Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco... |
OMIM:232700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertri... |
OMIM:607616 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Clinodactyly of the 5th finger, Hypertriglyceridemia, Clinodactyly of the 5th toe |
OMIM:618010 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Micrognathia |
ORPHA:436182 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly |
OMIM:300484 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... |
OMIM:613101 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Recurrent lower respirat... |
OMIM:620282 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, He... |
OMIM:603471 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
OMIM:610717 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased cir... |
OMIM:300635 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries, Calf muscle hypertrophy, Hepatic fibrosis, Hepatic stea... |
ORPHA:280356 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Arachnodactyly, Abnormal pulmonary interstitial morphology, Hepatosplenomeg... |
OMIM:619013 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... |
OMIM:605814 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery |
ORPHA:1203 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... |
OMIM:167800 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Cryptorchidism, Recurrent upper respiratory t... |
OMIM:607143 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Pulmonary hypoplasia... |
OMIM:620306 |
Temple Syndrome |
|
Hypertriglyceridemia, Micrognathia, Cryptorchidism, Small hand, Short foot, Hypercholesterolemia,... |
OMIM:616222 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,... |
OMIM:208500 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia |
OMIM:177000 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia |
OMIM:258865 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... |
ORPHA:356961 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Calf muscle hypertrophy, Hepatic steatosi... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... |
OMIM:620076 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension,... |
OMIM:278000 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Respiratory tract infection, Peritonitis, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating... |
OMIM:609441 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... |
OMIM:214900 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158057 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,... |
OMIM:604367 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... |
OMIM:616300 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Perlman Syndrome |
|
Hepatomegaly, Micrognathia, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Smith-Magenis Syndrome |
|
Pes planus, Hypertriglyceridemia, Short palm, Hypercholesterolemia, Brachydactyly |
OMIM:182290 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morphology, Abnormal pelvic... |
ORPHA:1988 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Polycystic ovari... |
ORPHA:79083 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Large hands, Cirrhosis, Hypercholesterole... |
ORPHA:528 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... |
OMIM:258315 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Splenomegaly, Abnormality of the lower lim... |
ORPHA:3035 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
ORPHA:412 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Hepatic steatosis |
OMIM:615381 |
Seckel Syndrome 10 |
|
Microretrognathia, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth... |
ORPHA:314795 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... |
ORPHA:66628 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ... |
OMIM:617925 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreat... |
ORPHA:2348 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... |
ORPHA:179494 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Increased hepatocellular lipid droplets, ... |
ORPHA:71 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Short clavicles,... |
ORPHA:2457 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... |
ORPHA:435660 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, Small proximal tibial epiphy... |
ORPHA:96334 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen mor... |
ORPHA:2470 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Fibular aplasia |
OMIM:218550 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Bowing of the long bones, Hypertriglyceridemia, Hypophosphatemia, Abnormal hepatic ... |
ORPHA:2088 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Polycystic... |
ORPHA:79086 |
Smith-Magenis Syndrome |
|
Pes planus, Hypertriglyceridemia, Toe syndactyly, Micrognathia, Hand polydactyly, Clinodactyly of... |
ORPHA:819 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellular carcin... |
ORPHA:369 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Alstrom Syndrome |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypertriglycerid... |
OMIM:203800 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... |
OMIM:307800 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
Microtriplication 11Q24.1 |
|
Metatarsus adductus, Hyperlipidemia, Small hand, Genu valgum, Short foot, Talipes equinovarus, Cl... |
ORPHA:289522 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:264580 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Hypertriglyceridemia, Splenomegaly, Increased circulating fer... |
OMIM:619802 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous ... |
OMIM:206920 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Recurrent upper respiratory tra... |
OMIM:618183 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Microretrognathia... |
OMIM:619418 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles tendon contrac... |
ORPHA:98855 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Foot joint contractu... |
ORPHA:456312 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... |
ORPHA:1414 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Deviation of the 2nd fing... |
ORPHA:1305 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici... |
OMIM:260370 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... |
OMIM:619313 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Abnorm... |
ORPHA:958 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of di... |
ORPHA:280365 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating f... |
OMIM:603553 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnormal c... |
OMIM:615980 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
ORPHA:540 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles tendon contrac... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles tendon contrac... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles tendon contrac... |
ORPHA:261 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Pes planus, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Phalangeal dislocati... |
ORPHA:536532 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Reni Syndrome |
|
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Hypercholesterolemia,... |
OMIM:610644 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... |
OMIM:615710 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Metaphyseal widening, Genu varum, Steatorrhea, Hyperechogenic pancreas, Metaphyseal... |
OMIM:617941 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hepatic fibrosis, Pulm... |
OMIM:200995 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... |
ORPHA:470 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
Xp21 Deletion Syndrome |
|
Finger clinodactyly, Calf muscle hypertrophy, Hypertriglyceridemia, Elevated circulating creatine... |
ORPHA:261476 |
H Syndrome |
|
Hallux valgus, Pes planus, Hypertriglyceridemia, Recurrent pharyngitis, Bronchiectasis, Hepatospl... |
ORPHA:168569 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Hepatomegaly, Finger swelling, Hypertriglyceridemia |
OMIM:617591 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe ... |
ORPHA:488642 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb... |
OMIM:616263 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnormal circulating creatine kinase ... |
ORPHA:98907 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, 2-3 toe syndactyly, Delayed pubic bone ossification, Knee flexion contracture, Irregu... |
OMIM:618162 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Micrognathia, Abnormal lung lobation, Up... |
ORPHA:369837 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Emphysema... |
ORPHA:363618 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypersplenism, Splen... |
ORPHA:77293 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missin... |
OMIM:200980 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal humeri, Rhizo... |
OMIM:164745 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Micrognathia, Decreased ... |
OMIM:619127 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Congenital Analbuminemia |
|
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Rec... |
ORPHA:86816 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Trisomy 8P |
|
Short fourth metatarsal, Clinodactyly of the 4th toe, Short fifth metatarsal, Overlapping toe, Cl... |
ORPHA:264450 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced numb... |
OMIM:118450 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... |
ORPHA:567983 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepa... |
OMIM:232220 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Polycystic ovaries, X... |
ORPHA:79259 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Supernumerary nipple, Micrognathia, Tapered finger, Mesomelic/rhizom... |
OMIM:605039 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification, Elevated circulating C-reactive prote... |
ORPHA:676 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Hy... |
ORPHA:275761 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Large h... |
OMIM:608594 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormality of the pancreas... |
ORPHA:1318 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Po... |
OMIM:269700 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Recurrent respiratory infections, Hypertriglyceridemia, Splenomegaly, Jaundice, Inc... |
ORPHA:167 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypop... |
OMIM:256040 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal cyst, Abnormal circulating creat... |
ORPHA:98908 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Cholecys... |
ORPHA:90041 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia |
ORPHA:79477 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
ORPHA:158048 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Cryptorchidism, Hyperlipidemia, Deep plantar cre... |
ORPHA:254346 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Pancreatic steatosis, Cryptorchi... |
OMIM:617052 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis |
OMIM:307030 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Jaundi... |
OMIM:619573 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Hyp... |
ORPHA:90154 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Recurrent respiratory infections, Short humerus, Hypertriglyceridemia, Short femur, Pne... |
OMIM:264090 |
Atypical Werner Syndrome |
|
Abnormality of the Achilles tendon, Pes planus, Hypertriglyceridemia, Rocker bottom foot, Microgn... |
ORPHA:79474 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly |
ORPHA:31150 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Down-sloping shoulders, Micrognathia, Coxa valga, Hyperlipidemia, Short... |
OMIM:248370 |
Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Talipes, Micrognathia, Asplenia,... |
ORPHA:564 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cholangitis, Micrognathia, Short metatarsal, Hepatic fibrosis, Clinodactyly of the 5th finger, Sh... |
OMIM:266920 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Broad hallux phalanx, Finger syndactyly, Pes planus, Toe syndac... |
ORPHA:2308 |
Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Hepatomegaly, Brachydactyly, Rhizomelia, Broad toe, Malformatio... |
OMIM:218330 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Micrognathia, Cryptorchidism, Short thumb, Small hand, Short foot, Ta... |
OMIM:268400 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... |
ORPHA:449432 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Postax... |
OMIM:267010 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Finger syndactyly, Monorchism, Camptodactyly of finger, Microme... |
ORPHA:2753 |
Feingold Syndrome 1 |
|
Accessory spleen, Micrognathia, Asplenia, Short thumb, Short toe, 4-5 toe syndactyly, 2-3 toe syn... |
OMIM:164280 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxial hand polydactyly, Partial dupl... |
OMIM:227646 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Recurrent p... |
OMIM:606721 |
Fryns Syndrome |
|
Microretrognathia, Ectopic pancreatic tissue, Rocker bottom foot, Proximal placement of thumb, Cr... |
OMIM:229850 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Hyperlipidemia, Breast aplasia, Osteolytic defects of the di... |
ORPHA:90153 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Respiratory tract infection, Hyperlipidemia, Pedal edema, Hydrocele testis, Hypoalbuminemia, Pleu... |
ORPHA:567546 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Broad hallux, Overlapping toe, Micrognathia, Pituitary adenoma, Biliar... |
ORPHA:96149 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Short clavi... |
OMIM:608612 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu... |
ORPHA:699 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Liver abscess, Cholangitis, Portal hypertension, Abnormal pelvis bone morphology,... |
ORPHA:284 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Micrognathia, Missing ribs, Cryptorchidism, Clinodactyly of the... |
OMIM:147791 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Overlapping toe, Micrognathia, Recurrent pneumonia, Hypoplastic pubic bone, Tibial ... |
ORPHA:798 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pr... |
ORPHA:189427 |
Pearson Marrow-Pancreas Syndrome |
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Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Hyperbilirubinemia, Steatorrhea, Exocr... |
OMIM:557000 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Hypertriglyceridemia, Short femur, Decreased response to growth hormone ... |
ORPHA:3455 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Aapoaiv Amyloidosis |
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Abnormal lung morphology, Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Aromatase Deficiency |
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Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Hyperlipidemia, Delaye... |
ORPHA:91 |
Glycogen Storage Disease Ia |
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Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular carcinoma, Pancreatitis |
OMIM:232200 |
Familial Multiple Lipomatosis |
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Hyperlipidemia, Bowing of the long bones |
ORPHA:199276 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respiratory tract infections,... |
OMIM:232240 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Reduced C-peptide level, Hy... |
ORPHA:556955 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Micrognathia, Asplenia, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Abn... |
OMIM:265380 |
Charge Syndrome |
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Hypoparathyroidism, Hypoplasia of the ulna, Decreased response to growth hormone stimulation test... |
OMIM:214800 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm... |
ORPHA:93111 |
Bohring-Opitz Syndrome |
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Recurrent respiratory infections, Micrognathia, Metacarpophalangeal joint contracture, Cholelithi... |
ORPHA:97297 |
Congenital Alveolar Capillary Dysplasia |
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Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Pheochromocytoma... |
OMIM:193300 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Micrognathia, Cryptorchidism, Pneumothorax, Humeroradial synosto... |
ORPHA:3404 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, A... |
ORPHA:565612 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Syndactyly, Micrognathia, Cryptorchidism, Hip dysplasia, Clinodactyly of the 5th finger, Annular ... |
OMIM:616975 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Abnormality of the spleen, Crypt... |
ORPHA:1606 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cryptorchidism, Splenomegaly,... |
ORPHA:116 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... |
ORPHA:64 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone ... |
ORPHA:293987 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |