Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Cleft palat... |
ORPHA:141152 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Decreased body weight, Hip contracture, Camptodactyly of finger, Short neck, Cleft l... |
OMIM:619110 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Short neck, Micrognathia, Cleft palate, Abnormal vertebral morphology |
ORPHA:2015 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... |
OMIM:618363 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Cleft palate, ... |
ORPHA:3104 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... |
OMIM:613662 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Micrognathia, Short neck, Increased intervertebral space... |
OMIM:256050 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Scoliosis |
OMIM:619013 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Vertebral clefting, Cleft palate, To... |
ORPHA:1248 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:98855 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:98863 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Obesity |
OMIM:103200 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Micrognathia, Pyloric stenosis, Obesity, Cleft palate, Feeding difficu... |
ORPHA:96184 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis |
OMIM:616222 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:261 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Back pain, Abdominal pain, Feeding difficulties in infancy, Abdomina... |
ORPHA:2924 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Hypertriglyceridemia, Scoliosis |
OMIM:615381 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis |
OMIM:182290 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... |
ORPHA:93311 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular roof, Scoliosis |
OMIM:619345 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Delayed vertebral ossification, Thoracic kyphoscoliosis, Back pain, Small for gestational age, Ky... |
OMIM:613330 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Elbow d... |
OMIM:108721 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Delayed oss... |
ORPHA:3010 |
Sillence Syndrome |
|
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Slender build, Abnormal vertebral morp... |
ORPHA:3168 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Achondrogenesis, Type Ib |
|
Malar flattening, Stillbirth, Abdominal distention, Absent or minimally ossified vertebral bodies |
OMIM:600972 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver... |
OMIM:608104 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Lumbar hyperlordosis, Elevated circulating creatine kin... |
OMIM:615980 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Genu valgum, Platyspondyly, Prot... |
OMIM:184250 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Loeys-Dietz Syndrome 6 |
|
Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Dystonia-Deafness Syndrome 1 |
|
Small for gestational age, Kyphoscoliosis, Cleft upper lip, Cleft palate, Pseudobulbar paralysis,... |
OMIM:607371 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:819 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... |
ORPHA:298 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Antecubital pterygium, Cleft palate, Fus... |
OMIM:618469 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Abdominal distention, Genu varum, Platyspondyly, Thin vermilion... |
OMIM:602557 |
Thyroid Hemiagenesis |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... |
OMIM:203500 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Large for gestational age, Micrognathia, Kyphosis, Protuberant abdomen |
OMIM:618272 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Abdominal distention |
OMIM:174050 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Short neck, Cleft palate, Cleft upper lip |
OMIM:613885 |
Schneckenbecken Dysplasia |
|
Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, ... |
OMIM:269250 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Werner Syndrome |
|
Low back pain, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Abnormal carpal morphology, Cleft palate, Platyspondyly, Malar flattening, ... |
ORPHA:85166 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Hyperuricemia, Scoliosis |
OMIM:203800 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... |
ORPHA:75233 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperl... |
OMIM:613327 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Abdominal distention, Premature osteoarthritis, Platyspondyly, Squared... |
ORPHA:93352 |
Lethal Kniest-Like Dysplasia |
|
Short neck, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, Hypoplastic v... |
ORPHA:2347 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra... |
ORPHA:284984 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Achondrogenesis Type 1A |
|
Abdominal distention, Micrognathia, Short neck, Long philtrum |
ORPHA:93299 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Anorexia, Abdominal pain, Abdominal distention, Decreased body weight, Recurrent infec... |
ORPHA:51890 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Cleft palate, Stillbirth, Protuberant ab... |
OMIM:200610 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Macroglossia, C... |
ORPHA:226313 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Abdominal di... |
ORPHA:1830 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Scoliosis, Short neck |
ORPHA:289522 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malab... |
ORPHA:1876 |
Neu-Laxova Syndrome 2 |
|
Micrognathia, Short neck, Cleft palate, High palate, Protuberant abdomen, Scoliosis, Intrauterine... |
OMIM:616038 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss |
ORPHA:83469 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Cleft lip, Kyphosis, Spinal canal stenosis, Cleft palate, Chronic... |
ORPHA:1724 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Micrognathia, Short neck, Abdominal distention, Alveolar ridge overgrow... |
OMIM:235255 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention, Failure to thrive |
ORPHA:369 |
Digeorge Syndrome |
|
Pilonidal sinus, Micrognathia, High, narrow palate, Obesity, Cleft palate, High palate, Short phi... |
OMIM:188400 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Kyphosis |
ORPHA:536532 |
Loeys-Dietz Syndrome 3 |
|
Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, Osteoarthritis... |
OMIM:613795 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Atelosteogenesis, Type I |
|
Micrognathia, Thoracic platyspondyly, Elbow dislocation, Short neck, Cleft palate, Knee dislocati... |
OMIM:108720 |
Donohue Syndrome |
|
Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Severe failure ... |
OMIM:246200 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent ... |
OMIM:212750 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic... |
ORPHA:100924 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal pain |
ORPHA:314473 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Weight loss, Vomiting, Nausea |
ORPHA:90003 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Abdominal distention, Knee contracture, Feeding difficulties, Gastroesophageal reflux, Intrauteri... |
OMIM:620275 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Pyloric stenosis, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Scoliosis |
ORPHA:369837 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Failure to thrive, Septic arthritis, Arthritis |
OMIM:619423 |
Currarino Syndrome |
|
Absence of the sacrum, Anal stenosis, Hemisacrum, Perianal abscess, Gastrointestinal obstruction,... |
OMIM:176450 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:280365 |
Lead Poisoning |
|
Delayed eruption of teeth, Small for gestational age, Anorexia, Abdominal pain, Abdominal distent... |
ORPHA:330015 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Atypical Werner Syndrome |
|
Micrognathia, Thin vermilion border, Decreased body weight, Failure to thrive, Neoplasm of the or... |
ORPHA:79474 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Abdominal distention, Hemivertebrae, Supernumerary... |
OMIM:271520 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Back pain, Abnormal thoracic spine morphology, Anorexia, Abdominal distentio... |
ORPHA:370348 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Micrognathia, Short neck, Abdominal distention, Alveolar ridge overgrow... |
ORPHA:1655 |
H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
Necrotizing Enterocolitis |
|
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Camptodactyly of finger, Micrognathia, Abdominal distention, Cleft palate |
ORPHA:2604 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Hyperlipidemia, Scoliosis, Short neck |
ORPHA:254346 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hemivertebrae, Butterfly vertebral arch |
OMIM:118450 |
Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Sepsis In Premature Infants |
|
Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco... |
ORPHA:90051 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia |
ORPHA:1414 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Polyembryoma |
|
Abdominal distention, Abnormal sacrum morphology, Abdominal pain |
ORPHA:180229 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Weight loss, Macrog... |
ORPHA:85443 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Oral ulcer, Arthritis, Vomiting |
ORPHA:93552 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointesti... |
ORPHA:2131 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Short neck, Abdominal distention, Protuberant abdomen, Retrognathia |
OMIM:619879 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, B... |
OMIM:270400 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Aapoaiv Amyloidosis |
|
Back pain, Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Vomiting, Gastroesophageal refl... |
OMIM:620233 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Pte... |
ORPHA:79403 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention |
OMIM:613070 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Back pain, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulb... |
ORPHA:79276 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Nausea |
ORPHA:100085 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Abdominal pain |
ORPHA:314478 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Weight loss, Episodic abdominal pain, Nausea |
ORPHA:100086 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea |
OMIM:214700 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Weight loss |
ORPHA:160 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad... |
OMIM:619472 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abdominal distention, Poorly ossified vertebrae, Abnormality of mouth ... |
ORPHA:3003 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Irregular sclerotic endplates, Kyphoscoliosis, Hypoplastic vertebral bodies... |
ORPHA:3455 |
Idiopathic Hypereosinophilic Syndrome |
|
Ankle swelling, Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal distent... |
ORPHA:3260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Scoliosis, Short neck |
OMIM:264090 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abdominal distention, Abnormal tongue morph... |
ORPHA:653 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... |
ORPHA:189427 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention |
OMIM:246400 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Failure to thrive, Poor appetite, Malabsorption |
OMIM:227810 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix |
OMIM:215600 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Short neck, Abdominal distention, Rectal atresia, Narrow mouth, Anal atresia |
OMIM:617666 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain |
ORPHA:64739 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Abdominal distention, Failure to thrive, Hepatic failure, Intrauterine growth retardation |
OMIM:617156 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Intestinal malrotation, Hypoperistalsis, Abdominal distention, Microcolon |
ORPHA:2241 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... |
ORPHA:436252 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Abdominal disten... |
OMIM:256810 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Thyroid Ectopia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
Hereditary Spherocytosis |
|
Abdominal distention, Gout, Abdominal pain |
ORPHA:822 |
Wilson Disease |
|
Acute hepatic failure, Abdominal distention, Osteoarthritis, Esophageal varix, Vomiting, Dysphagi... |
OMIM:277900 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... |
ORPHA:666 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention, Increased body mass index |
ORPHA:300373 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Myhre Syndrome |
|
Vertebral fusion, Enlarged vertebral pedicles, Platyspondyly, Short neck |
OMIM:139210 |
Leprechaunism |
|
Abdominal distention, Rectal prolapse, Megarectum, Thick vermilion border, Severe intrauterine gr... |
ORPHA:508 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters |
ORPHA:158684 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
Primary Biliary Cholangitis |
|
Celiac disease, Abdominal distention, Hepatic failure, Gastrointestinal inflammation |
ORPHA:186 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Failure to thrive, Micrognathia, Abdominal distention, Diarrhea, Malnutrition,... |
OMIM:619991 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention |
OMIM:218700 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Micrognathia, Esophageal atresia, Abdominal distention, Ectopic anus, Absent or ... |
ORPHA:93271 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Bowel incontinence |
ORPHA:309271 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submuco... |
OMIM:235730 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral mucosal blisters, Intestinal perforation, Oral-pharyngeal dysphagia, Diarrhea, Abd... |
ORPHA:95455 |
Aromatase Deficiency |
|
Hyperlipidemia |
ORPHA:91 |
Kasabach-Merritt Syndrome |
|
Abdominal distention, Abdominal pain |
ORPHA:2330 |
Alström Syndrome |
|
Thoracic scoliosis, Hypertriglyceridemia, Kyphosis, Hyperlipidemia, Lumbar scoliosis |
ORPHA:64 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Abdominal distention, Esophageal varix, Knee dislocation, Everted lower lip vermilion, Gastroesop... |
OMIM:619534 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Eisenmenger Syndrome |
|
Abdominal distention |
ORPHA:97214 |