| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Dec... |
ORPHA:209964 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Protracted diarrhea, Villous atrophy, Death in infancy, Abnormal intestine morpholo... |
OMIM:251850 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa... |
OMIM:613217 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Diarrhea 9 |
|
Diarrhea, Villous atrophy, Failure to thrive |
OMIM:618168 |
| Lactose Intolerance, Adult Type |
|
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... |
OMIM:223100 |
| Vascular Hyalinosis |
|
Chorioretinal scar, Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption, Subarachno... |
OMIM:277175 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal colic, Villous atrophy |
OMIM:615863 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intrauteri... |
OMIM:243150 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... |
ORPHA:160148 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Smal... |
ORPHA:329971 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... |
ORPHA:103907 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Villous atrophy, Abnormal small in... |
ORPHA:95427 |
| Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Abnormality of the g... |
ORPHA:2070 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention |
ORPHA:103910 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, Growth delay |
OMIM:613148 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... |
OMIM:619445 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... |
OMIM:175500 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... |
ORPHA:326 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
| Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormality of connective tissue, Abnormal rectum mo... |
ORPHA:70475 |
| Pouchitis |
|
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... |
ORPHA:217067 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Perioral erythema, Bloody diarrhea, Villous atrophy, Duodenitis, Perianal eryt... |
OMIM:614328 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gas... |
OMIM:174900 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... |
ORPHA:2198 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hyper... |
ORPHA:251992 |
| Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... |
OMIM:246700 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Tenesmus, Pro... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Tenesmus, Pro... |
ORPHA:100082 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarci... |
ORPHA:157794 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Gastrointestinal hemorrhage, Intestinal bleeding... |
ORPHA:79076 |
| Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Failure to thrive, Bloody diarrhea, Intrauterine growth retardation, Villous atrophy, C... |
OMIM:614602 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Skin ulcer, Neoplasm of the liver, Neoplasm of the rectum, An... |
ORPHA:424019 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin, Increased body weight, Constipation, Omphalocele, Increased body mass index, Macrogloss... |
OMIM:614450 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Umbilical hernia, Dry skin, Severe postnatal growth retardation, Omphalocele, Macroglossia, Feedi... |
OMIM:275100 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
| Autoinflammation With Infantile Enterocolitis |
|
Diffuse alveolar hemorrhage, Secretory diarrhea, Failure to thrive, Villous atrophy, Feeding diff... |
OMIM:616050 |
| Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... |
ORPHA:92050 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Death in infancy, Omphalocele |
OMIM:258320 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Hepatic failure, Failure to thrive, Prolonged prothrombin time, Fat malabsorption |
OMIM:214950 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Obesity, Villous atrophy, Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:600955 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Abnormal blee... |
OMIM:602579 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat... |
ORPHA:464321 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Abdominal distention, Gastroschisis |
ORPHA:1198 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Testicular atrophy |
OMIM:601163 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor, Failure to thrive, Anorexia |
ORPHA:79283 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormal rectum morphology, Hernia |
ORPHA:101009 |
| Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat ma... |
OMIM:613291 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Joint contracture of the hand, Diarrhea, Vomiting, Failure to thrive, Villous atroph... |
OMIM:601110 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Omphalocele |
OMIM:190440 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... |
OMIM:203300 |
| Juvenile Polyposis Syndrome |
|
Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multip... |
ORPHA:2929 |
| Cyclic Vomiting Syndrome |
|
Vomiting, Cardiomyopathy, Pallor, Nausea, Attention deficit hyperactivity disorder, Gastrointesti... |
OMIM:500007 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Hepatic failure, Diarrhea, Failure to thrive, Prolonged prothrombin time, Acholic s... |
OMIM:613812 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
| Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology, Hyp... |
ORPHA:2290 |
| Immunodeficiency 85 And Autoimmunity |
|
Vomiting, Failure to thrive in infancy, Villous atrophy, Tube feeding, Chronic diarrhea, Growth d... |
OMIM:619510 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omphalocele, Anal atresia, Small for ... |
ORPHA:63862 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Small Bowel Atresia |
|
Vomiting, Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atr... |
ORPHA:1201 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena |
OMIM:619182 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Diarrhea, Erythema, Esophagitis, Intesti... |
ORPHA:913 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Neopla... |
ORPHA:2869 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal atresia, Small for gestati... |
ORPHA:95706 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Failure to thrive, Hypertrophic cardiomyopathy, Pallor, Dysphagia |
OMIM:613561 |
| Distal Duplication 15Q |
|
Camptodactyly of finger, Intrauterine growth retardation, Anal atresia, Omphalocele, High palate |
ORPHA:1707 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Neonatal death, Rectal atresia, Short stature, Anal atresia, Miscarriage |
OMIM:613390 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... |
OMIM:615237 |
| Esophageal Atresia |
|
Esophagitis, Abnormal gastrointestinal tract morphology, Oral aversion, Feeding difficulties in i... |
ORPHA:1199 |
| Donnai-Barrow Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia |
ORPHA:2143 |
| Refractory Celiac Disease |
|
Protein-losing enteropathy, Jejunitis, Malnutrition, Villous atrophy, Malabsorption, Weight loss,... |
ORPHA:398063 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... |
ORPHA:90362 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Hematochezia, Inflammation of the large intestine, Vasculitis, Failure to thrive, Col... |
OMIM:617718 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Failure to thrive, Car... |
OMIM:615895 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Anorectal anomaly, Abnormal gastrointestinal tract morphology, Congenita... |
ORPHA:1834 |
| Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Obesity, Metrorrhagia, Prolonged prothrombin time, Growth delay, Pulmoni... |
ORPHA:96168 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hematochezia, Self-injurious behavior, Head-banging, Failure to thrive, Freq... |
OMIM:619575 |
| Primary Lateral Sclerosis, Juvenile |
|
Dysphagia, Pallor, Pseudobulbar paralysis |
OMIM:606353 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Bladder Exstrophy |
|
Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ... |
ORPHA:93930 |
| Zygomycosis |
|
Cellulitis, Hematochezia, Gastrointestinal hemorrhage, Colon perforation, Diarrhea, Vomiting, Epi... |
ORPHA:73263 |
| Caudal Duplication |
|
Intestinal duplication, Omphalocele |
ORPHA:1756 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Vasculitis, Epistaxis, Brui... |
ORPHA:906 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Umbilical hernia, Intestinal malrotation, Nausea and vomiting, Death in infancy, Abno... |
ORPHA:2241 |
| Feingold Syndrome 2 |
|
Short stature, Postnatal growth retardation, Intestinal atresia |
OMIM:614326 |
| Plummer-Vinson Syndrome |
|
Pallor, Esophageal web, Dysphagia, Abdominal pain, Glossitis, Tongue atrophy, Geophagia, Poor app... |
ORPHA:54028 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Death in infancy, Feeding difficulties |
OMIM:618183 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... |
OMIM:606528 |
| Mhc Class Ii Deficiency 1 |
|
Failure to thrive, Protracted diarrhea, Malabsorption, Villous atrophy, Colitis |
OMIM:209920 |
| Netherton Syndrome |
|
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia, Failure t... |
OMIM:256500 |
| Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Intrauterine growth retardation, Cleft palate, Omphalocele |
OMIM:603194 |
| Neuroendocrine Tumor Of The Colon |
|
Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Protracted diarrhea, Hypoac... |
ORPHA:100080 |
| 20Q13.33 Microdeletion Syndrome |
|
Failure to thrive in infancy, Hematochezia, Growth delay, Small for gestational age |
ORPHA:261311 |
| Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Osteootohepatoenteric Syndrome |
|
Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Weight... |
OMIM:619377 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Villous atrophy, Lipodystrophy, Failure to thrive |
OMIM:608776 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... |
ORPHA:2494 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Intrauterine growth retardation, Omphalocele |
ORPHA:3035 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... |
ORPHA:90064 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Postnatal growth retardation, Large for gestational age, Diastasis recti, Feedi... |
ORPHA:254534 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Gastroesophageal reflux, Rectal prolapse, Feeding difficulties |
OMIM:619793 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hepatic failure, Vomiting, Failure to thrive, Exocrine pancreatic insufficiency, Villou... |
OMIM:557000 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Villous atrophy, Psor... |
OMIM:614700 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hypogonadism, Hematochezia |
ORPHA:79095 |
| Alpha-Heavy Chain Disease |
|
Abdominal pain, Abnormal small intestine morphology, Growth delay, Malabsorption |
ORPHA:100025 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Glanzmann Thrombasthenia |
|
Gingival bleeding, Menometrorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding following ci... |
ORPHA:849 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Intrauterine growth retardation, Paralytic ileus, Short stature, Celiac disease |
OMIM:620565 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Camptodactyly of toe, Omphaloce... |
OMIM:175700 |
| Acalvaria |
|
Cleft palate, Omphalocele |
ORPHA:945 |
| Neuroendocrine Tumor Of Stomach |
|
Melena, Hepatic failure, Right ventricular failure, Hypotension, Lack of bowel sounds, Protracted... |
ORPHA:100075 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Chronic diarrhea, Villous atrophy, Failure to thrive, Ileus |
OMIM:304790 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Omphalocele |
ORPHA:85174 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception |
OMIM:112200 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Villous atrophy, Death in childhood, Death... |
OMIM:212065 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... |
ORPHA:853 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Intrauterine growth retardation, Gastrointestinal hemorrhage, Death in childhood, Feeding difficu... |
OMIM:620368 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Failure to thrive in infancy, Villous atrophy, Scaling skin, Chronic diarrhea |
OMIM:606367 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Prune belly, Anal atresia, Omphalocele |
OMIM:601389 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Turcot Syndrome With Polyposis |
|
Hematochezia, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Nausea, He... |
ORPHA:99818 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Diarrhea, Growth delay, Villous atrophy, Weight loss, Delayed puberty... |
OMIM:614162 |
| Congenital Contractural Arachnodactyly |
|
Congenital contracture, Camptodactyly of finger, Intestinal malrotation, Slender build, Tracheoes... |
ORPHA:115 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Congenital pyloric atresia, Neonatal death |
OMIM:612138 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... |
ORPHA:85446 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Anorexia, Short statur... |
ORPHA:49827 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Intractable diarrhea, Bloody diarrhea, Dry skin, Intrauterine growth retard... |
ORPHA:84064 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Intrauterine growth retardation, Neonatal death, Death in adolescence, ... |
OMIM:619751 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... |
OMIM:618620 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Feeding difficulties, Pallo... |
ORPHA:276556 |
| Hemophilia A |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... |
OMIM:306700 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Palpitations, Feeding difficulties, Pallor, Polyphagia, Syncope, Tachy... |
ORPHA:324575 |
| Miller-Dieker Syndrome |
|
Growth delay, Omphalocele |
ORPHA:531 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
| Triploidy |
|
Intestinal malrotation, Intrauterine growth retardation, Omphalocele, Macroglossia, Cleft palate |
ORPHA:3376 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Abdominal distention, Jejunoileal ulceration, Intestinal malrotation, Intrauterine growth retarda... |
ORPHA:436252 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematochezia, Vasculitis, Diarrhea, Hypertrophic cardiomyopathy, Intrauterine... |
OMIM:615846 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Intestinal malrotation, Gastroesophageal reflux, Omphalocele |
OMIM:618316 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Feeding difficulties, Pallo... |
ORPHA:276575 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Diastasis recti,... |
ORPHA:254528 |
| American Trypanosomiasis |
|
Diarrhea, Cardiomyopathy, Congestive heart failure, Pallor, Aganglionic megacolon, Arrhythmia, Ac... |
ORPHA:3386 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Auriculocondylar Syndrome 2B |
|
Failure to thrive, Postnatal growth retardation, Chronic constipation, Omphalocele, Feeding diffi... |
OMIM:620458 |
| Martinez-Frias Syndrome |
|
Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Tracheoesophageal fistu... |
OMIM:601346 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Feeding difficulties, Pallo... |
ORPHA:276580 |
| Hereditary Folate Malabsorption |
|
Diarrhea, Gastroesophageal reflux, Failure to thrive, Nausea and vomiting, Pallor, Anorexia, Glos... |
ORPHA:90045 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Skin ulcer, Neoplasm of the liver, Neoplasm of the rectum, An... |
ORPHA:424016 |
| Myopathic Ehlers-Danlos Syndrome |
|
High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Congenital contrac... |
ORPHA:536516 |
| Mitchell-Riley Syndrome |
|
Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Intrauterine growt... |
OMIM:615710 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Acute Myelomonocytic Leukemia |
|
Weight loss, Abnormal bleeding, Pallor |
ORPHA:517 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Intrauterine growth retardation, Redundant neck skin, Feeding difficulties in infancy... |
OMIM:301056 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Erythema, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, Hi... |
OMIM:147060 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Intr... |
OMIM:608104 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Neonatal death |
OMIM:615524 |
| Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Tachycardia, Pallor, Agitation |
ORPHA:276608 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Multiple gastric polyps, Abdomi... |
OMIM:175200 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Vomiting, Pallor |
ORPHA:71518 |
| Mpi-Cdg |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive, D... |
ORPHA:79319 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti... |
OMIM:175050 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Failure to thrive, Intrauterine growth retardation, Inguinal herni... |
OMIM:247200 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Inguinal hernia, Male infertility |
OMIM:261550 |
| Fryns Syndrome |
|
Gastroesophageal reflux, Intestinal malrotation, Congenital diaphragmatic hernia, Aganglionic meg... |
ORPHA:2059 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c... |
OMIM:187300 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Aganglionic megacolon, ... |
OMIM:239300 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Oral cavity bleeding, Pallor, Melena, Short stature, Post-partum hemorrhage |
ORPHA:98870 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Gastroesophageal reflux, Umbilical hernia, Redundant skin, Inguina... |
OMIM:613177 |
| Familial Hypofibrinogenemia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:98881 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Kagami-Ogata Syndrome |
|
Postnatal growth retardation, Large for gestational age, Diastasis recti, Inguinal hernia, Hepato... |
ORPHA:254519 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Severe short-limb dwarfism, Omphalocele |
ORPHA:1263 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... |
OMIM:231200 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Intestinal atresia, Duodenal atresia |
ORPHA:3405 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... |
OMIM:301101 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int... |
ORPHA:44890 |
| Chromosome 10Q26 Deletion Syndrome |
|
Postnatal growth retardation, Aggressive behavior, Hyperactivity, Omphalocele, Short stature, Hig... |
OMIM:609625 |
| X-Linked Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Bruising susceptibility, Umbilical hernia, Inguinal hernia, Hernia, Shor... |
ORPHA:75497 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Abnorma... |
ORPHA:873 |
| Donnai-Barrow Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia |
OMIM:222448 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Omphalocele |
ORPHA:93267 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Gastrointest... |
OMIM:600376 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Myocardial infarction, Peritonitis, Abdomin... |
ORPHA:90038 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Focal Dermal Hypoplasia |
|
Erythema, Gastroesophageal reflux, Camptodactyly of finger, Umbilical hernia, Abnormal dental ena... |
ORPHA:2092 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Nausea, Melena, Abdominal pai... |
ORPHA:319218 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Reduced progressive sperm motility, Duodenal atresia |
OMIM:619608 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Mednik Syndrome |
|
Erythema, Microcolon, Diarrhea, Volvulus, Death in childhood, Death in infancy, Jejunal atresia, ... |
OMIM:609313 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Dry skin, Diastasis recti, Omphalocele, Scaling skin, Short stature, Anal atresia, Small for gest... |
OMIM:618419 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hepatic failure, Small for gestational age, Growth delay, Third degree atriov... |
OMIM:619573 |
| Vacterl/Vater Association |
|
Anorectal anomaly, Intrauterine growth retardation, Congenital diaphragmatic hernia, Tracheoesoph... |
ORPHA:887 |
| Sepsis In Premature Infants |
|
Hypotension, Diarrhea, Vomiting, Abnormal bleeding, Decreased liver function, Functional abnormal... |
ORPHA:90051 |
| Fanconi Anemia, Complementation Group W |
|
Intrauterine growth retardation, Growth delay, Duodenal atresia |
OMIM:617784 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess |
OMIM:620534 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
| Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Intrauterine growth retardation, Death in infancy, Tracheoesophageal fistula, Esoph... |
OMIM:300514 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Joint contracture of the hand, Umbilical hernia, Intestinal lymphangi... |
OMIM:235510 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Umbilical hernia, Intestinal malrotation, Pulmonic ... |
OMIM:115470 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... |
OMIM:300048 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:613101 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:94080 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia |
OMIM:603471 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Short stature, Duodenal atresia |
ORPHA:3004 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Bifid uvula, Hepatic failure, Intractable diarrhea, Failure to thrive, Intr... |
OMIM:222470 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Celiac disease, Delayed puberty, Postnatal growth retardation |
OMIM:618985 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate |
OMIM:601357 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:617960 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... |
ORPHA:2924 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Failure to thrive, Death in childhood, Short stature, Fat malabsorption, Hepatocellular... |
OMIM:601847 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hamartoma of tongue, Intestinal malrotation, Intrauterine growth retardation, Median cleft palate... |
OMIM:269860 |
| Cystic Fibrosis |
|
Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Ileus, Rectal prolapse, Steatorrh... |
OMIM:219700 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Diarrhea, Nausea and vomiting, Pallor |
ORPHA:29822 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... |
ORPHA:85450 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer |
ORPHA:3217 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Congestive heart failure, Villous atrophy, Renovascular hypertension, Abnormal intestin... |
ORPHA:391487 |
| Trisomy 1Q |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Omphalocele, Anal atresia, Cleft palate |
ORPHA:261344 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor, Failure to thrive, Anorexia |
OMIM:611590 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607748 |
| Trisomy 18 |
|
Narrow palate, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragmatic... |
ORPHA:3380 |
| Cloacal Exstrophy |
|
Intestinal duplication, Intestinal malrotation, Cloacal exstrophy, Omphalocele, Anal atresia, Bla... |
ORPHA:93929 |
| C Syndrome |
|
Failure to thrive, Cutis laxa, Omphalocele, Short stature, High palate |
OMIM:211750 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia, Inguinal hernia |
OMIM:235760 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis |
ORPHA:1646 |
| Leishmaniasis |
|
Abnormal bleeding, Skin ulcer, Pallor, Weight loss, Anorexia |
ORPHA:507 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Fryns Syndrome |
|
Joint contracture of the hand, Meckel diverticulum, Intestinal malrotation, Large for gestational... |
OMIM:229850 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Hemoglobin D Disease |
|
Abdominal pain, Pallor |
ORPHA:90039 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Failure to thrive, Pallor, Delayed puberty, High palate, Growth delay |
OMIM:600462 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Rheumatic Fever |
|
Epistaxis, Erythema, Nausea and vomiting, Pallor, Arrhythmia, Aplasia/Hypoplasia of the abdominal... |
ORPHA:3099 |
| Carpenter Syndrome 1 |
|
Joint contracture of the hand, Umbilical hernia, Obesity, Omphalocele, Camptodactyly, High palate... |
OMIM:201000 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Absent uvula, Ventral hernia, Omphalocele, Camptodactyly, Short stature |
OMIM:618529 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Rhizomelia, Stillbirth, Omphalocele, Protuberant abdomen, Camptoda... |
OMIM:228520 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic failure, Villous atrophy, Portal hypertension, Abdominal pain, Small for gestational age |
ORPHA:567983 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Intrauterine growth retardation, Retinal telangiectasia, Portal hype... |
OMIM:617341 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Omphalocele |
OMIM:200995 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619528 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor, Restlessness, Dysphagia, Agitation |
ORPHA:13 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Villous atrophy, Bowel irritabilit... |
OMIM:619381 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Immunodeficiency 40 |
|
Focal active colitis, Chronic diarrhea, Rectal fistula, Intermittent diarrhea, Growth delay |
OMIM:616433 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Erythema, Recurrent aphthous stomatitis, Intes... |
ORPHA:343 |
| Alg1-Cdg |
|
Protein-losing enteropathy, Cardiomyopathy, Decreased liver function, Abnormality of the gastroin... |
ORPHA:79327 |
| Alternating Hemiplegia Of Childhood |
|
Diarrhea, Abdominal distention, Failure to thrive, Oral-pharyngeal dysphagia, Vomiting, Cardiomyo... |
ORPHA:2131 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Portal hypertension, Petechiae, Pallor, Ecchymosis, Cachexia, Anorexia, Purpura |
ORPHA:824 |
| Alg6-Cdg |
|
Protein-losing enteropathy, Macroglossia, Failure to thrive, Feeding difficulties |
ORPHA:79320 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding, Failure to thrive |
ORPHA:79301 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
| Alg9-Cdg |
|
Bifid uvula, Rhizomelia, Gastroesophageal reflux, Diarrhea, Vomiting, Tricuspid regurgitation, Vi... |
ORPHA:79328 |
| Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Joint contracture of the hand, Gastroesophageal reflux, Anal stenosis, Failure to th... |
OMIM:300373 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Tangier Disease |
|
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Esophagitis, Pe... |
ORPHA:2538 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... |
OMIM:615947 |
| Opitz Gbbb Syndrome |
|
Umbilical hernia, Ankyloglossia, Inguinal hernia, Congenital diaphragmatic hernia, Ectopic anus, ... |
ORPHA:2745 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Submucous cleft hard palate, Attention deficit hyperactivity disorder, Tracheoesophageal fistula,... |
OMIM:619227 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
| Imerslund-Gräsbeck Syndrome |
|
Vomiting, Abnormal bleeding, Failure to thrive, Pallor, Weight loss, Constipation, Tachycardia, G... |
ORPHA:35858 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
| Developmental And Epileptic Encephalopathy 89 |
|
Death in childhood, Neonatal death, Omphalocele, Flexion contracture, Cleft palate |
OMIM:619124 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Hamartoma of tongue, Omphalocele, Stillbirth, Bifid tongue, Anal atresia, Cleft palat... |
OMIM:616300 |
| Burkitt Lymphoma |
|
Abdominal pain, Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction |
ORPHA:543 |
| Waldenström Macroglobulinemia |
|
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Congestive heart... |
ORPHA:33226 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Isolated Anencephaly |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Dubowitz Syndrome |
|
Anal stenosis, Postnatal growth retardation, Intrauterine growth retardation, Malabsorption, Dry ... |
ORPHA:235 |
| Chromosome 9P Deletion Syndrome |
|
High, narrow palate, Inguinal hernia, Omphalocele, High palate, Heart murmur, Narrow palate |
OMIM:158170 |
| Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
| Systemic Sclerosis |
|
Intestinal bleeding, Digital ulcer, Telangiectasia, Dysphagia, Bowel incontinence, Abnormal large... |
ORPHA:90291 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Azoospermia, Male infertility |
OMIM:619145 |
| Cystic Fibrosis |
|
Gastroesophageal reflux, Decreased body mass index, Failure to thrive, Meconium ileus, Exocrine p... |
ORPHA:586 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... |
ORPHA:131 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:620603 |
| Duodenal Atresia |
|
Duodenal atresia |
ORPHA:1203 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia, Omphalocele |
OMIM:263210 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Meckel diverticulum, Right-to-left shunt, Intestinal malrot... |
OMIM:265380 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... |
OMIM:618462 |
| Prolactinoma |
|
Irregular menstruation, Hypotension, Vomiting, Male hypogonadism, Abnormality of the menstrual cy... |
ORPHA:2965 |
| Congenital Factor Xi Deficiency |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... |
ORPHA:329 |
| Evans Syndrome |
|
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope |
ORPHA:1959 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Nausea and vomiting, Pallor, Weight loss, Intracranial hemorrhage, Prolo... |
ORPHA:3226 |
| Iniencephaly |
|
Rhizomelia, Congenital diaphragmatic hernia, Omphalocele, Anal atresia, Arthrogryposis multiplex ... |
ORPHA:63259 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:619013 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis, Neonatal death |
OMIM:619817 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Omphalocele |
OMIM:248450 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Malabsor... |
ORPHA:440437 |
| Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Down Syndrome |
|
Narrow palate, Macroglossia, Gastroesophageal reflux, Umbilical hernia, Obesity, Decreased fertil... |
ORPHA:870 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
| Craniorachischisis |
|
Anal atresia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63260 |
| Codas Syndrome |
|
Gastroesophageal reflux, Enamel hypoplasia, Omphalocele, Short stature, Anal atresia, Rectovagina... |
OMIM:600373 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia |
OMIM:604367 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Anteriorly placed anus, Umbilical hernia, Death in childhood, Decreased body w... |
OMIM:602535 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting, Large for gestational age, Pallor, Increased body weight, Tachycardia, Agitation |
ORPHA:263455 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavior, Attentio... |
OMIM:618846 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Erythema, Dilated cardiomyopathy, Failure to thrive, Abnormal dental enamel... |
ORPHA:2556 |
| Cog8-Cdg |
|
Prolonged prothrombin time, Protein-losing enteropathy, Failure to thrive, Spontaneous hematomas |
ORPHA:95428 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Umbilical hernia, Feeding difficulties, Inguinal hernia, Congenital diaphragmatic hernia, Pulmona... |
OMIM:618454 |
| Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... |
ORPHA:169802 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Multiple lipomas, Primary amenorrhea, Short stature, High palate, Growth delay |
OMIM:617675 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Inguinal hernia, Pulmonary arterial hypertension, Omphalocele, Flexion contractu... |
OMIM:608149 |
| Abcd Syndrome |
|
Aganglionic megacolon, Large for gestational age, Total intestinal aganglionosis, Neonatal death |
OMIM:600501 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec... |
ORPHA:480536 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Retinitis Pigmentosa 51 |
|
Obesity, Pallor |
OMIM:613464 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Diarrhea, Hypotension, Pallor, Nausea, Weight loss, Syncope, Abdominal pain, Tachyc... |
ORPHA:98849 |
| Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Diarrhea, Vomiting, Subconjunctival hemorrhage, Shock, Palpitations, Capi... |
ORPHA:340 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Diarrhea, Vomiting, Pallor, Oral aversion, Weight loss, Anorexia, Hypertension, Agit... |
ORPHA:134 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Intestinal malrotation, Omphalocele, Anal atresia, Cleft palate |
ORPHA:2166 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Rhizomelia, Duodenal atresia, Intrauterine growth retardation, Severe intra... |
OMIM:614114 |
| Otopalatodigital Syndrome, Type I |
|
Short stature, Cleft palate, Omphalocele |
OMIM:311300 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
| Lethal Congenital Contracture Syndrome 10 |
|
Intrauterine growth retardation, Omphalocele, High palate, Macroglossia, Narrow palate |
OMIM:617022 |
| Feingold Syndrome |
|
Short stature, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
| Non-Functioning Pituitary Adenoma |
|
Irregular menstruation, Hypotension, Vomiting, Male hypogonadism, Abnormality of the menstrual cy... |
ORPHA:91349 |
| Stromme Syndrome |
|
Intestinal malrotation, Jejunal atresia, Stillbirth, Duodenal atresia, Cleft palate |
OMIM:243605 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Growth delay, Pallor |
OMIM:615631 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gastroparesis, Megaduo... |
OMIM:611376 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Dominant Beta-Thalassemia |
|
Diarrhea, Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Pallor, High-output c... |
ORPHA:231226 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Vomiting, Failure to thrive, Postnatal growth retardation, Recurrent aphthous stomatiti... |
OMIM:212750 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Diarrhea, Nausea and vomiting, Anorexia, Abdominal pain, Tachycardia, Purpura,... |
ORPHA:99827 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| C Syndrome |
|
Failure to thrive in infancy, Redundant skin, Congenital diaphragmatic hernia, Death in infancy, ... |
ORPHA:1308 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
| Shprintzen Omphalocele Syndrome |
|
Short stature, Anal atresia, Omphalocele, Decreased body weight |
OMIM:182210 |
| Classical Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Cigarette-paper scars, Vomiting, Prolonged bleeding time, Umbilical hern... |
ORPHA:287 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatic failure, Failure to thrive, Acute hepatic failure, Hypertrop... |
OMIM:276700 |
| Dravet Syndrome |
|
Pallor, Obsessive-compulsive trait, Impulsivity |
ORPHA:33069 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Chondrocalcinosis, Gastroesophageal reflux, Abnormal atr... |
ORPHA:732 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Nausea and vomiting, Decreased fertility, Arrhythmia, Rectal prolapse, High, narrow palate, Menom... |
ORPHA:285 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Gastroesophageal reflux, Feeding difficulties in infancy, Omphalocele, Anal atresia, Chronic diar... |
ORPHA:3164 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
| Fibrochondrogenesis |
|
Short stature, Cleft palate, Omphalocele, Camptodactyly of finger |
ORPHA:2021 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... |
ORPHA:679 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Oeis Complex |
|
Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Cloacal exstrophy, Omphalocele,... |
OMIM:258040 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck |
ORPHA:163961 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... |
ORPHA:158057 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Diarrhea, Failure to thrive, Short stature, Fat malabsorption |
OMIM:211600 |
| Multiple Endocrine Neoplasia Type 1 |
|
Peptic ulcer, Gastroesophageal reflux, Diarrhea, Vomiting, Shortened QT interval, Impotence, Anor... |
ORPHA:652 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Pallor, Skin ulcer |
ORPHA:848 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal in... |
ORPHA:544482 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Anteriorly placed anus, Tricuspid regurgitation, Short stature, Omphalocele, Camptodactyly, Bifid... |
OMIM:616894 |
| Chylomicron Retention Disease |
|
Vomiting, Growth delay, Failure to thrive, Diarrhea, Abdominal distention, Steatorrhea, Fat malab... |
ORPHA:71 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Gastrointestinal dysmotility, Growth delay, Duodenal atresia |
OMIM:617798 |
| Serkal Syndrome |
|
Malrotation of small bowel, Growth delay, Congenital diaphragmatic hernia, Pulmonic stenosis |
ORPHA:139466 |
| Leprechaunism |
|
Megarectum, Abdominal distention, Failure to thrive, Hypertrophic cardiomyopathy, Postnatal growt... |
ORPHA:508 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage |
OMIM:602248 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Ileal atresia, Streak ovary, Jejunal atresia, Attention deficit hyperactivity disorder, Chordee, ... |
OMIM:618820 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Gastroesophageal reflux, ... |
ORPHA:464311 |
| Pseudotrisomy 13 Syndrome |
|
Anal atresia, Median cleft palate, Omphalocele |
OMIM:264480 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Duodenal atresia, Postnatal growth retardation, Intrauterine growth retardation, Feeding difficul... |
OMIM:257300 |
| Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... |
ORPHA:169805 |
| Holoprosencephaly |
|
Gastroesophageal reflux, Failure to thrive in infancy, Median cleft palate, Congenital diaphragma... |
ORPHA:2162 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Dry skin, Intrauterine growth retardation, Inguinal hernia, Anal atresia, Omphaloc... |
OMIM:263650 |
| Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Pallor, Failure to thrive |
ORPHA:99931 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Feeding difficulties |
OMIM:618154 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep... |
ORPHA:99828 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart fai... |
ORPHA:363705 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... |
ORPHA:903 |
| Beta-Thalassemia Major |
|
Diarrhea, Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Pallor, High-output c... |
ORPHA:231214 |
| Pancreatic Colipase Deficiency |
|
Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea |
ORPHA:309108 |
| Toxic Epidermal Necrolysis |
|
Erythema, Gastrointestinal hemorrhage, Polydipsia, Skin ulcer, Acute hepatic failure, Malabsorpti... |
ORPHA:537 |
| Rift Valley Fever |
|
Gingival bleeding, Melena, Abnormal bleeding, Hematemesis, Anorexia, Retinal hemorrhage, Miscarriage |
ORPHA:319251 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Vomiting, Failure to thrive... |
ORPHA:464306 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Cleft palate, Omphalocele |
ORPHA:2736 |
| 3Mc Syndrome 1 |
|
Postnatal growth retardation, Diastasis recti, Conjunctival telangiectasia, Abnormality of the ab... |
OMIM:257920 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Intestinal malrotation, Intrauterine growth retardation, Inguinal hernia, ... |
ORPHA:2308 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... |
ORPHA:274 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis |
OMIM:615190 |
| Fumarase Deficiency |
|
Hepatic failure, Failure to thrive, Pallor, Reduced subcutaneous adipose tissue, High palate, Nec... |
OMIM:606812 |
| Exstrophy-Epispadias Complex |
|
Anal stenosis, Abdominal wall defect, Male sexual dysfunction, Female sexual dysfunction, Cystoce... |
ORPHA:322 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Omphalocele |
OMIM:601927 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:276621 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Intrauterine growth retardation, Duodenal atresia, Failure to thrive |
OMIM:603467 |
| Autoerythrocyte Sensitization Syndrome |
|
Self-injurious behavior, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Bruising sus... |
ORPHA:324636 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia, Growth delay, Pallor |
OMIM:615234 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Epistaxis, Inflammation of the large intestine, Diarrhea, Prolonged bleeding t... |
OMIM:301000 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele |
OMIM:617895 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Umbilical hernia, Dry skin, Inguinal hernia, Corneal neovascularization, Neonatal death, Hyperten... |
OMIM:308205 |
| Idiopathic Hypereosinophilic Syndrome |
|
Vomiting, Pulmonary embolism, Failure to thrive, Dilated cardiomyopathy, Congestive heart failure... |
ORPHA:3260 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
| Sheehan Syndrome |
|
Dry skin, Obesity, Palpitations, Decreased female libido, Pallor, Amenorrhea, Constipation, Oligo... |
ORPHA:91355 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Palpitations, Abnormal gastrointestinal tract morpho... |
ORPHA:2847 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Omphalocele,... |
ORPHA:1692 |
| Cold Agglutinin Disease |
|
Diarrhea, Nausea and vomiting, Pallor |
ORPHA:56425 |
| Beta-Thalassemia Intermedia |
|
Skin ulcer, Decreased liver function, Hypogonadism, Pallor, High-output congestive heart failure,... |
ORPHA:231222 |
| Microform Holoprosencephaly |
|
Short stature, Intrauterine growth retardation, Duodenal atresia, Cleft palate |
ORPHA:280200 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ... |
ORPHA:2729 |
| Coffin-Lowry Syndrome |
|
Inguinal hernia, Uterine prolapse, Decreased body weight, Mitral regurgitation, Cutis laxa, High ... |
OMIM:303600 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Weight loss, Decreased fertility in females, Female hypogonadism, Decreased ... |
ORPHA:91347 |
| Immunodeficiency 17 |
|
Anoperineal fistula, Failure to thrive, Death in childhood, Recurrent gastroenteritis, Death in i... |
OMIM:615607 |
| Typhoid |
|
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Arrhythmia, Constipation, Cardi... |
ORPHA:99745 |
| Teebi Hypertelorism Syndrome 1 |
|
Short stature, Omphalocele |
OMIM:145420 |
| Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Elbow flexion contracture, Lacunar stroke, Short stature, Macroglossi... |
OMIM:618440 |
| Panhypophysitis |
|
Polydipsia, Decreased male libido, Decreased female libido, Pallor, Amenorrhea, Orthostatic hypot... |
ORPHA:95513 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Failure to thrive, Intrauterine growth retardation, Short stature, Feeding d... |
OMIM:616395 |
| Melnick-Needles Syndrome |
|
Failure to thrive, Pulmonary arterial hypertension, Omphalocele, Stillbirth, Cleft palate |
OMIM:309350 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Intrauterine growth retardation, Pallor, Decreased body weight |
OMIM:609053 |
| Charge Syndrome |
|
Gastroesophageal reflux, Umbilical hernia, Postnatal growth retardation, Intrauterine growth reta... |
ORPHA:138 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... |
ORPHA:447877 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... |
OMIM:620356 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Postnatal growth retardation, Hepatoblastoma, Hypertrophic cardiomyopathy, Diastasis recti, Redun... |
ORPHA:96334 |
| Caroli Syndrome |
|
Hepatic failure, Abnormal bleeding, Portal hypertension, Abdominal rigidity, Hematemesis, Cholang... |
ORPHA:480520 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Gastroesophageal reflux, Failure to thrive, Obesity, Intrauterine growth retardation, Redundant n... |
OMIM:617157 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Salivary gland neoplasm, Nausea... |
ORPHA:144 |
| Stevens-Johnson Syndrome |
|
Erythema, Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Weig... |
ORPHA:36426 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Posteriorly placed anus, Mitral stenosis, Omphalocele, Anal atresia, Duodenal ... |
OMIM:306955 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Diarrhea, Failure to thrive, Acholic stools, Steatorrhea, Fat malabsorption |
OMIM:607765 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... |
ORPHA:220460 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Inguinal hernia, Death in infancy, Redundant neck sk... |
OMIM:235255 |
| Melnick-Needles Syndrome |
|
Short stature, Omphalocele |
ORPHA:2484 |
| Classic Galactosemia |
|
Hepatic failure, Vomiting, Diarrhea, Male infertility, Attention deficit hyperactivity disorder, ... |
ORPHA:79239 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Beckwith-Wiedemann Syndrome |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Exocrine pancreatic insufficiency, Obesity, Large ... |
ORPHA:116 |
| Otopalatodigital Syndrome Type 2 |
|
Failure to thrive, Camptodactyly of finger, Omphalocele, Glossoptosis, Cleft palate |
ORPHA:90652 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98855 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
| Malakoplakia |
|
Diarrhea, Abnormal bleeding, Skin ulcer, Abnormality of the menstrual cycle, Neoplasm of the colo... |
ORPHA:556 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... |
ORPHA:71272 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tachycardia, Abno... |
ORPHA:85443 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
| Thoracoabdominal Syndrome |
|
Ventral hernia, Cleft palate, Congenital diaphragmatic hernia, Omphalocele |
OMIM:313850 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
| Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Elbow flexion contracture, Failure to thrive in infancy, Obesi... |
ORPHA:96149 |
| Klippel-Trénaunay Syndrome |
|
Cellulitis, Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormalit... |
ORPHA:90308 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Diarrhea, Dilated cardiomyopathy, Pallor, Weight loss, Reye syndrome-like episodes, ... |
ORPHA:20 |
| Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Short stature,... |
ORPHA:391641 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor, Pericarditis, Congestive heart failure |
ORPHA:163596 |
| Tarp Syndrome |
|
Hepatic failure, Meckel diverticulum, Failure to thrive, Subdural hemorrhage, Intrauterine growth... |
OMIM:311900 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Hypertension, Omphalocele |
ORPHA:371428 |
| Williams-Beuren Syndrome |
|
Obsessive-compulsive trait, Mitral regurgitation, Chronic constipation, Feeding difficulties in i... |
OMIM:194050 |
| Williams Syndrome |
|
Death in early adulthood, Nausea and vomiting, Mitral regurgitation, Overfriendliness, Abdominal ... |
ORPHA:904 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Decreased liver function, Malabsorption, Port... |
ORPHA:98850 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Feeding difficulties |
OMIM:613839 |
| Macrophage Activation Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... |
ORPHA:158061 |
| Ablepharon-Macrostomia Syndrome |
|
Anteriorly placed anus, Premature skin wrinkling, Dry skin, Redundant skin, Ventral hernia, Ompha... |
OMIM:200110 |
| Constricting Bands, Congenital |
|
Cleft palate, Omphalocele, Bladder exstrophy, Gastroschisis |
OMIM:217100 |
| Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Erythema, Skin ulcer, Congestive he... |
ORPHA:727 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Postnatal growth retardation, Inguinal hernia, Redun... |
ORPHA:1655 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Cardiomyopathy, Bundle branch bloc... |
ORPHA:93672 |
| Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
| Degcags Syndrome |
|
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Nasogastric tube feeding, ... |
OMIM:619488 |
| Ppoma |
|
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Subcutaneous lipoma, Hypoactive bowe... |
ORPHA:97278 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Pallor, Congestive heart failure |
ORPHA:75564 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Hypotension, Malabsorption, Cachexia, Anorexia... |
ORPHA:3452 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98853 |
| Simpson-Golabi-Behmel Syndrome |
|
High, narrow palate, Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Bundle branch blo... |
ORPHA:373 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Feeding difficulties |
ORPHA:439218 |
| Pentalogy Of Cantrell |
|
Cleft palate, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:1335 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Vomiting, Atrial flutter, Failure to thri... |
ORPHA:137675 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Ankle flexion contracture, Self-injurious behavior, Camptodactyly of finger... |
ORPHA:468631 |
| Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Skin ulcer, Gastrointestinal infarctions, Petechiae, Abd... |
ORPHA:91138 |
| Mucoepithelial Dysplasia, Hereditary |
|
Furrowed tongue, Chronic diarrhea, Corneal neovascularization, Melena |
OMIM:158310 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Congestive heart failure |
ORPHA:90037 |
| Adenohypophysitis |
|
Decreased male libido, Decreased female libido, Pallor, Amenorrhea, Orthostatic hypotension, Naus... |
ORPHA:95512 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Small bowel diverticula, Congestive heart failure, Intrauterine growth retardation, Supravalvular... |
ORPHA:90349 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Diarrhea, Abnormal tongue morphology, Ganglioneuromatosis, Palpitations, Pal... |
ORPHA:653 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Multiple lipomas, Acholic ... |
ORPHA:1414 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hyperuricemia, Hypertriglyceridemia |
ORPHA:79083 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:29072 |
| Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
| Fanconi Anemia, Complementation Group D2 |
|
Bruising susceptibility, Attention deficit hyperactivity disorder, Tracheoesophageal fistula, Eso... |
OMIM:227646 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ... |
ORPHA:97280 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Gastric varix, Prolonged pro... |
ORPHA:64743 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Gastric ulcer, Esophageal ulceration |
OMIM:618372 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Scaling skin, Abdomin... |
ORPHA:79456 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Intestinal malrotation, Intrauterine growth retardation, Omphalocele, An... |
OMIM:249000 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Severe short stature, Erythema, Failure to thrive, Camptodactyly of finger, Abnormal dental ename... |
ORPHA:2273 |
| Charge Syndrome |
|
Anal stenosis, Umbilical hernia, Postnatal growth retardation, Feeding difficulties, Self-mutilat... |
OMIM:214800 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Intrauterine growth retardation, Stomach cancer, Intestinal polyposis, Shor... |
ORPHA:1052 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... |
OMIM:187900 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Striae distensa... |
ORPHA:758 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic diarrhea, Skin ulcer, Rectal abscess |
OMIM:116920 |
| Ablepharon Macrostomia Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Dry skin, Redundant skin, Excessive wrinkled skin, Omp... |
ORPHA:920 |
| Focal Dermal Hypoplasia |
|
Anteriorly placed anus, Umbilical hernia, Intestinal malrotation, Diastasis recti, Inguinal herni... |
OMIM:305600 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Subcutaneous lipoma, Nausea and vomi... |
ORPHA:97283 |
| Bloom Syndrome |
|
Gastroesophageal reflux, Neoplasm of the colon, Intrauterine growth retardation, Stomach cancer, ... |
ORPHA:125 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Male hypogonadism, Polydipsia, Cardiomyopathy, Hypogonadism, Malabso... |
ORPHA:3463 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Diarrhea, Pallor, Death in childhood, Episodic vomiting, Cardiac arrest |
OMIM:246450 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... |
ORPHA:141127 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Abdominal wall defect, Umbilical hernia, Congestive heart failure, Abnorma... |
ORPHA:1686 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Bifid uvula, Severe short stature, Failure to thrive, Camptodactyly of finge... |
ORPHA:2753 |
| Grfoma |
|
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Subcutaneous lipoma, Hypoactive bowe... |
ORPHA:97261 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:540 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Anal atresia, Rectal atresia, Abdominal distention |
OMIM:617666 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
| Diamond-Blackfan Anemia 1 |
|
Tricuspid stenosis, Failure to thrive, Congestive heart failure, Intrauterine growth retardation,... |
OMIM:105650 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia |
ORPHA:230839 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Failure to thrive, Rectal abscess |
OMIM:601495 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Vomiting, Diarrhea, Pallor, Reye syndrome-like episodes, Tachycardia |
ORPHA:348 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele |
ORPHA:3329 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Short stature, Intrauterine growth retardation, Weight loss, Pallor |
OMIM:301310 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Skin ulcer, Pallor, Abdominal distention, Abdominal pain, Growth delay |
ORPHA:822 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor, Failure to thrive, Protracted diarrhea |
ORPHA:331206 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Pallor |
ORPHA:64280 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
| Metachromatic Leukodystrophy |
|
Addictive behavior, Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal du... |
ORPHA:512 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Azoospermia, Growth delay, Pallor |
ORPHA:300298 |
| Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Male infertility, Anemic pallor, Short stature, Small for gestational ag... |
OMIM:227650 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral ischemia, Intr... |
ORPHA:394 |
| Fraser Syndrome |
|
Anal stenosis, Umbilical hernia, Anorectal anomaly, Death in infancy, Ectopic anus, Anal atresia,... |
ORPHA:2052 |
| Pituitary Apoplexy |
|
Impotence, Hypotension, Nausea and vomiting, Pallor, Oligomenorrhea, Hypertension, Hypergonadotro... |
ORPHA:95613 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Vomiting, Failure to thrive, Pallor, Feeding difficulties in infancy, Pulmonary arte... |
OMIM:277400 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage |
OMIM:263300 |
| Immunoglobulin A Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Erythema, Bruising susceptibility, Skin ulcer, Gastroint... |
ORPHA:761 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes... |
ORPHA:261529 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer, Chronic constipation |
OMIM:618333 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Gastrointestinal hemorrhage, Oral leukoplakia, Dry skin, Intrauterine growth retardation, Short s... |
OMIM:613990 |
| Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyceridemia |
ORPHA:444490 |
| Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Furrowed tongue, Intrauterine growth retardation, Attention deficit hype... |
OMIM:616975 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea |
OMIM:142680 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Microcolon, Abdominal distention |
OMIM:619362 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Pallor, Congestive heart failure |
ORPHA:90033 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Attention deficit hyperactivity disorder, Oligozoospermia, Male infertility |
ORPHA:3000 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
| Pagod Syndrome |
|
Congenital diaphragmatic hernia, Death in infancy, Arrhythmia, Omphalocele, Short stature, Sudden... |
ORPHA:991 |
| Werner Syndrome |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:277700 |
| Polycythemia Vera |
|
Gingival bleeding, Early satiety, Gastrointestinal hemorrhage, Epistaxis, Pulmonary embolism, Bru... |
ORPHA:729 |
| Feingold Syndrome 1 |
|
Tricuspid stenosis, Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointesti... |
OMIM:164280 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
| Scedosporiosis |
|
Abnormal jejunum morphology, Pericarditis |
ORPHA:449280 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
| Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Abdominal pa... |
ORPHA:2137 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Congenital diaphragmatic hernia, Anal atresia, Hypertrophic cardiomyopathy... |
OMIM:601803 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Pulmonary arterial hypertens... |
ORPHA:974 |
| Simple Cryoglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Acral ulceration, Hypertension... |
ORPHA:91139 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, ... |
ORPHA:2953 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Gastritis, Pulmonary arterial h... |
ORPHA:809 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
OMIM:613327 |
| Spondyloocular Syndrome |
|
Short stature, Duodenal ulcer, Decreased body weight |
OMIM:605822 |
| Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibil... |
ORPHA:79430 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Disproportionate short-limb short stature, Ectopic anus, Esophageal atresia, Omphalocele, Abdomin... |
ORPHA:93271 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia |
ORPHA:369 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis |
OMIM:617100 |
| Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Skin ulcer, Recurrent intrapulmonary hemorrha... |
ORPHA:900 |
| Menkes Disease |
|
Atypical scarring of skin, Chondrocalcinosis, Gastrointestinal hemorrhage, Spontaneous hematomas,... |
ORPHA:565 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Vomiting, Small bowel diverticula, Congestive heart failure, Premature skin... |
ORPHA:90348 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Gastrointestinal stroma tumor, Arrhyt... |
ORPHA:139411 |
| Fanconi Anemia, Complementation Group C |
|
Bruising susceptibility, Intrauterine growth retardation, Anemic pallor, Short stature, Flexion c... |
OMIM:227645 |
| Neuroblastoma |
|
Abnormal bleeding, Anemic pallor, Weight loss, Abdominal distention, Chronic diarrhea, Hypertension |
ORPHA:635 |
| Letterer-Siwe Disease |
|
Stomatitis, Pallor, Abdominal distention |
OMIM:246400 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia |
ORPHA:289522 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
| Diamond-Blackfan Anemia |
|
Growth delay, Cleft soft palate, Pallor, Adenocarcinoma of the colon, High palate, Short stature,... |
ORPHA:124 |
| Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility |
OMIM:620103 |
| Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
| Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor, Short stature, Small for gestational age, Hypergonadotrop... |
OMIM:600901 |
| Primary Ciliary Dyskinesia |
|
Intestinal malrotation, Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
| Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Umbilical hernia, Postnatal growth retardation, Omphalocele, Stillbirth, Short... |
OMIM:304120 |
| Sacral Agenesis With Vertebral Anomalies |
|
Anal atresia, Persistent cloaca, Neonatal death |
OMIM:615709 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Holoprosencephaly 7 |
|
Median cleft palate, Bilateral cleft palate, Unilateral cleft palate, Omphalocele, Cleft palate |
OMIM:610828 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Anemic pallor, Palpitations, Abnormal bleeding |
ORPHA:86839 |
| Hydrolethalus Syndrome 1 |
|
Intrauterine growth retardation, Cleft palate, Omphalocele, Stillbirth |
OMIM:236680 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h... |
OMIM:177850 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Bruising susceptibility, Umbilical hernia, Intestinal malrotation, Atrophic... |
OMIM:601776 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Coffin-Siris Syndrome 1 |
|
Umbilical hernia, Intestinal malrotation, Postnatal growth retardation, Intrauterine growth retar... |
OMIM:135900 |
| Incontinentia Pigmenti |
|
Erythema, Retinal hemorrhage, Pallor, Scarring, Short stature |
OMIM:308300 |
| Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:176270 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Neonatal death, Hematemesis, Hypertension, Esophageal varix |
OMIM:263200 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Beckwith-Wiedemann Syndrome |
|
Cardiomyopathy, Diastasis recti, Hepatoblastoma, Omphalocele, Macroglossia |
OMIM:130650 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:280365 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Aregenerative Anemia |
|
Abnormal bleeding, Bruising susceptibility, Pallor |
ORPHA:101096 |
| Gardner Syndrome |
|
Gastrointestinal carcinoma, Keloids, Adenomatous colonic polyposis, Ampulla of Vater carcinoma, D... |
ORPHA:79665 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Seckel Syndrome 10 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:617253 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Raynaud phenomenon... |
OMIM:192315 |
| Holoprosencephaly 13, X-Linked |
|
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Duodenal atresia, Clef... |
OMIM:301043 |
| Li-Fraumeni Syndrome |
|
Stomach cancer, Neoplasm of the rectum, Colorectal polyposis, Neoplasm of the gastrointestinal tr... |
ORPHA:524 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Gastrointestinal carcinoma, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Duodenal poly... |
ORPHA:247806 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Plague |
|
Inflammation of the large intestine, Diarrhea, Hypotension, Vomiting, Abnormal bleeding, Skin ulc... |
ORPHA:707 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Cervicitis |
ORPHA:722 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Intrauterine growth retardation, Duodenal atresia, Atrial reentry tachyca... |
OMIM:270100 |
| Familial Adenomatous Polyposis 1 |
|
Keloids, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gas... |
OMIM:175100 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Gastroesophageal reflux, Small for gestational age, Umbilical hernia, Tracheoesoph... |
OMIM:107480 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Vasculitis, Gastrointestinal hemorrhage, Petechiae |
OMIM:603909 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Dextrocardia |
|
Intestinal malrotation, T-wave inversion, Meckel diverticulum, Abnormal EKG |
ORPHA:1666 |
| 22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Anal atresia, Purpura, Bowel incontinence, Gastrointestinal hemo... |
ORPHA:567 |
| Mosaic Trisomy 16 |
|
Meckel diverticulum, Anteriorly placed anus, Intrauterine growth retardation, Gastrostomy tube fe... |
ORPHA:1708 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Rectal abscess |
OMIM:608203 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
| H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, Feeding difficulties in infancy,... |
ORPHA:280633 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
| Tarp Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Abnormal duodenum morphology, Glossoptosis, T... |
ORPHA:2886 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:158048 |
| Whim Syndrome |
|
Cellulitis, Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
OMIM:610717 |
| Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
| Alstrom Syndrome |
|
Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglycerid... |
OMIM:203800 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage, Growth delay, Polydipsia, Feeding diffic... |
ORPHA:731 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Joint contracture of the hand, Self-mutilation, Aganglionic megacolon, Aggre... |
OMIM:309800 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Abdominal pain, Pallor |
OMIM:300908 |
| Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:167 |
| Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Adenomatous colonic polyposis, Stomach cancer, Duodenal adenocarcin... |
ORPHA:733 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Intestinal bleeding, Duodenal polyposis, Hepatoblastoma, Adenomatous colonic polyposis, Desmoid t... |
ORPHA:261584 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Cellulitis, Rectal abscess |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Cellulitis, Rectal abscess |
OMIM:233710 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Cellulitis, Rectal abscess |
OMIM:233690 |
| Hereditary Hemorrhagic Telangiectasia |
|
Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, Esophageal varix, Gastrointe... |
ORPHA:774 |
| Fanconi Anemia |
|
Meckel diverticulum, Umbilical hernia, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Intrau... |
ORPHA:84 |
| Specc1L-Related Hypertelorism Syndrome |
|
Arrhythmia, Omphalocele, Umbilical hernia |
ORPHA:1519 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Re... |
ORPHA:247691 |
| Penile Agenesis |
|
Cloacal abnormality, Anal atresia, Tracheoesophageal fistula, Rectal fistula, Anorectal anomaly |
ORPHA:49 |
| Von Hippel-Lindau Disease |
|
Cardiomyopathy, Palpitations, Pallor, Arrhythmia, Myocarditis, Abdominal pain, Abnormal left vent... |
ORPHA:892 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
| Sacral Defect With Anterior Meningocele |
|
Sacral lipoma, Constipation, Rectal abscess |
OMIM:600145 |
| Behçet Disease |
|
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Recurrent apht... |
ORPHA:117 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Pachydermoperiostosis |
|
Peptic ulcer, Gastrointestinal hemorrhage, Malabsorption |
ORPHA:2796 |
| Glycerol Kinase Deficiency |
|
Hyperglycerolemia, Hypertriglyceridemia |
OMIM:307030 |
| Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98908 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Congestive heart failure, Arterial rupture,... |
OMIM:225400 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele |
ORPHA:3186 |
| Carney Complex |
|
Abnormal sperm motility, Bruising susceptibility, Congestive heart failure, Striae distensae, Dor... |
ORPHA:1359 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia... |
ORPHA:77293 |
| Liver Disease, Severe Congenital |
|
Dependency on parenteral nutrition, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiti... |
OMIM:619991 |
| Granulomatous Disease, Chronic, X-Linked |
|
Cellulitis, Rectal abscess |
OMIM:306400 |
| Viss Syndrome |
|
Cleft soft palate, Chronic constipation, Contracture of the proximal interphalangeal joint of the... |
OMIM:619472 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... |
ORPHA:157 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia |
ORPHA:254346 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Growth delay, Bruising susceptibility, Pallor |
ORPHA:667 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
| Noonan Syndrome 1 |
|
High, narrow palate, Abnormal bleeding, Bruising susceptibility, Male infertility, Failure to thr... |
OMIM:163950 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... |
ORPHA:228308 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Palmar telangiectasia, Lip telangiectasia, Raynaud phenomenon, Steat... |
OMIM:613471 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:619127 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Growth delay, Failure to thrive, Polydipsia, Failure to thrive in infancy, Exo... |
OMIM:219800 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Decreased HDL cholesterol concentration, H... |
OMIM:256040 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Infancy onset short-trunk short stature, Ex... |
ORPHA:508488 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:269700 |
| Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hyperaldosteronism, Paradoxical increased cortisol secretion on dexamethasone suppression test, H... |
ORPHA:189427 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
| Fraser Syndrome 1 |
|
Abnormal umbilicus morphology, Abnormal small intestine morphology, Abnormality of the anus, Clef... |
OMIM:219000 |
| Aromatase Deficiency |
|
Female infertility, Obesity, Eunuchoid habitus, Hypergonadotropic hypogonadism, Primary amenorrhe... |
ORPHA:91 |
| Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia |
ORPHA:1830 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Bruising suscept... |
ORPHA:90062 |
| Wolf-Hirschhorn Syndrome |
|
Malrotation of small bowel, Gastroesophageal reflux, Failure to thrive, Intrauterine growth retar... |
OMIM:194190 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Vomiting, Failure to thrive, Malnutrition, Nausea, Abdominal pain |
OMIM:229600 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia |
OMIM:608612 |
| Bardet-Biedl Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
ORPHA:110 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
| Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Oligozoospermia, Male infertility |
ORPHA:48 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Calcinosis |
ORPHA:90154 |
| Goodpasture Syndrome |
|
Pulmonary hemorrhage, Weight loss, Pallor |
OMIM:233450 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
| Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Lymphangioleiomyomatosis |
|
Abdominal pain, Gastrointestinal hemorrhage, Shagreen patch |
ORPHA:538 |
| Genitopatellar Syndrome |
|
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Knee flexion contracture, Hip ... |
OMIM:606170 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90153 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Tricuspid regurgitation, Pallor, Mitral regurgitation, Pulmonary arter... |
ORPHA:99125 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
| Fabry Disease |
|
Hyperlipidemia, Abnormal circulating lipid concentration |
ORPHA:324 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia |
ORPHA:293987 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
ORPHA:3464 |
| Alström Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia |
ORPHA:64 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
