Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Hyperchol... |
OMIM:232700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism |
OMIM:145750 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:607616 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe |
OMIM:618010 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Micrognathia, Hepatic steatosis |
ORPHA:436182 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Recurrent aspiration pneumonia, Syndactyly, Polydactyly |
OMIM:300484 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly, Recurrent upper r... |
OMIM:613101 |
Temple Syndrome |
|
Small hand, Micrognathia, Hypertriglyceridemia, Short foot, Clinodactyly, Decreased testicular si... |
OMIM:616222 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... |
OMIM:607143 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase conce... |
OMIM:610717 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, H... |
OMIM:603471 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Plin1-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries, Hepatic stea... |
ORPHA:280356 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... |
OMIM:300635 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Hypertriglyceride... |
OMIM:619013 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... |
OMIM:603552 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Pu... |
OMIM:251230 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concent... |
OMIM:615947 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Pulmonary hypoplasia, L... |
OMIM:236640 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... |
ORPHA:1505 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Calf muscle hypertrophy, Hypertriglyceridemia, Polycy... |
ORPHA:435651 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pleural effu... |
OMIM:167800 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pulmonary artery, Abnormality of the pancreas |
ORPHA:1203 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia |
OMIM:177000 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... |
OMIM:208500 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Camptodactyly, Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Pulmonary hypoplasia, Contracture of the proximal inte... |
OMIM:601559 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... |
OMIM:613027 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis |
ORPHA:79085 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Slc35A2-Cdg |
|
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... |
ORPHA:356961 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Splenomegaly, Steator... |
OMIM:278000 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Res... |
ORPHA:567548 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Elevated circulating follicle stimulating horm... |
OMIM:609441 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Postaxial polydactyly, Short ribs, Femoral bowing, Preaxial polydactyly, Pancre... |
OMIM:615503 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Pancreatic fibrosis, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand ... |
OMIM:263520 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... |
ORPHA:247585 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycyst... |
OMIM:604367 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Perlman Syndrome |
|
Micrognathia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Cryptorchidism |
OMIM:307030 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
Smith-Magenis Syndrome |
|
Brachydactyly, Hypertriglyceridemia, Pes planus, Hypercholesterolemia, Short palm |
OMIM:182290 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Micrognathia, Hypertriglyceridemia, Cryptorchidism, Hepatic steatosis |
OMIM:615381 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Omodysplasia 1 |
|
Cryptorchidism, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited... |
OMIM:258315 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Increased C-peptide level, Long foot, Large hands, Hypertriglyceridemia,... |
ORPHA:528 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... |
OMIM:618620 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Calf muscle pseudohypertrophy, Hypertriglyce... |
ORPHA:79083 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... |
ORPHA:435660 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Micrognathia, Abnormality of fibula morphology, Pulmo... |
ORPHA:3035 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... |
OMIM:267700 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... |
ORPHA:412 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Fibular aplasia |
OMIM:218550 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Jaundice, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased... |
ORPHA:444490 |
Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... |
ORPHA:314795 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Recurrent upper respiratory tract infections, Hypertriglyceridemia, Decr... |
ORPHA:66628 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly |
OMIM:618398 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... |
OMIM:617925 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Seckel Syndrome 10 |
|
Microretrognathia, Metaphyseal widening, Cone-shaped epiphysis, Elevated circulating luteinizing ... |
OMIM:617253 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... |
ORPHA:370 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Recurrent upper respiratory tract infections, Hypertriglyceridemia, Decr... |
ORPHA:179494 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steat... |
ORPHA:2348 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Recurrent respiratory infections, Hyperuricemia |
ORPHA:364 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, Hyp... |
ORPHA:2088 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmonary hypop... |
ORPHA:2470 |
Microtriplication 11Q24.1 |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Hyperlipidemia, Small hand, Genu valgum, Sho... |
ORPHA:289522 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
Mandibuloacral Dysplasia |
|
Short clavicles, Micrognathia, Acroosteolysis of distal phalanges (feet), Hypertriglyceridemia, I... |
ORPHA:2457 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Calf muscle pseudohypertrophy,... |
ORPHA:79086 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea |
OMIM:615935 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... |
ORPHA:96334 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polysplenia, Pancreatic cysts, Bowing of the long bones |
OMIM:211890 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... |
OMIM:307800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... |
OMIM:615710 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, De... |
OMIM:203800 |
Smith-Magenis Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Hypertriglyceridemia, Pes planus, Hy... |
ORPHA:819 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Choles... |
ORPHA:264580 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia |
OMIM:617575 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Microretrognathia, Hepatomegaly, Mu... |
OMIM:619418 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... |
ORPHA:1414 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Bronchiolitis obliterans organizing pneumonia, Sple... |
OMIM:619802 |
Feingold Syndrome |
|
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Deviation of the 2nd finger, Brac... |
ORPHA:1305 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Pleural effusi... |
OMIM:618183 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... |
ORPHA:79240 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hypo... |
ORPHA:98855 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Abnormality of the hallux, Exocrine pancreatic insufficiency, Hepatomegaly, Ulnar deviation of th... |
ORPHA:456312 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Pes cavus, Elevated circulating creatin... |
OMIM:615980 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Micrognathia, Decreased HDL cholesterol concentration, ... |
ORPHA:280365 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Abnormality of toe, Knee dislocation, Equinus calcaneus, Arachnodactyly, Micrognathia, Shoulder d... |
ORPHA:536532 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
Acro-Renal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... |
ORPHA:958 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Splenomega... |
ORPHA:540 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus, Hyp... |
OMIM:619313 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Reduced C-peptide l... |
OMIM:260370 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... |
OMIM:603553 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:261 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Palmoplantar hyperhidrosis, Hypertriglyceridemia, Decreased testicular size, Hypercholesterolemia... |
OMIM:610644 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... |
ORPHA:103918 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Pulmonary hypoplasia, ... |
OMIM:200995 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Shwachman-Diamond Syndrome 2 |
|
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Metaphyse... |
OMIM:617941 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Metaphyseal irregularity, 2-3 toe syndactyly, Irregular epiphyses, Brachydactyl... |
OMIM:618162 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
H Syndrome |
|
Hepatosplenomegaly, Camptodactyly, Hypertriglyceridemia, Pes planus, Hallux valgus, Recurrent pha... |
ORPHA:168569 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Steatorrhea, Intraalveo... |
ORPHA:470 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceride... |
OMIM:613327 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hypertr... |
ORPHA:98907 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:617591 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, ... |
OMIM:151660 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration... |
ORPHA:261476 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Abnormality of the pulmonary artery, Hypercholesterolemia, Abnormal intrahe... |
ORPHA:363618 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Aceruloplasminemia, D... |
ORPHA:48818 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Overlapping toe, Clinodactyly of the 5th finger, Microretrognathia, Small hand,... |
ORPHA:488642 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Micrognathia, Slender long bone, Upper limb undergrowth, Abnormal lung lobati... |
ORPHA:369837 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, Increased LDL cholesterol co... |
ORPHA:77293 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Decreased fibular diameter, Hepatomegaly, Micrognathia, Elevated hemoglobin A1c, Short femoral ne... |
OMIM:619127 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary ... |
OMIM:200980 |
Occipital Horn Syndrome |
|
Coxa vara, Large iliac wing, Coxa valga, Jaundice, Aplasia/hypoplasia of the humerus, Abnormality... |
ORPHA:198 |
Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
Trisomy 8P |
|
Annular pancreas, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th finger, Periph... |
ORPHA:264450 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Recurrent lower respiratory tract infe... |
ORPHA:86816 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Hypocalcemia, Euthyroid goiter, Pancreatic fibr... |
ORPHA:64744 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... |
OMIM:211350 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones |
OMIM:114000 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Exocrine pancreatic insuffi... |
OMIM:118450 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Bohring-Opitz Syndrome |
|
Overlapping toe, Short toe, Dislocated radial head, Deep plantar creases, Supernumerary nipple, M... |
OMIM:605039 |
Fibrochondrogenesis 1 |
|
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... |
OMIM:228520 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Pancreatic calcification, Jaundice, Recurr... |
ORPHA:676 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular ca... |
ORPHA:79259 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Talipes equinovarus, Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Abnormal foot morphology, He... |
OMIM:616263 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Acromelic Frontonasal Dysplasia |
|
Talipes equinovarus, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Hypopituitarism, Patellar h... |
ORPHA:1827 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Steatorrhea, Hepatosplenomegaly, Hypertriglyceridemia, Hepatic ... |
ORPHA:275761 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Long foot, Acute pancreatitis, Large hands, Hypertriglycer... |
OMIM:608594 |
Campomelia, Cumming Type |
|
Hepatomegaly, Brachydactyly, Micromelia, Abnormality of the pancreas, Bowing of the long bones, C... |
ORPHA:1318 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Long foot, Acute pancreatitis, La... |
OMIM:269700 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... |
ORPHA:85165 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, ... |
ORPHA:167 |
Schneckenbecken Dysplasia |
|
Hypoplastic vertebral bodies, Cryptorchidism, Short ribs, Increased fibular diameter, Hypoplastic... |
ORPHA:3144 |
Feingold Syndrome 1 |
|
Annular pancreas, Short toe, 2-3 toe syndactyly, Micrognathia, Accessory spleen, Aplasia/Hypoplas... |
OMIM:164280 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Camptodactyly ... |
OMIM:256040 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... |
ORPHA:98908 |
Primary Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis |
ORPHA:90970 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Pulmonary hypoplasia, Portal hype... |
OMIM:263200 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hyperproteinemia, Hyper... |
ORPHA:158048 |
19P13.12 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Toe clinodactyly, Deep plantar creases, Cryptorchidism, Hyperlipi... |
ORPHA:254346 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... |
OMIM:266910 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79477 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Campomelic Dysplasia |
|
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... |
ORPHA:140 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... |
ORPHA:90041 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Splenomegaly, Fractures of the long bones, Abnormal spleen morph... |
ORPHA:464329 |
Wiedemann-Rautenstrauch Syndrome |
|
Talipes equinovarus, Short femur, Hypoplastic ilia, Micrognathia, Short humerus, Hypoplasia of th... |
OMIM:264090 |
Atypical Werner Syndrome |
|
Ovarian neoplasm, Calf muscle hypertrophy, Micrognathia, Finger clinodactyly, Neoplasm of the lun... |
ORPHA:79474 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... |
OMIM:276820 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short distal phalanx of finger, Hyperlipidemia, Aplasia/Hypoplasia of the clavicles, Micrognathia... |
ORPHA:90154 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hepatomegaly, Jaundice, Elevated circulating C-reactive protein concentration, Chole... |
OMIM:619573 |
Campomelic Dysplasia |
|
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... |
OMIM:114290 |
Meckel Syndrome |
|
Micrognathia, Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Postaxial hand ... |
ORPHA:564 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Short clavicles, Hyperlipidemia, Hepatomegaly, Micrognathia, Down... |
OMIM:248370 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly |
ORPHA:31150 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly, Fulminant hepatit... |
ORPHA:2442 |
Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Absent testis, Micrognathia, Preaxial hand po... |
ORPHA:2753 |
Jacobsen Syndrome |
|
Annular pancreas, Long hallux, Short toe, Toe clinodactyly, Recurrent respiratory infections, Bro... |
ORPHA:2308 |
Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Cholestasis, Postaxial foot polydactyly, Portal hypertension, Bile duct proli... |
OMIM:267010 |
Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Short toe, Hypocalcemia, Hepatomegaly, Short ribs, Short humerus,... |
OMIM:218330 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Talipes equinovarus, Cryptorchidism, Small hand, Micrognathia, Congenital hip d... |
OMIM:268400 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Hypoplasia of the capital femor... |
OMIM:266920 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Abnormal salivary gland morphology, Abnormality of th... |
ORPHA:449432 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb,... |
OMIM:227646 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arteriovenous malformation, Hypertriglyceridemia, Recurrent pancreatitis, Pleural effus... |
OMIM:606721 |
Distal Monosomy 12Q |
|
Annular pancreas, Overlapping toe, Pituitary adenoma, Clinodactyly of the 5th finger, 2-3 toe syn... |
ORPHA:96149 |
Alveolar Echinococcosis |
|
Jaundice, Abnormal spleen morphology, Hepatic cysts, Liver abscess, Pedal edema, Portal hypertens... |
ORPHA:284 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Pedal edema, Hypoalbuminemia, Respiratory tract infection, Pleu... |
ORPHA:567546 |
Jacobsen Syndrome |
|
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Missing ribs, Cryp... |
OMIM:147791 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Hyperlipidemia, Micrognathia, Acroosteolysis of distal phalanges (feet), Short p... |
OMIM:608612 |
Pearson Syndrome |
|
Hypoparathyroidism, Exocrine pancreatic insufficiency, Hypomagnesemia, Hepatomegaly, Decreased re... |
ORPHA:699 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Hyperlipidemia, Aplasia/Hypoplasia of the clavicles, Acroosteolys... |
ORPHA:90153 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Pulmonary hypoplasia, Spontaneous pneumothorax, ... |
ORPHA:731 |
Fryns Syndrome |
|
Short distal phalanx of finger, Microretrognathia, Chylothorax, Prominent fingertip pads, Ectopic... |
OMIM:229850 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... |
ORPHA:189427 |
Schinzel-Giedion Syndrome |
|
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Annular pancreas, Hepatoblastoma,... |
ORPHA:798 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic vertebral bodies, 2-3 toe syndactyly, Decreased response to growth hormone stimulatio... |
ORPHA:3455 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Hyperlipidemia, Genu valgum, Macroorchidism, postpubertal, Crypt... |
ORPHA:91 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Pancreatic fibr... |
OMIM:557000 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic calcifica... |
ORPHA:157 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, H... |
ORPHA:228308 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Micrognathia, Pulmonary lymphangiectasia, Abnormal lung lobation, Misalignment ... |
OMIM:265380 |
Aapoaiv Amyloidosis |
|
Abnormal lung morphology, Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Bowing of the long bones |
ORPHA:199276 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hyperuricemia, Xanthelasma |
OMIM:232200 |
Charge Syndrome |
|
Hypoparathyroidism, Absent tibia, Hypocalcemia, Decreased response to growth hormone stimulation ... |
OMIM:214800 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hyper... |
ORPHA:93111 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Metacarpophalangeal joint contracture, Micrognathia, Recurrent ... |
ORPHA:97297 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Absent gallbladder, Asplenia |
ORPHA:210122 |
Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs,... |
ORPHA:3404 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoamylasemia, Pancreatic aplasia, Absent gallbladder, Aplasia/Hypoplasia of the phalanges of th... |
ORPHA:556955 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... |
OMIM:232240 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... |
ORPHA:189439 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Pulmonary capil... |
OMIM:193300 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... |
OMIM:211910 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Cryptorchidism, Hip d... |
OMIM:616975 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Hepatomegaly, Pancreatitis, Abnormality of the calf musculature, Splenomegaly, El... |
ORPHA:565612 |
1P36 Deletion Syndrome |
|
Annular pancreas, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, 11 pair... |
ORPHA:1606 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... |
ORPHA:116 |
Alström Syndrome |
|
Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hyoplasia of the Leydig cells, Testicular ... |
ORPHA:64 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short sternum, Irregular proximal tibial epiphyses, Abnormal forearm bone morphology, Genu valgum... |
ORPHA:99413 |
Turner Syndrome |
|
Short sternum, Irregular proximal tibial epiphyses, Abnormal forearm bone morphology, Genu valgum... |
ORPHA:881 |
Mosaic Monosomy X |
|
Short sternum, Irregular proximal tibial epiphyses, Abnormal forearm bone morphology, Genu valgum... |
ORPHA:99228 |
Monosomy X |
|
Short sternum, Irregular proximal tibial epiphyses, Abnormal forearm bone morphology, Genu valgum... |
ORPHA:99226 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... |
ORPHA:293987 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Decreased testicu... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Decreased response to growth hormone stimulation test, Decreased testicular size,... |
ORPHA:3464 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |