| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal inte... |
OMIM:251850 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Chori... |
OMIM:277175 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposi... |
ORPHA:329971 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, I... |
OMIM:243150 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... |
ORPHA:401911 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Dysphagia, We... |
ORPHA:2070 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Growth delay, Colitis, Crohn's disease |
OMIM:613148 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Cachexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... |
ORPHA:326 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Perianal erythema, Duodenitis, Bloody diarrhea, Perioral erythema, Failure to th... |
OMIM:614328 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... |
OMIM:246700 |
| Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... |
OMIM:614602 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Neoplasm of t... |
ORPHA:424019 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Short stature, Cachexia, Abdominal pain, High, na... |
ORPHA:79076 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Obesity, Primary amenorrhea |
OMIM:600955 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Feeding difficulties, Macroglossia, Severe postnatal growth retardation, Umbilical h... |
OMIM:275100 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased body weight, Growth delay, Macroglossia, Consti... |
OMIM:614450 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Short stature, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Sec... |
OMIM:616050 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorption, Failure to thrive |
OMIM:214950 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Desmoid Disease, Hereditary |
|
Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
| Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... |
OMIM:613291 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Villous atrophy, Diarrhea, Hepatic failure, Steatorrhea, Protein-losing entero... |
OMIM:602579 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Colonic Atresia |
|
Omphalocele, Peptic ulcer, Abdominal distention, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, I... |
ORPHA:464321 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Testicular atrophy, Intestinal malrotation, Congenital diaphragmatic hernia |
OMIM:601163 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor, Anorexia |
ORPHA:79283 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Meckel diverticulum |
OMIM:190440 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hernia, Hiatus hernia |
ORPHA:101009 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, Flexion contracture, Joint contracture of the hand, High palate, Vomit... |
OMIM:601110 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Steatorrhea, Hematochezia, Acholic stools, Prolonged prothrombin time, Hepatic failure,... |
OMIM:613812 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Abdominal pain, Gastric adenocarcinoma, Melena |
OMIM:619182 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Cryp... |
ORPHA:95706 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Short stature, Cryptorchidism, Rectal atresia, Neonatal death, Ana... |
OMIM:613390 |
| Cyclic Vomiting Syndrome |
|
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Growth delay, Cardiomyopathy, Vomiting, P... |
OMIM:500007 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... |
ORPHA:2290 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
| Distal Duplication 15Q |
|
Omphalocele, Camptodactyly of finger, Cryptorchidism, High palate, Intrauterine growth retardatio... |
ORPHA:1707 |
| Schisis Association |
|
Omphalocele, Small for gestational age, Congenital diaphragmatic hernia, Tracheoesophageal fistul... |
ORPHA:63862 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... |
ORPHA:1201 |
| Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Growth delay, Vomiting, Tube fee... |
OMIM:619510 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Eryt... |
ORPHA:913 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, A... |
ORPHA:2869 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss, Prot... |
ORPHA:398063 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor, Dysphagia, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:613561 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Caudal Duplication |
|
Omphalocele, Cryptorchidism, Intestinal duplication |
ORPHA:1756 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Death in infancy, Nausea and vomiting, Omphalocele, In... |
ORPHA:2241 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2143 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Esophageal Atresia |
|
Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophagea... |
ORPHA:1199 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... |
OMIM:617718 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,... |
OMIM:615895 |
| Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Erythema, Secretory diarrhea, Weight... |
ORPHA:97282 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Short stature, Congenital diaphragmatic hernia, Anorectal anomaly, Tracheoesophageal... |
ORPHA:1834 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive |
OMIM:209920 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein... |
OMIM:618183 |
| Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Pallor, Dysphagia |
OMIM:606353 |
| Monosomy 13Q34 |
|
Metrorrhagia, Epistaxis, Obesity, Hematochezia, Growth delay, Prolonged prothrombin time, Pulmoni... |
ORPHA:96168 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Overweight, High, narrow palate, Head-banging, Feeding difficulties, Hematochezia,... |
OMIM:619575 |
| Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Bowel incontinence, Umbilical hernia, Bladd... |
ORPHA:93930 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
| Feingold Syndrome 2 |
|
Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Chronic dia... |
OMIM:557000 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Geophagia, Abdominal pain, Esophageal web, Pallor, Dysphagia, Glos... |
ORPHA:54028 |
| Alpha-Heavy Chain Disease |
|
Growth delay, Abnormal small intestine morphology, Abdominal pain, Malabsorption |
ORPHA:100025 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Ab... |
ORPHA:906 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Fasciitis, Gastritis, Epistaxis, Abdominal pain, Hemat... |
ORPHA:73263 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Intrauterine growth retardation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
| Netherton Syndrome |
|
Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... |
OMIM:256500 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Growth delay, Small for gestational age, Failure to thrive in infancy |
ORPHA:261311 |
| Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... |
OMIM:606528 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Diastasis recti, Large for gestational age, Postnatal gro... |
ORPHA:254534 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Intrauterine growth retardation, Intestinal malrotation |
ORPHA:3035 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Rectal prolapse, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
| Acalvaria |
|
Omphalocele, Cleft palate |
ORPHA:945 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Hypogonadism |
ORPHA:79095 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Villous atrophy, Ileus, Chronic diarrhea |
OMIM:304790 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Psoriasiform lesion, Chronic diarrhea, Growth delay, Inflamm... |
OMIM:614700 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia |
ORPHA:85174 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Villous atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadis... |
OMIM:212065 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Intrauterine growth retardation, Feeding difficulties, Death in chil... |
OMIM:620368 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
| Triploidy |
|
Omphalocele, Intestinal malrotation, Cryptorchidism, Cleft palate, Macroglossia, Intrauterine gro... |
ORPHA:3376 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Scaling skin, Cellulitis |
OMIM:606367 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Anorexia, Poor appetite, Hematemesis, Bowel urgency... |
ORPHA:100075 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly, Anal atresia |
OMIM:601389 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption |
ORPHA:79301 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm o... |
ORPHA:424016 |
| Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesophageal fistula, ... |
ORPHA:115 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Inguinal hernia, Gastritis, Short stature, Small for gesta... |
ORPHA:84064 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
| Immunodeficiency 31C |
|
Villous atrophy, Short stature, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Growth dela... |
OMIM:614162 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Cryptorchidism, Gastroesophageal reflux, Intestinal malrotation |
OMIM:618316 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Cardiac arrest, Anorexia, Congestive heart failure, Diarrhea, Paroxysmal atrial ta... |
ORPHA:49827 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Feeding difficulties, Syncope, Agitation, Palpitations, P... |
ORPHA:276556 |
| Miller-Dieker Syndrome |
|
Growth delay, Omphalocele |
ORPHA:531 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Large for gestational age, Feeding difficulties, Syncope,... |
ORPHA:324575 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Dysp... |
OMIM:619751 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestin... |
ORPHA:436252 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Neonatal d... |
OMIM:615524 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Metrorrhagia, Epistaxis, Gastrointestinal angi... |
ORPHA:99147 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Redundant neck skin, Diastasis recti, Postnatal growth retardation,... |
ORPHA:254528 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Feeding difficulties, Syncope, Agitation, Palpitations, P... |
ORPHA:276575 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intrau... |
OMIM:601346 |
| Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Death in infancy, Death in early adulthood, Na... |
ORPHA:144 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Vasculitis, Weight loss, Hematochezia, Bloody diarrhea... |
OMIM:615846 |
| Desmoid Tumor |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Small for gestational age, Short stature, Feeding difficulties in infancy, C... |
OMIM:301056 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Feeding difficulties, Syncope, Agitation, Palpitations, P... |
ORPHA:276580 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Cryptorchidism, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vom... |
OMIM:608104 |
| Boomerang Dysplasia |
|
Omphalocele, Cryptorchidism, Severe short-limb dwarfism, Aplasia/Hypoplasia of the abdominal wall... |
ORPHA:1263 |
| Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Pallor, Failure to thrive, Glos... |
ORPHA:90045 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Congestive heart fail... |
ORPHA:3386 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor, Weight loss |
ORPHA:517 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Cryptorchidism, Abnormality of the abdominal wall, Cleft palate, Jo... |
OMIM:247200 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Fryns Syndrome |
|
Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cryp... |
ORPHA:2059 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis |
OMIM:615083 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Hyperactivity, Short stature, Small for gestational age, Aggressive behavior, Postna... |
OMIM:609625 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Vomiting, Pallor |
ORPHA:71518 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... |
ORPHA:79319 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Agitation, Increased body weight, Pallor |
ORPHA:276608 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Short stature, Hepatocellular carcinoma, Diarrhea, Death in childhood, Fat malabsorption, Failure... |
OMIM:601847 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... |
OMIM:239300 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Large for gestational age, Postnatal growth retard... |
ORPHA:254519 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Redundant skin, Morgagni ... |
OMIM:613177 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival bleeding, Pallor |
ORPHA:98870 |
| Vacterl/Vater Association |
|
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Anorectal anomaly, Tracheoesophagea... |
ORPHA:887 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Hematoch... |
OMIM:175050 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Congestive heart failure, Diarrh... |
ORPHA:33226 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| X-Linked Ehlers-Danlos Syndrome |
|
Inguinal hernia, Short stature, Gastroesophageal reflux, Hernia, Umbilical hernia, Bruising susce... |
ORPHA:75497 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia |
OMIM:222448 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Rhizomelia |
ORPHA:93267 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometro... |
ORPHA:849 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Mild postnatal growth retardation, Cryptorchidism, Rectal prolapse, Narrow palate,... |
OMIM:235510 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:613630 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Omphalocele, Inguinal hernia, Telangiectasia of the skin, Abnormal dental ... |
ORPHA:2092 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Small for gestational age, Short stature, Diastasis recti, Pyloric stenosis, Scaling... |
OMIM:618419 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Feeding difficulties in infancy, Congestive h... |
ORPHA:60041 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic... |
ORPHA:90038 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Tachycardia, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Small for gestational age, Abdominal distention, Gastrointestinal... |
ORPHA:90051 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Cleft pala... |
ORPHA:261344 |
| Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Diarrhea, Erythema, Growth delay, Death in childhood, Neonatal... |
OMIM:609313 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Gastroesophageal reflux, Vomiting, Nausea, Male infertility, Primary test... |
ORPHA:85450 |
| Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility, Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
| C Syndrome |
|
Omphalocele, Short stature, Cryptorchidism, Cutis laxa, High palate, Failure to thrive |
OMIM:211750 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Abdominal pain, Diarrhea, Melena, ... |
ORPHA:319218 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, ... |
OMIM:300514 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Dilate... |
OMIM:619573 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Trisomy 18 |
|
Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, E... |
ORPHA:3380 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
| Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat... |
OMIM:115470 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight... |
ORPHA:94080 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate |
OMIM:601357 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Villous atrophy, Short stature, Small for gestational age, Pulmonic stenosi... |
OMIM:222470 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty |
OMIM:618985 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Short stature, Duodenal atresia |
ORPHA:3004 |
| Fryns Syndrome |
|
Omphalocele, Aganglionic megacolon, Intestinal malrotation, Large for gestational age, Esophageal... |
OMIM:229850 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| 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 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Prot... |
OMIM:269860 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Fanconi Anemia, Complementation Group W |
|
Growth delay, Intrauterine growth retardation, Duodenal atresia |
OMIM:617784 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Carpenter Syndrome 1 |
|
Omphalocele, Short stature, Cryptorchidism, Obesity, High palate, Pulmonic stenosis, Camptodactyl... |
OMIM:201000 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Pallor, Arrhythmia |
ORPHA:29822 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Short stature, Congestive heart failure, Diarrhea, Esophageal carcinoma, Enteroc... |
ORPHA:391487 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Short stature, Pallor, Anorexia |
OMIM:611590 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Aganglionic megacolon, Anal atresia |
OMIM:235760 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Intestinal duplication, Bladder exstrophy, Cloacal exstrophy... |
ORPHA:93929 |
| Rheumatic Fever |
|
Nausea and vomiting, Pericarditis, Epistaxis, Anorexia, Abdominal pain, Myocarditis, Erythema, Ap... |
ORPHA:3099 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Rhizomelia, Cleft palate, Stillbirth, Protuberant abdomen, Camptodactyly, Joint cont... |
OMIM:228520 |
| Leishmaniasis |
|
Abnormal bleeding, Anorexia, Skin ulcer, Weight loss, Pallor |
ORPHA:507 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
| Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Hepatic failure |
ORPHA:567983 |
| Hemoglobin D Disease |
|
Pallor, Abdominal pain |
ORPHA:90039 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Omphalocele |
OMIM:200995 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Dubowitz Syndrome |
|
Anal stenosis, Short stature, Malabsorption, Postnatal growth retardation, Cryptorchidism, Rectal... |
ORPHA:235 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, High palate, Pallor, Delayed puberty, Failure to thrive |
OMIM:600462 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Feeding difficultie... |
ORPHA:2745 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Growt... |
OMIM:617341 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Agitation, Pallor, Dysphagia |
ORPHA:13 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Rhizomelia, Hamartoma of tongue, Cryptorchidism, Cleft palate, Lobulated tongue, Sti... |
OMIM:616300 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito... |
ORPHA:343 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... |
ORPHA:79327 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... |
OMIM:619381 |
| Alg6-Cdg |
|
Macroglossia, Failure to thrive, Protein-losing enteropathy, Feeding difficulties |
ORPHA:79320 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Cystic Fibrosis |
|
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Steatorrhea, Failure to thriv... |
OMIM:219700 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Growth delay, Intermittent diarrhea, Focal active colitis |
OMIM:616433 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Anal stenosis, Short stature, Intestinal malrotation, Cleft palate, Joint contractur... |
OMIM:300373 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Alg9-Cdg |
|
Omphalocele, Villous atrophy, Tricuspid regurgitation, Rhizomelia, Lipodystrophy, Diarrhea, Hypop... |
ORPHA:79328 |
| Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavi... |
ORPHA:2131 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Short stature, Cleft soft palate, Camptodactyly, Absent uvula |
OMIM:618529 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attent... |
OMIM:619227 |
| Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Flexion contracture, Cleft palate, Death in childhood, Neonatal death |
OMIM:619124 |
| Diets-Jongmans Syndrome |
|
Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Aggressive behavior, Feeding dif... |
OMIM:618846 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Cachexia, Portal hypertension, Anorexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
| Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Poor appetite, Weight loss, Vomiting, Constipation, Pallor, Failu... |
ORPHA:35858 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra... |
ORPHA:2538 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal sma... |
ORPHA:90291 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Codas Syndrome |
|
Omphalocele, Short stature, Cryptorchidism, Gastroesophageal reflux, Rectovaginal fistula, Enamel... |
OMIM:600373 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
| Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia, High, narrow palate, Heart murmur, Narrow palate, High palate |
OMIM:158170 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Pulmonary insufficiency, Intestinal malrotation, Diastasis recti, Esophageal atresia... |
OMIM:265380 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:263210 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Short stature, Epistaxis, Diarrhea, Fat malabsorption, Failure to thrive |
OMIM:211600 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Intestinal malrotation, Cryptorchidism, Cleft palate, Umbilical hernia, Anal atresia |
ORPHA:2166 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Prolactinoma |
|
Nausea and vomiting, Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female ... |
ORPHA:2965 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Cle... |
OMIM:618454 |
| Iniencephaly |
|
Omphalocele, Rhizomelia, Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex... |
ORPHA:63259 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Omphalocele |
OMIM:248450 |
| Marshall-Smith Syndrome |
|
Omphalocele, Failure to thrive, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Crypto... |
OMIM:602535 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Prolonged bleeding time, Weight loss, Intracranial hemorrhage, Pallor, Bruis... |
ORPHA:3226 |
| Duodenal Atresia |
|
Duodenal atresia |
ORPHA:1203 |
| Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Nausea and vomiting, Decreased female libido, Hypogonadotropic hypo... |
ORPHA:91349 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| C Syndrome |
|
Omphalocele, Death in infancy, Short stature, Failure to thrive in infancy, Redundant skin, Conge... |
ORPHA:1308 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Anal atresia |
ORPHA:63260 |
| Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diap... |
ORPHA:2556 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Diarrhea, Increased body weight, Vomiting, Agitation, Pallor |
ORPHA:263455 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Oeis Complex |
|
Omphalocele, Intestinal malrotation, Cryptorchidism, Anteriorly placed anus, Rectovaginal fistula... |
OMIM:258040 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding |
ORPHA:163961 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties |
OMIM:618154 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Pulmonic stenosis, Pulmonary ... |
OMIM:608149 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
| Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Bruising susceptibility, Petechiae |
ORPHA:1959 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Malabsorption, Abdominal pain, Diarrh... |
ORPHA:98850 |
| Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption, Failure t... |
ORPHA:71 |
| Otopalatodigital Syndrome, Type I |
|
Omphalocele, Short stature, Cleft palate |
OMIM:311300 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Primary amenorrhea, Growth delay, Multiple lipomas, High palate, Pallor |
OMIM:617675 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Abdominal pain, Hematemesis, Internal hemorrhage, Diarrhea, Capill... |
ORPHA:340 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Paralytic ileus, Growth dela... |
OMIM:276700 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Narrow palate, Macroglossia, High palate, Intrauterine growth retardation |
OMIM:617022 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Syncope, Pallor, Hypotension, N... |
ORPHA:98849 |
| Feingold Syndrome |
|
Esophageal atresia, Short stature, Duodenal atresia |
ORPHA:1305 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Rhizomelia, Short stature, Small for gestational age, Growth delay, Severe ... |
OMIM:614114 |
| Abcd Syndrome |
|
Neonatal death, Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis |
OMIM:600501 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Cryptorchidism, Anal atresia, Median cleft lip and palate |
OMIM:264480 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Celiac Disease, Susceptibility To, 1 |
|
Short stature, Abdominal pain, Celiac disease, Postnatal growth retardation, Abdominal distention... |
OMIM:212750 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Growth delay, Duodenal atresia |
OMIM:617798 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atresia |
OMIM:243605 |
| Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Tricuspid regurgitation, Short stature, Cryptorchidism, Cleft palate, Anteriorly pla... |
OMIM:616894 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
| Mungan Syndrome |
|
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoper... |
OMIM:611376 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Short stature, Anal atresia, Decreased body weight |
OMIM:182210 |
| Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hepatocellular carcinoma, High-output congestive heart failure, Dia... |
ORPHA:231226 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... |
ORPHA:99827 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Diarrhea, Weight loss, Hypertension, Agitation, Vomiting, Hypotension, Pallor, Oral ave... |
ORPHA:134 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Fibrochondrogenesis |
|
Omphalocele, Short stature, Camptodactyly of finger, Cleft palate |
ORPHA:2021 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Cachexia, Anorexia, Malabsorption, Myocardial infarcti... |
ORPHA:3452 |
| Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Inguinal hernia, Hiatus hernia, Incisional hern... |
ORPHA:287 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atr... |
ORPHA:3164 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... |
ORPHA:465 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Atrial flutter, Omphalocele |
OMIM:601927 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Feeding d... |
OMIM:257300 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Anal stenosis, Inguinal hernia, Bilateral cryptorchidism, Flexion contracture, Cleft... |
OMIM:263650 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Flexion contracture of finger, Small for gestational age, Ankle flexion con... |
ORPHA:464311 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Inguinal hernia, Short stature, Aganglionic megacolon, Perianal er... |
OMIM:308205 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Malakoplakia |
|
Abnormal bleeding, Abnormality of the menstrual cycle, Orchitis, Abdominal pain, Diarrhea, Skin u... |
ORPHA:556 |
| Holoprosencephaly |
|
Omphalocele, Failure to thrive in infancy, Congenital diaphragmatic hernia, Feeding difficulties ... |
ORPHA:2162 |
| Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
| Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea, Failure to ... |
ORPHA:586 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607765 |
| Dravet Syndrome |
|
Obsessive-compulsive trait, Pallor, Impulsivity |
ORPHA:33069 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Shortened QT interval, Diarr... |
ORPHA:652 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Streak ovary, Jejunal atresia, Ileal atresia, Cryptorchidism, Chordee, Attention def... |
OMIM:618820 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Serkal Syndrome |
|
Growth delay, Congenital diaphragmatic hernia, Malrotation of small bowel, Pulmonic stenosis |
ORPHA:139466 |
| Jacobsen Syndrome |
|
Death in infancy, Inguinal hernia, Short stature, Intestinal malrotation, Feeding difficulties in... |
ORPHA:2308 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Cryptorchidism, Intrauterine growth retardation, Failure to thrive, Duodenal atresia |
OMIM:603467 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hyperactivity, Multiple joint contractures, Short stature, Small for gestat... |
ORPHA:464306 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Nausea, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Secre... |
ORPHA:544482 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Abdominal distention, Rectal p... |
ORPHA:508 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
| Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Malabsorption, Feedin... |
ORPHA:3260 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Hip contracture, Prolonged b... |
ORPHA:169805 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Pallor, Skin ulcer |
ORPHA:848 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Omphalocele, Diastasis recti, Postnatal growth retardation, Abnormal... |
OMIM:257920 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficult... |
OMIM:616395 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Short stature, Large for gestational a... |
ORPHA:363705 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Omphalocele, Short stature |
OMIM:145420 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uvula, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Omphalocele, Anal stenosis, Inguinal hernia, Cryptorch... |
ORPHA:322 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
| Beta-Thalassemia Major |
|
Failure to thrive in infancy, Hepatocellular carcinoma, High-output congestive heart failure, Dia... |
ORPHA:231214 |
| Oculoskeletodental Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Elbow flexion contracture, Lacunar stro... |
OMIM:618440 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Azoospermia, Hypogonadism, Pallor |
OMIM:615234 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Rift Valley Fever |
|
Abnormal bleeding, Miscarriage, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding |
ORPHA:319251 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight... |
ORPHA:276621 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Large vessel vasculi... |
OMIM:301000 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Inguinal hernia, Redundant neck skin, Cryptorchidism, Abdominal distention, Cle... |
OMIM:235255 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis |
OMIM:615190 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele |
OMIM:617895 |
| Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Skin ulcer, Hypogonadism, Decreased liver function, Pallor,... |
ORPHA:231222 |
| Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Redundant skin, Congenital diaphragmatic hernia, Large for gestatio... |
ORPHA:116 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, High palate, Pallor, Hepatic fail... |
OMIM:606812 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Large for gestational age, Flexion contracture, Hepatoblastoma, Intrauterine... |
ORPHA:96334 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Coffin-Lowry Syndrome |
|
Inguinal hernia, Short stature, Rectal prolapse, Narrow palate, Cutis laxa, Mitral regurgitation,... |
OMIM:303600 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
| Tsh-Secreting Pituitary Adenoma |
|
Vomiting, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males,... |
ORPHA:91347 |
| Microform Holoprosencephaly |
|
Intrauterine growth retardation, Short stature, Cleft palate, Duodenal atresia |
ORPHA:280200 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Vomiting, Pallor, Death in childhood |
OMIM:246450 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Palpi... |
ORPHA:2847 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Intracranial hemorrhage, Self-injurious behavio... |
ORPHA:324636 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Intestinal mal... |
ORPHA:2729 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Melnick-Needles Syndrome |
|
Omphalocele, Cleft palate, Stillbirth, Pulmonary arterial hypertension, Failure to thrive |
OMIM:309350 |
| Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea, Pallor |
ORPHA:56425 |
| Distal Deletion 12Q |
|
Hyperactivity, Short stature, Failure to thrive in infancy, Unilateral cryptorchidism, High, narr... |
ORPHA:96149 |
| Sheehan Syndrome |
|
Dyspareunia, Orthostatic hypotension, Decreased female libido, Poor appetite, Obesity, Impotence,... |
ORPHA:91355 |
| Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... |
ORPHA:99745 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Pallor, Decreased body weight |
OMIM:609053 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Short stature, Rectal prolapse, Obesity, Feeding difficulties, Gastroesophag... |
OMIM:617157 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Redundant neck skin, Postnatal growth retardation, Cryptorchidism, Abdominal dis... |
ORPHA:1655 |
| Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
| Williams-Beuren Syndrome |
|
Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Gastroesophageal reflux, S... |
OMIM:194050 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Hepatic failure, Prolonged prothrombin time, Steatorrhea, Fat malab... |
ORPHA:79303 |
| Melnick-Needles Syndrome |
|
Omphalocele, Short stature |
ORPHA:2484 |
| Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Esophage... |
ORPHA:480520 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Camptodactyly of finger, Cleft palate, Glossoptosis, Failure to thrive |
ORPHA:90652 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Posteriorly placed anus, Pulmonic stenosis, Mitral stenosis, Failure to thrive, Anal... |
OMIM:306955 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Death in infancy, Bundle branch block, Inguinal hernia, Omphalocele, Campt... |
ORPHA:373 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Cleft palate, Ventral hernia |
OMIM:313850 |
| Panhypophysitis |
|
Orthostatic hypotension, Decreased female libido, Poor appetite, Impotence, Pallor, Polydipsia, D... |
ORPHA:95513 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Multiple joint contractures, Camptodactyly of finger, Ankle flexion contrac... |
ORPHA:468631 |
| Williams Syndrome |
|
Redundant skin, Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Compulsive behav... |
ORPHA:904 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Tarp Syndrome |
|
Failure to thrive, Subdural hemorrhage, Cleft palate, Tongue nodules, Glossoptosis, High palate, ... |
OMIM:311900 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... |
ORPHA:85443 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
| Feingold Syndrome Type 1 |
|
Jejunal atresia, Short stature, Tricuspid stenosis, Esophageal atresia, Gastrointestinal atresia,... |
ORPHA:391641 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Pallor |
ORPHA:163596 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dyspareunia, Acute hepatic failure, Nausea and vomiting, Myocardial ... |
ORPHA:36426 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
| Constricting Bands, Congenital |
|
Omphalocele, Bladder exstrophy, Gastroschisis, Cleft palate |
OMIM:217100 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Hypertension, Atrioventricular block |
ORPHA:371428 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Redundant skin, Anteriorly placed anus, Camptodactyly, Premature ski... |
OMIM:200110 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Abnormality of the mens... |
ORPHA:90308 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
| Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
| Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated cardiomyopathy, Weight l... |
ORPHA:20 |
| Pentalogy Of Cantrell |
|
Omphalocele, Congenital diaphragmatic hernia, Cleft palate |
ORPHA:1335 |
| Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Immunodeficiency 17 |
|
Death in infancy, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent... |
OMIM:615607 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... |
ORPHA:727 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Menometrorrhagia, Epistaxis, Anorexia, Malabsorpt... |
ORPHA:79430 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Intestinal malrotation, Camptodactyly of finger, Cryptorchidism, Cleft palate, Lobul... |
OMIM:249000 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Feeding difficulties |
OMIM:613839 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Skin ulcer, Gastrointestinal infarctions... |
ORPHA:91138 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Pallor, Intrauterine growth reta... |
OMIM:619488 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Congestive heart failure, Pallor |
ORPHA:75564 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Feeding difficulties |
ORPHA:439218 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Esophage... |
OMIM:227646 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Severe short stature, Aganglionic megacolon, Abnormal dental enamel... |
ORPHA:2273 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Abnormal tongue... |
ORPHA:653 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Duodenal stenosis, Intrauterine growth retardati... |
ORPHA:2470 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Corneal neovascularization, Furrowed tongue |
OMIM:158310 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Multiple l... |
ORPHA:1414 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
| Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Severe short stature, Monorchism, Camptodactyly of finger, High, narro... |
ORPHA:2753 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Charge Syndrome |
|
Omphalocele, Anal stenosis, Hypogonadotropic hypogonadism, Postnatal growth retardation, Esophage... |
OMIM:214800 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight... |
ORPHA:29072 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi... |
ORPHA:774 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Short stature, Intestinal malrotation, Congenital diaphragmatic her... |
OMIM:305600 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Malabsorption, Feeding difficu... |
ORPHA:565 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
| Li-Fraumeni Syndrome |
|
Testicular neoplasm, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Neoplasm of the ... |
ORPHA:524 |
| Adenohypophysitis |
|
Orthostatic hypotension, Decreased female libido, Poor appetite, Impotence, Pallor, Decreased mal... |
ORPHA:95512 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Scaling skin, Hypo... |
ORPHA:79456 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Short stature, Cleft palate, Growth delay, Colon canc... |
ORPHA:1052 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry... |
ORPHA:261529 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Redundant skin, Camptodactyly of finger, Growth delay, Excessive wrinkled skin, Umbi... |
ORPHA:920 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
| Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Postnatal growth retardation, Diarrhea, Malnutrition, Decreased body weight, Fat m... |
ORPHA:96180 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Poor appetite, Gast... |
ORPHA:125 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis |
OMIM:612591 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic diarrhea, Rectal abscess, Skin ulcer |
OMIM:116920 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Tricuspid stenosis, Congestive heart failure, Cleft palate, Colon cancer, High pal... |
OMIM:105650 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
| Fraser Syndrome 2 |
|
Abdominal distention, Rectal atresia, Intestinal malrotation, Anal atresia |
OMIM:617666 |
| Pagod Syndrome |
|
Omphalocele, Death in infancy, Short stature, Sudden cardiac death, Congenital diaphragmatic hern... |
ORPHA:991 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele |
ORPHA:3329 |
| Cardiac Diverticulum |
|
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Diastasis recti,... |
ORPHA:1686 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia |
ORPHA:3000 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Reye syndrome-like episodes, Diarrhea, Vomiting, Pallor |
ORPHA:348 |
| Gardner Syndrome |
|
Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino... |
ORPHA:79665 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemi... |
OMIM:227650 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Short stature, Cryptorchidism, Furrowed tongue, Feeding difficulties, Gastroesophageal reflux, Hi... |
OMIM:616975 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Failure to thrive, Rectal abscess |
OMIM:601495 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:203800 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,... |
ORPHA:247806 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
| Hereditary Spherocytosis |
|
Abdominal pain, Abdominal distention, Skin ulcer, Growth delay, Pallor, Restrictive cardiomyopathy |
ORPHA:822 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor, Protracted diarrhea |
ORPHA:331206 |
| Childhood Absence Epilepsy |
|
Punding, Pallor, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Fraser Syndrome |
|
Omphalocele, Death in infancy, Anal stenosis, Cryptorchidism, Ectopic anus, High palate, Umbilica... |
ORPHA:2052 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Severe short stature, Inguinal hernia, Redundant skin, Pyl... |
ORPHA:90349 |
| Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Neoplasm of... |
ORPHA:512 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Multi... |
OMIM:175100 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Azoospermia, Hypogonadism, Pallor |
ORPHA:300298 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
| Pituitary Apoplexy |
|
Nausea and vomiting, Hypergonadotropic hypogonadism, Hypertension, Impotence, Oligomenorrhea, Hyp... |
ORPHA:95613 |
| Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Inguinal hernia, Redundant skin, Cryptorchidism, Malrotation of small bowel, C... |
ORPHA:2953 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Esophageal atresia, Cryptorchidism, Abdominal distention, Ectopic anus, Disproportio... |
ORPHA:93271 |
| Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer, Short stature, Decreased body weight |
OMIM:605822 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
| Feingold Syndrome 1 |
|
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal atresia, Tracheoesophag... |
OMIM:164280 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Orchitis, Vasculitis,... |
ORPHA:761 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ... |
ORPHA:91139 |
| Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Fulminant hepatitis, Ulcerative c... |
ORPHA:2137 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi... |
ORPHA:974 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Myocarditis, Xeros... |
ORPHA:809 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Scedosporiosis |
|
Pericarditis, Abnormal jejunum morphology |
ORPHA:449280 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorc... |
OMIM:227645 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hepatic failure |
ORPHA:79302 |
| Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Short stature, Elbow contracture, Postnatal growth retardation, Cryptorchidism, Clef... |
OMIM:304120 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Cryptorchidism, Macroglossia, Cardiomyopathy, Hepatoblastoma |
OMIM:130650 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorc... |
OMIM:600901 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2n... |
OMIM:601803 |
| Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Pallor |
OMIM:246400 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Inguinal hernia, Redundant neck skin, Redundant skin, Postnatal growth reta... |
ORPHA:90348 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Adenomatous colonic polyposis, Abnormal cementum morpholo... |
ORPHA:733 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
| Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Cleft palate, Unilateral cleft palate, Median cleft palate, ... |
OMIM:610828 |
| Diamond-Blackfan Anemia |
|
Short stature, Cleft soft palate, Small for gestational age, Growth delay, High palate, Pallor, A... |
ORPHA:124 |
| Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Duodenal ulcer, Intestinal malrotation, Short stature, Aggressive behavior, Post... |
OMIM:135900 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar... |
ORPHA:900 |
| Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
| Carney Complex |
|
Striae distensae, Sertoli cell neoplasm, Dorsocervical fat pad, Neoplasm of the stomach, Testicul... |
ORPHA:1359 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Scarring, Hiatus hernia, D... |
OMIM:601776 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Intestinal malrotation, Female infertility |
ORPHA:244 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Intrauterine growth retardation, Stillbirth, Cleft palate |
OMIM:236680 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... |
ORPHA:261584 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Incontinentia Pigmenti |
|
Short stature, Scarring, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:280365 |
| Isolated Biliary Atresia |
|
Small for gestational age, Acholic stools, Prolonged prothrombin time, Decreased liver function, ... |
ORPHA:30391 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Small for gestational age, Cryptorchidism, Tracheoesophagea... |
OMIM:107480 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Aregenerative Anemia |
|
Abnormal bleeding, Bruising susceptibility, Pallor |
ORPHA:101096 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Hypertension, Neonatal death |
OMIM:263200 |
| Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... |
OMIM:301043 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Feeding difficulties in infancy, Hydrocele testis, High palate, Gastroesophageal r... |
ORPHA:280633 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Anorexia, M... |
ORPHA:117 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Tarp Syndrome |
|
Failure to thrive, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Intr... |
ORPHA:2886 |
| 22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Short stature, Abnor... |
ORPHA:567 |
| Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer |
ORPHA:722 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Dextrocardia |
|
T-wave inversion, Abnormal EKG, Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
| Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Aggressive behavior, High, narrow palate, Rectal prolapse, Pyloric stenosi... |
OMIM:309800 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Nasogastric tube feeding in... |
ORPHA:1708 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
| Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Rectal abscess |
OMIM:608203 |
| H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Vasculitis, Petechiae |
OMIM:603909 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Cryptorchidism, Arrhythmia, Umbilical hernia |
ORPHA:1519 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
| Penile Agenesis |
|
Cloacal abnormality, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula... |
ORPHA:49 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Intrauterine growth retardation, Intestinal malrotation, Duodenal atr... |
OMIM:270100 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption |
ORPHA:2796 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Polydipsia, Portal hypertension, Esophageal vari... |
ORPHA:731 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis, Cellulitis |
ORPHA:51636 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Atten... |
ORPHA:8 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor, Abdominal pain |
OMIM:300908 |
| Fanconi Anemia |
|
Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Tracheoeso... |
ORPHA:84 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Rectal abscess, Cellulitis |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Rectal abscess, Cellulitis |
OMIM:233710 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Rectal abscess, Cellulitis |
OMIM:233690 |
| Sacral Defect With Anterior Meningocele |
|
Constipation, Sacral lipoma, Rectal abscess |
OMIM:600145 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
| Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Abdominal pain, Myocarditis, Abnormal left ventricular function, Cardiomyo... |
ORPHA:892 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
| Plague |
|
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, S... |
ORPHA:707 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dermal translucency, Inguinal hernia, Abdominal distention, Diarrhea, Malnutri... |
OMIM:619991 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Inguinal hernia, Congestive heart failure, Arterial rupture, Excessi... |
OMIM:225400 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele |
ORPHA:3186 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Abetalipoproteinemia |
|
Abnormal bleeding, Congestive heart failure, Chronic diarrhea, Prolonged prothrombin time, Vomiti... |
ORPHA:14 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Noonan Syndrome 1 |
|
Male infertility, Abnormal bleeding, Short stature, Failure to thrive in infancy, Postnatal growt... |
OMIM:163950 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Granulomatous Disease, Chronic, X-Linked |
|
Rectal abscess, Cellulitis |
OMIM:306400 |
| Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pulmonary arterial hypertension, Bruising susceptibility, Pallor |
ORPHA:667 |
| Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Short stature, Malnutrition, Growth delay, Steatorrhea... |
ORPHA:811 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... |
OMIM:619472 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Cryptorchidism, Cleft palate, Abnormal umbilicus morphology,... |
OMIM:219000 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiectasia, Steat... |
OMIM:613471 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
| Cystinosis, Nephropathic |
|
Male infertility, Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dysphag... |
OMIM:219800 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Hyperactivity, Short statur... |
ORPHA:508488 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Prolonged QT interval, Tachycardia, Streak ovary, Short stature, Unilateral cry... |
ORPHA:1772 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
| Wolf-Hirschhorn Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Malrotation of small bowel, Cleft palat... |
OMIM:194190 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... |
ORPHA:189427 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty |
ORPHA:99429 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Diarrhea, Intracranial hemorrhage, Prolong... |
ORPHA:90062 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea |
OMIM:229600 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Cryptorchidism, Malrotation of small bowel, Feeding difficulties,... |
OMIM:606170 |
| Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage, Weight loss |
OMIM:233450 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
| Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Shagreen patch, Abdominal pain |
ORPHA:538 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Inguinal hernia, Intestinal malrotation, Congenital diaphragmat... |
OMIM:312870 |
| Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
| Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
| Alström Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia |
ORPHA:64 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
