand, Macrovesicula... |
OMIM:619127 |
Phocomelia, Schinzel Type |
|
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... |
ORPHA:2879 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatocellular car... |
OMIM:118450 |
Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Hypocalcemia, Abnormal pituitary gland mo... |
ORPHA:64744 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Hyperchole... |
ORPHA:79259 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia,... |
OMIM:232220 |
Bohring-Opitz Syndrome |
|
Deep plantar creases, Hyperechogenic pancreas, Dislocated radial head, Mesomelic/rhizomelic limb ... |
OMIM:605039 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... |
OMIM:228520 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Pancreatic calcification, Elevated circulating C-reactive protein concentration, Recurr... |
ORPHA:676 |
Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Hypoplastic iliac body |
OMIM:112310 |
Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Jaundice, Hyperkalemia, Microvesicular hepatic st... |
ORPHA:275761 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly, Pancreatic c... |
ORPHA:1318 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Abnormal circulating creatine kinase co... |
ORPHA:98908 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly |
ORPHA:79477 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Long foot, Cirrhosis, Hepatomegaly, Acute pancreatitis, Large hands, Spleno... |
OMIM:608594 |
Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... |
ORPHA:3144 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Long foot, Cirrhosis, Hepatomegaly, Acute pancreatitis, Large hands, Spleno... |
OMIM:269700 |
19P13.12 Microdeletion Syndrome |
|
Deep plantar creases, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Hyperlipidem... |
ORPHA:254346 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Flexion contracture ... |
OMIM:256040 |
Mesomelia-Synostoses Syndrome |
|
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... |
OMIM:600383 |
Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Jaundice, Hypoproteinemia, Pleural effusion, Hyponatremia, Hepatosplenomega... |
ORPHA:167 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... |
ORPHA:90041 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal femur morphology, Fractures of the long bones, Abnormal spl... |
ORPHA:464329 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hyperproteinemia, Increased circulating ferriti... |
ORPHA:158048 |
Bone Marrow Failure Syndrome 3 |
|
Hyperechogenic pancreas, Congenital hip dislocation, Micrognathia, Metaphyseal dysplasia, Exocrin... |
OMIM:617052 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... |
OMIM:619573 |
Campomelic Dysplasia |
|
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... |
ORPHA:140 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Long foot, Talipes equinovarus, Slender long bone, Recurrent respiratory in... |
OMIM:264090 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts |
OMIM:616307 |
Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... |
OMIM:114290 |
Atypical Werner Syndrome |
|
Rocker bottom foot, Hypertriglyceridemia, Osteolytic defects of the phalanges of the hand, Ovaria... |
ORPHA:79474 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Aplasia/Hypop... |
ORPHA:90154 |
Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Finger syndactyly, Monorchism, Postaxial hand polydactyly, Split hand, M... |
ORPHA:2753 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Cryptorchidism, Chronic pancreatitis, Hyperglycerolemia |
OMIM:307030 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pleural effusion, Hyperlipidemia, Respiratory tract infection, Hypoalbuminemia, Pedal edema, Hydr... |
ORPHA:567546 |
Meckel Syndrome |
|
Talipes, Accessory spleen, Postaxial hand polydactyly, Bowing of the long bones, Asplenia, Crypto... |
ORPHA:564 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, C... |
OMIM:266920 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Short clavicles, Osteolytic defects of the distal phalanges of the hand... |
OMIM:248370 |
Jacobsen Syndrome |
|
Annular pancreas, Talipes, Recurrent respiratory infections, Finger syndactyly, Missing ribs, Toe... |
ORPHA:2308 |
Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hepatomegaly, Recurrent respiratory i... |
OMIM:218330 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly |
ORPHA:31150 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Congenital hip dislocation, Short palm, Micrognathia, Short thumb, Cryptorchidi... |
OMIM:268400 |
Meckel Syndrome, Type 7 |
|
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... |
OMIM:267010 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Pleural effusion, Spontaneous pneumothorax, Recurrent pancreatitis, Hyperch... |
OMIM:606721 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... |
ORPHA:449432 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia |
OMIM:256300 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Portal hypertension, Pulmonary hypoplasia, Splenomegaly, Hepat... |
OMIM:263200 |
Feingold Syndrome 1 |
|
Annular pancreas, Accessory spleen, 2-3 toe syndactyly, 4-5 toe syndactyly, Asplenia, Micrognathi... |
OMIM:164280 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Absent radius, Aplasia of the 1st metacarpal, Partial duplication of thumb phal... |
OMIM:227646 |
Fryns Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Chylothorax, Prominent fingertip pads, Camptodac... |
OMIM:229850 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Aplasia/H... |
ORPHA:90153 |
Alveolar Echinococcosis |
|
Jaundice, Liver abscess, Cholangitis, Abnormal spleen morphology, Biliary cirrhosis, Abnormal pel... |
ORPHA:284 |
Bardet-Biedl Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Finger syndactyly, Hypoplasia of t... |
ORPHA:110 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Short ph... |
OMIM:608612 |
Distal Deletion 12Q |
|
Long foot, Annular pancreas, Clinodactyly of the 5th finger, Biliary atresia, 2-3 toe syndactyly,... |
ORPHA:96149 |
Jacobsen Syndrome |
|
Annular pancreas, Clinodactyly of the 5th finger, Missing ribs, Micrognathia, Brachydactyly, Recu... |
OMIM:147791 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Abnormal femoral head morphology, Hyperlipidemia, Hypoplastic pelvis, Shallow aceta... |
ORPHA:1830 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct morphology, Jaund... |
ORPHA:731 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Steatorr... |
ORPHA:699 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Aapoaiv Amyloidosis |
|
Abnormal lung morphology, Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasm... |
ORPHA:157 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli... |
OMIM:232240 |
Aromatase Deficiency |
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Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Hyperlipidemia, Enlar... |
ORPHA:91 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... |
ORPHA:228308 |
Schinzel-Giedion Syndrome |
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Annular pancreas, Hypoplastic pubic bone, Tibial bowing, Camptodactyly, Micrognathia, Recurrent p... |
ORPHA:798 |
Pearson Marrow-Pancreas Syndrome |
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Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Macronodular cirrhosis, Exocrine pancreatic insuff... |
OMIM:557000 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Macronodular adrenal hyperplasia, Hyperlipidemia, Primary hyperparathyroidism, Pituitary adenoma,... |
ORPHA:189427 |
Glycogen Storage Disease Ia |
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Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia |
OMIM:232200 |
Otopalatodigital Syndrome, Type Ii |
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Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... |
OMIM:304120 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Increased circulatin... |
ORPHA:3455 |
Familial Multiple Lipomatosis |
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Hyperlipidemia, Bowing of the long bones |
ORPHA:199276 |
Renal Cysts And Diabetes Syndrome |
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Hyperuricemia, Pancreatic hypoplasia, Biliary tract abnormality, Pancreatic atrophy, Exocrine pan... |
OMIM:137920 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla... |
OMIM:610199 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Abnormal lung lobation, Annular pancreas, Pleural effusion, Pulmonary artery dilatation, Asplenia... |
OMIM:265380 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hyper... |
ORPHA:93111 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Hypoamylasemia, Pancreatic aplasia, Aplasia/Hypoplasia of the phalanges of the thumb, Absent gall... |
ORPHA:556955 |
Charge Syndrome |
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Hypoplasia of the ulna, Decreased response to growth hormone stimulation test, Hypoparathyroidism... |
OMIM:214800 |
Bohring-Opitz Syndrome |
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Annular pancreas, Cholelithiasis, Metacarpophalangeal joint contracture, Micrognathia, Recurrent ... |
ORPHA:97297 |
Congenital Alveolar Capillary Dysplasia |
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Absent gallbladder, Annular pancreas, Asplenia |
ORPHA:210122 |
Ulbright-Hodes Syndrome |
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Pneumothorax, Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradi... |
ORPHA:3404 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Von Hippel-Lindau Syndrome |
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Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Pheochromocyto... |
OMIM:193300 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hepatomegaly, Pancreatitis, Hyperlipidemia, Elevated circulating creatine kinase concentration, S... |
ORPHA:565612 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Hip dysplasia, Crypto... |
OMIM:616975 |
1P36 Deletion Syndrome |
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Annular pancreas, Clinodactyly of the 5th finger, 11 pairs of ribs, Lower limb asymmetry, Foot po... |
ORPHA:1606 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Exocrine pancreatic insuffi... |
ORPHA:116 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Alström Syndrome |
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Hypertriglyceridemia, Hyperlipidemia, Recurrent sinusitis, Splenomegaly, Hepatic steatosis, Short... |
ORPHA:64 |
Fabry Disease |
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Abnormal circulating lipid concentration, Hyperlipidemia, Abnormal femur morphology, Emphysema |
ORPHA:324 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Decreased response to growth hormone stimulation test, Recurrent lower respiratory tract infectio... |
ORPHA:293987 |
Woodhouse-Sakati Syndrome |
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Decreased testicular size, Decreased response to growth hormone stimulation test, Streak ovary, H... |
ORPHA:3464 |
Woodhouse-Sakati Syndrome |
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Decreased testicular size, Hyperlipidemia |
OMIM:241080 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |