| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... |
ORPHA:79084 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Familial Intestinal Malrotation |
|
Intestinal malrotation, Volvulus |
ORPHA:508410 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay, Dehydration |
OMIM:251850 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... |
OMIM:601346 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Mitchell-Riley Syndrome |
|
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... |
OMIM:615710 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Duodenal stenosis, Intrauterine growth retardation, Cryptorc... |
ORPHA:2470 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Short stature, Steatorrhea |
OMIM:618752 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... |
OMIM:167800 |
| Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus |
ORPHA:676 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hypoglycemia |
OMIM:620137 |
| Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... |
ORPHA:293964 |
| Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption |
ORPHA:309108 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus |
OMIM:608600 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... |
ORPHA:99886 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Growth delay |
ORPHA:100025 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Vomiting, Diarrhea, Dehydration |
OMIM:610370 |
| Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Intrauterine growth retardation, Absent gallbladder, High palate, Small for gestational age, Panc... |
ORPHA:556955 |
| Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb... |
ORPHA:2985 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Absent gallbladder, Neonatal ... |
OMIM:618500 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Hypogonadism, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes... |
ORPHA:79230 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Pancreatic insufficiency, combined exocrine |
|
Exocrine pancreatic insufficiency, Anal atresia, Anasarca |
OMIM:260450 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Failure to thrive, Intestinal malrotation, Ex... |
ORPHA:2255 |
| Secondary Short Bowel Syndrome |
|
Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small intestine morphology, A... |
ORPHA:95427 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Intes... |
OMIM:615237 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Hypoglycemia |
OMIM:619386 |
| 17Q12 Microdeletion Syndrome |
|
Elevated circulating hepatic transaminase concentration, Oligohydramnios, Cryptorchidism, Short s... |
ORPHA:261265 |
| Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Oligohydramnios, Abnormal biliary tract morphology, Abnormal liver parenc... |
ORPHA:3032 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Dehydration |
OMIM:614265 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology |
OMIM:211400 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Failure to thrive, Exoc... |
ORPHA:456312 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Gastric adenocarcinoma, Melena |
OMIM:619182 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Dystrophic fingernails, Recurrent... |
ORPHA:158673 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... |
OMIM:610199 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Intrauterine growth r... |
OMIM:618958 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Pancreatic aplasia |
OMIM:609069 |
| Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... |
ORPHA:435651 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... |
ORPHA:453533 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate |
OMIM:137215 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou... |
ORPHA:92050 |
| Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Trichorrhexis nodosa, Intrauterine growth retardation, Villous atrophy, Brittl... |
OMIM:614602 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... |
ORPHA:65682 |
| Duodenal Atresia |
|
Polyhydramnios, Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276580 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology |
OMIM:613021 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Predominantly lower limb lymphedema, Alopecia, Nonimmune hydrops... |
OMIM:607823 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Fa... |
OMIM:613812 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... |
OMIM:600803 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276575 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... |
OMIM:615954 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Edema, Weight loss, Dehydration |
ORPHA:103910 |
| Enteric Anendocrinosis |
|
Cholestatic liver disease, Vomiting, Diarrhea, Portal hypertension, Dehydration |
ORPHA:83620 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... |
ORPHA:69663 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis |
OMIM:614262 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... |
OMIM:208540 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Oligohydramnios, Skin dimple, Aplasia/Hypopla... |
ORPHA:261304 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea |
OMIM:612714 |
| Friedreich Ataxia |
|
Decreased pyruvate carboxylase activity, Diabetes mellitus |
OMIM:229300 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Aplasia cutis congenita, Polyhydramnios, Flexion cont... |
OMIM:612138 |
| Familial Renal Glucosuria |
|
Moderate postnatal growth retardation, Dehydration |
ORPHA:69076 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis |
OMIM:226700 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... |
ORPHA:157798 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Growth delay, Exocrine pancreatic insufficiency, Ascites, Abnormality of ... |
ORPHA:1667 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... |
ORPHA:30391 |
| Oliver-Mcfarlane Syndrome |
|
Severe short stature, Alopecia, Distal amyotrophy, Decreased response to growth hormone stimulati... |
OMIM:275400 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Abnormal intestine morphology, Hypothyroid... |
OMIM:615952 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t... |
OMIM:619377 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Sparse eyebrow, Skeletal muscle atrophy, Flexion contracture, Atrophic... |
ORPHA:75496 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Xanthomatosis, ... |
ORPHA:2348 |
| Dextrocardia |
|
Webbed neck, Preauricular skin tag, Meckel diverticulum, Abnormality of abdominal situs, Pancreat... |
ORPHA:1666 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Bilateral cryptorchidism, Pyloric stenosis |
ORPHA:314575 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... |
OMIM:300048 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616329 |
| Periventricular Nodular Heterotopia |
|
Gastroesophageal reflux, Thin skin, Pyloric stenosis |
ORPHA:98892 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Glycosuria, Maturity-onset diabetes of the young, Exocrine pancreatic insu... |
OMIM:137920 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
OMIM:618805 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... |
ORPHA:276556 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Xanthomatosis, ... |
ORPHA:79083 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Intrauterine growth r... |
ORPHA:217346 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Dehydration, Oligohydramnios, Portal hypertension, Hepatic... |
OMIM:263200 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| X-Linked Ehlers-Danlos Syndrome |
|
Short stature, Gastroesophageal reflux, Thin skin |
ORPHA:75497 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Maple Syrup Urine Disease, Type Ia |
|
Pancreatitis, Hypoglycemia |
OMIM:248600 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
| Dermoodontodysplasia |
|
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Trichodysplasia, Sp... |
ORPHA:1660 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, R... |
ORPHA:99885 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Lymphedema, Sparse body hair, Furrowed ... |
ORPHA:2930 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Dehydration |
ORPHA:28 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... |
OMIM:246200 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:79159 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Jejunoileal ulceration, Hepatitis, Intestinal malrotation, Intrauterine growt... |
ORPHA:436252 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Abnor... |
ORPHA:2315 |
| Chronic Hiccup |
|
Weight loss, Dehydration, Abnormality of the diaphragm |
ORPHA:396 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair |
OMIM:614238 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... |
OMIM:600955 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Aganglionic megacolon, Hypohidrosis, Cryptorchidism |
ORPHA:452 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis, Diabetic ketoacidosis |
ORPHA:70578 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Hypoglycemia |
OMIM:251110 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus |
OMIM:606176 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Esophageal Ring, Lower |
|
Hiatus hernia, Dysphagia |
OMIM:133240 |
| Lichen Planopilaris |
|
Alopecia, Skin ulcer, Hypopigmented skin patches, Hepatitis, Abnormal fingernail morphology, Derm... |
ORPHA:525 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... |
OMIM:613490 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Vomiting, Dehydration, Neonatal death |
OMIM:602199 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Bifid uvula, Sparse eyebrow, Velopharyngeal insufficiency, Decreased number of sweat... |
OMIM:129400 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis |
OMIM:617219 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Acrogeria |
|
Skin ulcer, Fine hair, Aplasia/Hypoplasia of the skin, Short stature, Thin skin |
ORPHA:2500 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Pyloric stenosis, Fine hair, Elbow flexion contracture, Intrauterine growth retardation, Cryptorc... |
OMIM:614438 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Small for gestational age, Villous atrophy, Failure to thrive, Crypt hyperplasia |
OMIM:613217 |
| Dermoodontodysplasia |
|
Nail dysplasia, Trichodysplasia, Thin skin |
OMIM:125640 |
| Congenital Short Bowel Syndrome |
|
Intestinal malrotation, Sparse hair, Short stature, Intestinal hypoplasia |
ORPHA:2301 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Vomiting, Secretory diarrhea, Dehydration |
OMIM:616069 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Sparse body hair, Decreased testicular size, Intrauterine growth retardation, ... |
ORPHA:261483 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Elevated circulating hepatic... |
OMIM:615895 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
ORPHA:79312 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intrauterine growth retarda... |
OMIM:243150 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Sp... |
OMIM:607626 |
| Cystic Fibrosis |
|
Diarrhea, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal... |
OMIM:219700 |
| Fg Syndrome 3 |
|
Cryptorchidism, Pyloric stenosis |
OMIM:300406 |
| Rauch-Steindl Syndrome |
|
Exocrine pancreatic insufficiency, Postnatal growth retardation, Intrauterine growth retardation,... |
OMIM:619695 |
| Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis |
|
Sparse hair, Growth delay |
OMIM:246500 |
| Mpi-Cdg |
|
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Failure to thrive, Dec... |
ORPHA:79319 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Obesity, Cryptorchidism, Sparse body hair |
ORPHA:85274 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Bifid uvula, Webbed neck, Joint contracture of the hand, Cigarette-paper scars, Camptodactyly of ... |
OMIM:612350 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... |
ORPHA:139507 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... |
ORPHA:2722 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Cryptorchidism, Conge... |
OMIM:617602 |
| Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Comedo, Sparse eyelashes, Spar... |
OMIM:604379 |
| Volvulus Of Midgut |
|
Intestinal malrotation, Neonatal intestinal obstruction, Volvulus |
OMIM:193250 |
| Hidrotic Ectodermal Dysplasia |
|
Hyperkeratotic papule, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse eyebro... |
ORPHA:189 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Abnormal fingernail morphology, Sparse hair, Thin skin |
ORPHA:1810 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Failure to thrive, Decreased liver function, Cholestasis, Ascites, In... |
OMIM:608104 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thin skin, Failure to thrive, Thenar muscle atrophy, Flexion contracture, Moderately short stature |
ORPHA:157965 |
| Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Aplasia/Hypoplasia of the skin, Ectopic anus, Short stature, Sacral dimple |
ORPHA:1643 |
| Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Xerostomia, Failure to thrive, Breast aplasia, Trichorrhexi... |
ORPHA:238468 |
| Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, High palate, ... |
OMIM:617941 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule |
ORPHA:1962 |
| Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Failure to thrive, Angioedema, Hypernatremic dehydration, Rec... |
OMIM:256500 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Aplasia/Hypoplasia of the nails, Absent toenail, Absent fifth fingernail, Hypoplastic toenails, A... |
ORPHA:79499 |
| Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea, Fat malabsorption |
OMIM:613291 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato... |
OMIM:616263 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased carni... |
OMIM:212140 |
| Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Intrauterine growth retardation, Bile duct proliferation, Cleft palate |
OMIM:603194 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Distal amyotrophy, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Short stat... |
OMIM:219150 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... |
ORPHA:2298 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Cryptorchidism, Knee... |
OMIM:214150 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Failure to thrive, Villous atrophy... |
OMIM:602579 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Growth delay, Decreased muscle mass, Delayed puberty, Abdominal obesity, Prolonged neonatal jaund... |
ORPHA:631 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
| Seckel Syndrome 10 |
|
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... |
OMIM:617253 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Prolidase Deficiency |
|
Skin ulcer, Abnormal fingernail morphology, White forelock, Splenomegaly, Low anterior hairline, ... |
ORPHA:742 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
| Kondoh Syndrome |
|
Interphalangeal joint contracture of finger, Intrauterine growth retardation, Thick eyebrow, Knee... |
OMIM:606242 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... |
ORPHA:1333 |
| Propionic Acidemia |
|
Hepatomegaly, Pancreatitis, Eczematoid dermatitis, Hypoglycemia |
OMIM:606054 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... |
OMIM:613027 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... |
ORPHA:3363 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Distichiasis, Anal atresia, Sparse hair, Absent lower eyelashes |
OMIM:227260 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... |
ORPHA:412057 |
| Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Spotty hypopigmentation, Absent ey... |
ORPHA:79133 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Premature graying of hair, Congenital pyloric atresia, Alopecia of scalp, C... |
ORPHA:2617 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Dermal atrophy, Alope... |
OMIM:617294 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy, Failure to thrive |
OMIM:615863 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
High anterior hairline, Thin skin, Medial flaring of the eyebrow, Sparse scalp hair, Fragile nails |
OMIM:617364 |
| Adult Syndrome |
|
Alopecia, Absent nipple, Toenail dysplasia, Skin ulcer, Fine hair, Breast hypoplasia, Melanocytic... |
ORPHA:978 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis, Parathyroid adenoma |
OMIM:145980 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Cirr... |
OMIM:269200 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Disproportionate short-limb short stature, Stillbirth, Thin skin |
OMIM:259410 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Shor... |
OMIM:601847 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Feingold Syndrome |
|
Annular pancreas, Abnormality of the spleen, Esophageal atresia, Short stature, Duodenal atresia |
ORPHA:1305 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Pancreatitis, Tubulointerstitial nephritis, Hypoglycemia |
OMIM:251000 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Aplasia/Hypoplasia of ... |
ORPHA:1807 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc... |
OMIM:557000 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
| Alg6-Cdg |
|
Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Jaundice, Macroglossia |
ORPHA:79320 |
| Pearson Syndrome |
|
Postnatal growth retardation, Hepatic steatosis, Hepatomegaly, Hypoparathyroidism, Hypoplastic sp... |
ORPHA:699 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Pyloric stenosis |
OMIM:616924 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Lymphedema, Polyhydramnios, Hydrocele testis, Synophrys |
OMIM:618154 |
| Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Ab... |
ORPHA:2028 |
| Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Postnatal growth retardation, Decreased circulating aldosterone level, Elevated serum 1... |
ORPHA:556030 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Steatorrhea, Colitis, Growth delay, Edema |
ORPHA:309031 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Bile duct proliferation... |
OMIM:607361 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Growth delay, Dehydration |
OMIM:602722 |
| Deeah Syndrome |
|
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrin... |
OMIM:619004 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Breast aplasia, Dermal atrophy, Abnormal eyebrow morphology, Absent eyelashes, Short st... |
ORPHA:90153 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Pol... |
ORPHA:79086 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Pancreatitis, Delayed pube... |
OMIM:232220 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... |
ORPHA:1008 |
| Familial Chylomicronemia Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ... |
ORPHA:444490 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Reticular Dysgenesis |
|
Dehydration, Weight loss, Skin ulcer, Failure to thrive |
ORPHA:33355 |
| Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Dehydration |
ORPHA:289504 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair |
OMIM:601553 |
| Small Bowel Atresia |
|
Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Inte... |
ORPHA:1201 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... |
ORPHA:234 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Vomiting, Growth delay, Dehydration |
OMIM:203400 |
| Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
| Mandibuloacral Dysplasia |
|
Alopecia, Contractures of the large joints, Abnormal tongue morphology, Hypoplastic fingernail, P... |
ORPHA:2457 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Failure to thrive in infancy, Proportionate short stature, Weight loss, Dehydration |
ORPHA:171876 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, Intrahepatic cholestas... |
OMIM:211600 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev... |
ORPHA:64743 |
| Familial Melanoma |
|
Abnormal hair morphology, Neoplasm of the stomach, Nevus, Neoplasm of the pancreas |
ORPHA:618 |
| Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
| Cach Syndrome |
|
Optic neuritis, Hepatosplenomegaly, Pancreatitis |
ORPHA:135 |
| Intussusception |
|
Intussusception |
OMIM:147710 |
| Autosomal Agammaglobulinemia |
|
Dehydration, High palate, Hepatitis, Failure to thrive |
ORPHA:33110 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Striae distensae, Macronodular adrenal hyperplasia, Adrenal hyperplasia,... |
OMIM:219080 |
| Fanconi Anemia, Complementation Group W |
|
Polysplenia, Decreased response to growth hormone stimulation test, Intrauterine growth retardati... |
OMIM:617784 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Fine hair, Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Aplasia/Hypoplasia... |
ORPHA:1812 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Skeletal muscle atrophy, Striae distensae, Obesity, Hirsutism, Abdominal obesi... |
OMIM:219090 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Premature graying of hair, Skeletal muscle hypertrophy, Hepatic steatosis, Splenomegaly, Polycyst... |
ORPHA:280365 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... |
OMIM:301068 |
| Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... |
ORPHA:1876 |
| Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
| Griscelli Syndrome |
|
Silver-gray hair, Hepatitis, Hypopigmented skin patches, White hair, Ascites, Premature graying o... |
ORPHA:381 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
High, narrow palate, Preauricular pit, Cryptorchidism, Sparse hair, Sacral dimple |
OMIM:273390 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pancreatitis, Pericarditis |
ORPHA:188 |
| Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Hypopituitarism, Exocrine pancreatic insufficiency, Decreased response to ... |
ORPHA:811 |
| Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Oligohydramnios, Aplasia cutis congenita, High palat... |
OMIM:616854 |
| Glycogen Storage Disease Ia |
|
Hypoglycemia, Gout, Pancreatitis, Delayed puberty, Fasting hypoglycemia, Hepatomegaly, Hepatocell... |
OMIM:232200 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Testicular seminoma, Short stature, Cryptorchidism |
ORPHA:281090 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Oral leukoplakia, Fine hair, Premature graying of hair, Postnatal growth ret... |
OMIM:612199 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Intestinal atresia, Duodenal atresia |
ORPHA:3405 |
| Adult Syndrome |
|
Absent nipple, Fair hair, Dermal atrophy, Breast hypoplasia, Alopecia of scalp, Sparse axillary h... |
OMIM:103285 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Bifid uvula, Webbed neck, Highly arched eyebrow, High anterior hairline, Failure to thrive, Spars... |
OMIM:617506 |
| Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Cryptorchidism, Hyperechogeni... |
OMIM:617052 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... |
ORPHA:465508 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic islet-cell hyperplasia, Increa... |
ORPHA:263455 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Failure to thrive, Postnatal growth retardati... |
ORPHA:83617 |
| Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... |
ORPHA:31205 |
| Silver-Russell Syndrome 2 |
|
Short stature, Intrauterine growth retardation, Thin skin |
OMIM:618905 |
| Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failure |
OMIM:606812 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal fistula |
OMIM:612567 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:275761 |
| Dysbetalipoproteinemia |
|
Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis, Diabetes mellitus |
ORPHA:412 |
| Familial Cervical Artery Dissection |
|
Striae distensae, Facial palsy, Thin skin |
ORPHA:36382 |
| Trisomy 18P |
|
High, narrow palate, Bilateral cryptorchidism, Pyloric stenosis |
ORPHA:1715 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Exocrine pancreatic insufficiency, Polyhydramnios, Splen... |
OMIM:618268 |
| Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Oligohydramnios, Portal hypertension, Right v... |
OMIM:267010 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Dehydration, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Hiatus hernia, Atrophic scars, Intestinal perforation, Thin skin |
OMIM:130080 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Vomiting, Hyperaldosteronism, Pseudohypoaldosteronism, Dehydration |
OMIM:264350 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Pyloric stenosis |
OMIM:218350 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Webbed neck, Preauricular skin tag, Hypertrichosis, Preauricular pit, Submucous cleft hard palate... |
OMIM:619227 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism |
ORPHA:255210 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici... |
OMIM:619418 |
| Microscopic Polyangiitis |
|
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... |
ORPHA:727 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ... |
OMIM:232700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh... |
OMIM:618935 |
| Focal Dermal Hypoplasia |
|
Abnormality of the nail, Gastroesophageal reflux, Alopecia, Camptodactyly of finger, Acute hepati... |
ORPHA:2092 |
| Vipoma |
|
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentration, Abnor... |
ORPHA:97282 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... |
ORPHA:2126 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Cryptorchidism |
OMIM:175700 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Growth delay, Dehydration |
OMIM:610600 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alopecia of scalp, Aplasia cuti... |
ORPHA:79402 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short stature, High palate, Deep-set nails, Thin skin |
OMIM:201170 |
| Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Ascites, Eosinophilia, Abnormality of the gastrointesti... |
ORPHA:2070 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Bifid uvula, Hepatic fibrosis, Rhizomelia, Sparse scalp hair, Failure to thrive, Fair hair, Chole... |
OMIM:266920 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... |
ORPHA:59303 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented sk... |
ORPHA:2251 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Pancreatic hypoplasia, Failure to thrive, Intestinal malrotation, ... |
OMIM:600001 |
| Legionnaires Disease |
|
Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit... |
ORPHA:549 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Atrophic scars, Milia, Congenital pyloric atresia, Nail dystrophy, Nail dysplasia, Esophageal atr... |
OMIM:226730 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Premature graying of hair, Portal hyp... |
OMIM:620367 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Bifid uvula, Cryptorchidism, High palate, Cleft palate, Pyloric stenosis |
ORPHA:96184 |
| Marshall-Smith Syndrome |
|
Generalized hirsutism, Protruding tongue, Failure to thrive, Thin skin |
ORPHA:561 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Failure to thrive, Dehydration |
OMIM:251120 |
| Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Primary adrenal insufficiency, Cryptorchidism, Decreased circulating corti... |
OMIM:300200 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Failure to thrive, Hypoplastic fingernail, Ascites, Portal... |
ORPHA:974 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... |
ORPHA:2088 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Nephrotic Syndrome, Type 1 |
|
Gastroesophageal reflux, Pyloric stenosis |
OMIM:256300 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Vomiting, Dehydration |
OMIM:620126 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Thin skin |
ORPHA:230839 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... |
ORPHA:2494 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Familial Cold Urticaria |
|
Hyperhidrosis, Dehydration |
ORPHA:47045 |
| Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepatomegaly, Diabetes mellitu... |
OMIM:606069 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Thin skin |
OMIM:613630 |
| Central Diabetes Insipidus |
|
Diarrhea, Dehydration |
ORPHA:178029 |
| Acute Lung Injury |
|
Pneumonia, Acute pancreatitis |
ORPHA:178320 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Pyloric stenosis, Frequent Giardia lamblia... |
OMIM:615577 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Shigellosis |
|
Hepatic failure, Dehydration, Ulcerative colitis, Cholestasis, Failure to thrive in infancy, Rhab... |
ORPHA:810 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Short stature, Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Small for gesta... |
OMIM:613658 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Sparse eyebrow, Tiger tail banding, Nail dystrophy, Sparse hair |
OMIM:619692 |
| Filippi Syndrome |
|
Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidism, De... |
OMIM:272440 |
| Ataxia-Telangiectasia |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Failure to thri... |
ORPHA:100 |
| Cystinosis |
|
Failure to thrive, Portal hypertension, Myopathy, Delayed puberty, Short stature, Dehydration |
ORPHA:213 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Hyperaldosteronism, Pseudohypoaldosteronism, Dehydration |
OMIM:177735 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... |
ORPHA:79303 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Blepharocheilodontic Syndrome 1 |
|
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Aplasia cutis congenita over th... |
OMIM:119580 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Congenital Contractural Arachnodactyly |
|
Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m... |
ORPHA:115 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Cirrhosis, Brittle hair, Curly hair, Hepatomegaly, Jaundice, Sparse hair, Villous at... |
OMIM:222470 |
| De Barsy Syndrome |
|
Failure to thrive, Decreased muscle mass, Postnatal growth retardation, Intrauterine growth retar... |
ORPHA:2962 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Dermal atrophy, Pleural... |
ORPHA:69735 |
| Kaufman Oculocerebrofacial Syndrome |
|
Preauricular skin tag, Sparse eyebrow, Failure to thrive, Intestinal malrotation, Short stature, ... |
OMIM:244450 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity |
OMIM:277400 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Bifid uvula, Abnormal hair whorl, Small hypothenar eminence, Plantar flexion... |
ORPHA:2872 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Severe short stature, Gastroesophageal reflux, Esophagitis, Hiatus hernia, Thin skin |
ORPHA:1901 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Abnormal fingernail morphology, Supernumerary nipple, Abnormal toenail morpholo... |
ORPHA:1809 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis |
OMIM:616355 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Growth delay, Epidermoid cyst, Duodenal atresia, Decreased response to growth hormone... |
OMIM:614114 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Cholestasis, Exocrine pancreatic i... |
OMIM:300972 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Failure to thrive, Dehydration |
OMIM:560000 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... |
ORPHA:562639 |
| Noonan Syndrome 6 |
|
Webbed neck, Growth delay, Multiple lentigines, Cryptorchidism, Low posterior hairline, Short sta... |
OMIM:613224 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
| Growth Hormone Deficiency, Isolated Partial |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Small pituit... |
OMIM:615925 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebr... |
ORPHA:1818 |
| Liver Disease, Severe Congenital |
|
Dry hair, Portal inflammation, Hepatic steatosis, Pulmonary edema, Abnormal hepatic echogenicity,... |
OMIM:619991 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Hepatitis, Increased circulating prolactin concentration, Goiter, Cholestasis... |
ORPHA:562 |
| Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Exocrine pancreatic insufficiency, Short stature, Steatorrhea |
OMIM:260400 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Severe short stature, Thin skin |
ORPHA:1899 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Dysphagia, Pyloric stenosis |
OMIM:619461 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... |
OMIM:614931 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin |
ORPHA:743 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration, Rectal prolapse, Peritonitis, Pancreatitis, Colonic stenosis, Acute colitis, Intesti... |
ORPHA:90038 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Hypoglycemia, Hepatosplenomegaly, Synovitis, Pancreatitis, Myocarditis, Pro... |
ORPHA:499009 |
| Glass Syndrome |
|
Long eyelashes, Facial hypotonia, Nail dysplasia, Camptodactyly, Short stature, High palate, Spar... |
OMIM:612313 |
| Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Elbow flexion contracture, Cryptorchidism, Splenomegaly, Low anterior... |
OMIM:618440 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Aplas... |
OMIM:305100 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Intrauter... |
OMIM:616395 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
| Myopathy, Centronuclear, X-Linked |
|
High palate, Cryptorchidism, Pyloric stenosis |
OMIM:310400 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Obesity, Low posterior hairline, Sparse facial hair, Short stature, Absent f... |
ORPHA:2183 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Abnormal peritoneum morphology, Abnor... |
ORPHA:2357 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Atypical scarring of skin, Thin skin |
OMIM:225310 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Dyskeratosis Congenita |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Spars... |
ORPHA:1775 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Thin eyebrow, Upper eyelid edema, Protruding tongue, Synophrys, High palate, Cafe-au-lait spot, W... |
OMIM:617804 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Short stature, Sparse hair, Cafe-au-... |
OMIM:618625 |
| Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja... |
ORPHA:521219 |
| Hypercalcemia, Infantile, 1 |
|
Vomiting, Dehydration |
OMIM:143880 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Microglossia, Failure to thrive, Anteriorly placed anus, Elbow flexion contracture, Intrauterine ... |
OMIM:151050 |
| Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Spa... |
ORPHA:634 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... |
OMIM:613986 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pancreatitis, Hepatic steatosis |
OMIM:236200 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Ascites... |
ORPHA:1655 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Failure to thrive, Hypopituitarism, Genital edema, Nail dyst... |
ORPHA:98813 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia, Premature graying of hair |
OMIM:277175 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Nail ... |
OMIM:175500 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Tendon rupture, Thick eyebrow, Left ventricular hypertrophy, Short stature, High ... |
ORPHA:230851 |
| Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Severe short stature, Alopecia, Highly arched eyebrow, Long eyelashes, Curly... |
ORPHA:3051 |
| Chylomicron Retention Disease |
|
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, Failure to ... |
OMIM:246700 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Hepatomegaly, Camptodactyly of finger, Duodenal stenosis |
ORPHA:1759 |
| Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Cleft palate |
OMIM:611561 |
| Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Disproportionate short-limb short stature, Small for gestational age, ... |
OMIM:166210 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... |
ORPHA:1433 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Lymphedema, Pancreatic lymphangiectasis, Ascites, Hy... |
OMIM:235255 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
| Glucose/Galactose Malabsorption |
|
Chronic diarrhea, Hypertonic dehydration |
OMIM:606824 |
| Moynahan Syndrome |
|
Short stature, Alopecia, Cachexia, Sparse hair |
ORPHA:2574 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Ovar... |
OMIM:269880 |
| Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Hypopigmented skin patches, Oral leukoplakia, Skin ulcer, Dystrophic toenail, Ankylog... |
ORPHA:2907 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Exocrine pancreatic insufficiency, Intrauterine growth retard... |
OMIM:620005 |
| Witkop Syndrome |
|
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... |
OMIM:189500 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Intrahepa... |
OMIM:214950 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Isovaleric Acidemia |
|
Vomiting, Dehydration |
OMIM:243500 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteom... |
ORPHA:2552 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Bile duct proliferation, Cleft palate |
OMIM:611134 |
| Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Intrauterine growth ret... |
OMIM:603467 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse hair, Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Sparse scalp hair, Decreas... |
OMIM:129900 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia, Polysplenia |
OMIM:619608 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Nevus, Trichorrhexis nodosa, Furrowed tongue, Milia, Pili torti, Sparse hair, Tricho... |
OMIM:301845 |
| Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... |
OMIM:615363 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Skin ulcer, Ascites, Abnormal gastric mucosa morphology, Cir... |
ORPHA:779 |
| Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Pyloric stenosis |
ORPHA:169189 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Keloids, Sparse body hair, Congenital onychodystrophy, Nail dystr... |
ORPHA:2890 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus |
ORPHA:565612 |
| Heyn-Sproul-Jackson Syndrome |
|
Severe short stature, Intrauterine growth retardation, Sparse hair, Decreased body weight |
OMIM:618724 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Trigonocephaly 1 |
|
High, narrow palate, Preauricular skin tag, Meckel diverticulum, Synophrys |
OMIM:190440 |
| Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Gastroesophageal reflux, Failure to thrive, Breast hypoplasia, Int... |
OMIM:224690 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Dehydration |
OMIM:620125 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Failure to thrive, Hepatic... |
ORPHA:71 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Abd... |
OMIM:300869 |
| Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Type I diabetes mellitus, Uveitis, Hepatitis, Cholestasis, Hepa... |
ORPHA:171 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hyperglycemia, Hypothyroidism |
ORPHA:90065 |
| Lamellar Ichthyosis |
|
Aplasia/Hypoplasia of the eyebrow, Short stature, Sparse hair, Abnormality of the nail, Dehydration |
ORPHA:313 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Generalized edema, Peritoneal effusion, Intesti... |
ORPHA:90362 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Frontal upsweep of hair, Cryptorchidism, Gastrointestinal dysmotility, Bl... |
OMIM:617798 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Abnormal testis morphology, Apla... |
ORPHA:202 |
| Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Sparse lateral eyebrow, Dermal atrophy, Thin eyebrow, Sparse eyelashes, Low ... |
ORPHA:1787 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Delayed menarche, Hepatic steatosis, Pancreatitis, Hepatomegaly, Hepatocellular... |
ORPHA:247585 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Pancreatitis, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas |
ORPHA:370348 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Paronychia, Failure to thrive, Villous atrophy, Duodenitis, Onychogryposis |
OMIM:614328 |
| Fryns Syndrome |
|
Joint contracture of the hand, Meckel diverticulum, Chylothorax, Polysplenia, Small nail, Intesti... |
OMIM:229850 |
| Friedreich Ataxia 2 |
|
Decreased pyruvate carboxylase activity, Diabetic ketoacidosis |
OMIM:601992 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... |
ORPHA:652 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertension |
ORPHA:440713 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... |
ORPHA:769 |
| 2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Decreased testicular size, Short stature, High palate, Sparse hair, Growth delay, Clef... |
ORPHA:251019 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
| Neutral Lipid Storage Disease With Myopathy |
|
Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus |
OMIM:610717 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Atrophic scars, Milia, Nail dystrophy, Aplasia cutis congenita, Anonychia, Abnormal... |
ORPHA:79411 |
| Tetrasomy 12P |
|
Sparse eyebrow, Cachexia, Short stature, Abnormal soft palate morphology, Anal atresia, Sparse hair |
ORPHA:884 |
| D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decrea... |
OMIM:261515 |
| Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Premature graying of hair, Elbow flexion contracture, Decreased body wei... |
OMIM:616200 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Smooth tongue, Elbow flexion contracture, Milia, Oligohydramnios, Int... |
OMIM:601559 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cleft palate, Cysti... |
OMIM:612284 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis |
ORPHA:391673 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
| Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Hyperconvex thumb nails, Hirsutism, Short stature, Growth delay, Absent ... |
OMIM:620370 |
| Adams-Oliver Syndrome 6 |
|
Aplasia cutis congenita of scalp, Hepatic fibrosis, Portal hypertension, Splenomegaly, Hypoplasti... |
OMIM:616589 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Milia, Sparse or absent eyelashes, Pili torti,... |
ORPHA:113 |
| Atypical Werner Syndrome |
|
Premature graying of hair, Abnormal hair morphology, Sparse body hair, White forelock, Hepatic st... |
ORPHA:79474 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Obesity, Cryptorchidism, Hepatomegaly, High palate, Sparse hair, Short... |
OMIM:619185 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hepatic periportal necrosis |
ORPHA:26791 |
| Xp22.13P22.2 Duplication Syndrome |
|
High anterior hairline, Congenital diaphragmatic hernia, Polycystic ovaries, Macroorchidism, Trun... |
ORPHA:284180 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Dermal atrophy, Nail dystrophy, Delayed puberty, Calcinosis, ... |
ORPHA:90154 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
| Alg1-Cdg |
|
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Decreased liver function |
ORPHA:79327 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:600740 |
| Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Small nail, Fine hair, Fa... |
ORPHA:96149 |
| Ebola Hemorrhagic Fever |
|
Maculopapular exanthema, Acute pancreatitis, Hepatitis |
ORPHA:319218 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Sparse body hair, Fundic gland polyposis, Sparse axillary hair, Absent eyebrow... |
OMIM:608615 |
| Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
| Marden-Walker Syndrome |
|
High, narrow palate, Cryptorchidism, Zollinger-Ellison syndrome, High palate, Cleft palate, Pylor... |
OMIM:248700 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Intrauterine growth retardation, Hepatic steatosis, Polyhydramnios, Flexion contractu... |
OMIM:616271 |
| Anauxetic Dysplasia 2 |
|
Small nail, Intrauterine growth retardation, Nail dysplasia, Short stature, Macroglossia, Flexion... |
OMIM:617396 |
| Localized Junctional Epidermolysis Bullosa |
|
Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atrophic, patchy alopeci... |
ORPHA:251393 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Cystinosis, Nephropathic |
|
Growth delay, Exocrine pancreatic insufficiency, Splenomegaly, Primary hypothyroidism, Hypohidros... |
OMIM:219800 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hypoglycemic seizures, Periodontitis, Hypoglycemia, Gout, He... |
ORPHA:79259 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hypoplastic fingernail, Postnatal growth retardation, Intrauterine growth retardation, Oligohydra... |
ORPHA:96191 |
| Mednik Syndrome |
|
Abnormal intestine morphology |
ORPHA:171851 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Pyloric stenosis |
ORPHA:2409 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Fine hair, Furrowed tongue, Tracheoesophageal fistula, Anorectal anomaly, Sparse hair |
ORPHA:1839 |
| Premature Aging Syndrome, Penttinen Type |
|
Keloids, Failure to thrive, Dermal atrophy, Corneal stromal edema, Flexion contracture of finger,... |
OMIM:601812 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Alopecia, Sparse eyebrow, Annular pancreas, Anteriorly placed anus, Premature graying of hair, De... |
OMIM:268400 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Elevated stool chloride content, Polyhydramnios, Growth delay, Dehydration |
OMIM:214700 |
| Cardiofaciocutaneous Syndrome 4 |
|
Multiple lentigines, Decreased response to growth hormone stimulation test, Polyhydramnios, Alope... |
OMIM:615280 |
| Cog8-Cdg |
|
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Skeletal mus... |
ORPHA:95428 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Sparse scalp hair, Skin ulcer, ... |
ORPHA:99889 |
| Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607748 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... |
ORPHA:512 |
| Xeroderma Pigmentosum |
|
Alopecia, Hypopigmented skin patches, Failure to thrive, Dermal atrophy, Melanocytic nevus, Decre... |
ORPHA:910 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Vomiting, Hypertonic dehydration, Constipation |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Vomiting, Hypertonic dehydration, Constipation |
OMIM:304800 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Exocrine pancreatic insufficiency, Cirrhosis |
OMIM:616539 |
| Acces Syndrome |
|
Aplasia cutis congenita of scalp, Failure to thrive, Supernumerary nipple, Tracheoesophageal fist... |
OMIM:619959 |
| Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Absent eyebrow, Curly hair, High palate, Sparse hair |
OMIM:615278 |
| Colonic Atresia |
|
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ... |
ORPHA:1198 |
| Zygomycosis |
|
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... |
ORPHA:73263 |
| Adams-Oliver Syndrome 5 |
|
Dystrophic toenail, Cutis marmorata telangiectatica congenita, Hypersplenism, Absent toenail, Spl... |
OMIM:616028 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Abnormal toenail morphology, Skin plaque, ... |
ORPHA:89843 |
| Cranioectodermal Dysplasia 2 |
|
Sparse hair, Rhizomelia, Portal fibrosis, Elevated circulating hepatic transaminase concentration... |
OMIM:613610 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anal fissure, Ankyloglossia, Absent toenail, Decreased body weight, Dysphagia, Esophageal stenosi... |
ORPHA:89842 |
| Chronic Granulomatous Disease |
|
Tracheoesophageal fistula, Pyloric stenosis |
ORPHA:379 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Dehydration, Lipid accumulation in hepat... |
ORPHA:20 |
| Orofaciodigital Syndrome Type 1 |
|
Exocrine pancreatic insufficiency, Hamartoma of tongue, High palate, Pancreatic cysts, Cleft pala... |
ORPHA:2750 |
| Arterial Tortuosity Syndrome |
|
Bifid uvula, Congenital diaphragmatic hernia, Hiatus hernia, High palate, Flexion contracture, Th... |
OMIM:208050 |
| Esophageal Atresia |
|
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Small for gestational age... |
ORPHA:1199 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
| Fanconi Anemia, Complementation Group S |
|
Sparse hair, Failure to thrive, Long eyelashes, Ovarian carcinoma, Low anterior hairline, Short s... |
OMIM:617883 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Cryptorchidi... |
ORPHA:93932 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615453 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita of scalp, Skin erosion, Muscular dystrophy, Atrophic scars, Milia, Congen... |
ORPHA:158684 |
| Refractory Celiac Disease |
|
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Jejunitis, V... |
ORPHA:398063 |
| Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Hyperparathyroidism, ... |
ORPHA:913 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatomegaly, I... |
OMIM:608594 |
| Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Cryptorchidism, Midgut malrotation, Cleft palate, Pyloric stenosis |
OMIM:263750 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp... |
OMIM:200995 |
| Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Villous atrophy, Splenomegaly, Enterocolitis, Short stature |
OMIM:616050 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Skin erosion, Alopecia, Failure to thrive, Edema, Dehydration, Nail dystrophy, Aplasia cutis cong... |
ORPHA:79404 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
| Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Dehydration, Osmotic diarrhea |
ORPHA:35710 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse eyebrow, Sparse scalp hair, Hypoplastic pilosebaceous units, Sparse eyelashes, Hypoplastic... |
OMIM:601345 |
| Visceral Myopathy 1 |
|
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... |
OMIM:155310 |
| Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Thin skin, Esophagitis, Median cleft palate, Hiatus hernia, Pyloric sten... |
ORPHA:3342 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Hypoglycemia, Chronic pancreatitis, Gout, Hepatoblastoma, De... |
OMIM:232240 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Celiac disease, Delayed puberty, Postnatal growth retardation |
OMIM:618985 |
| Mednik Syndrome |
|
Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Jejunal atresia, Neonatal death, Cirrhosis, ... |
OMIM:609313 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Premature graying of hair, Limb muscle weakness, Myopathy, Limb-girdle m... |
OMIM:112250 |
| Mhc Class Ii Deficiency 1 |
|
Failure to thrive, Villous atrophy, Biliary tract abnormality, Cholangitis, Colitis, Viral hepatitis |
OMIM:209920 |
| Fryns Syndrome |
|
Gastroesophageal reflux, Hypoplastic fingernail, Intestinal malrotation, Cryptorchidism, Congenit... |
ORPHA:2059 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Celiac disease, Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Abnormality of thyroid physiology, Pancreatitis |
ORPHA:1830 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Short stature, Jaundice, Pancreat... |
OMIM:208500 |
| Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
| Johnson Neuroectodermal Syndrome |
|
Severe short stature, Alopecia, Failure to thrive, Absent eyelashes, Facial palsy, Multiple cafe-... |
ORPHA:2316 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cryptorchidism, Short stature, Hypopigmentation of hair, Growth delay, Thin skin |
ORPHA:2719 |
| Progeroid Syndrome, Petty Type |
|
Failure to thrive, Abnormal hair morphology, Intrauterine growth retardation, Thick eyebrow, Long... |
ORPHA:2963 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Congenital adrenal hyperplasia, Decreased testicular size, Cryptorchidism, Hir... |
ORPHA:90791 |
| Irida Syndrome |
|
Abnormal intestine morphology |
ORPHA:209981 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Neoplasm of the pancreas, Ovari... |
OMIM:175200 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Lymphedema, Elbow flexion contracture, Atrophic scars, Cryptorchidism, Multipl... |
ORPHA:536471 |
| Ablepharon Macrostomia Syndrome |
|
Fine hair, Camptodactyly of finger, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, A... |
ORPHA:920 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Lower limb muscle weakness, Pleural effusion, Recurrent pancreatitis, Sparse h... |
OMIM:606721 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Postnatal growth retardation, Thick eyebrow, Achilles tendon contracture, Short stature, Sparse h... |
OMIM:611091 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Cleft palate, Pyloric stenosis |
ORPHA:435638 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Edema, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Ade... |
ORPHA:329971 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Chilblains, Hypothy... |
OMIM:619487 |
| Cushing Disease |
|
Sparse scalp hair, Skin ulcer, Striae distensae, Adrenal hyperplasia, Hirsutism, Increased body w... |
ORPHA:96253 |
| Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... |
OMIM:164280 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Growth delay, Skeletal muscle atrophy, Villous atrophy, Splenomegaly,... |
OMIM:614162 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Failure to thrive, Intrauterine growth retardation, Cryptorchidism... |
OMIM:247200 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Pancreatitis, Bilateral cryptorchidism |
OMIM:619471 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatomegaly, Impaired gluc... |
OMIM:248370 |
| Cat Eye Syndrome |
|
Preauricular skin tag, Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Prea... |
OMIM:115470 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation |
OMIM:249210 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cirrhosis, ... |
OMIM:242150 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Hepatic fibrosis, Short uvula, Fine hair, Ascites, Nail dysplasia, Aplasia/Hypoplasi... |
OMIM:614091 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Reduced hair sulfur content, Panhypopituitarism, Decreased testicular size, Intra... |
OMIM:300953 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Curry-Jones Syndrome |
|
Intestinal malrotation, Aplasia/Hypoplasia of the skin, Generalized hirsutism, Hypopigmented skin... |
ORPHA:1553 |
| Cystic Fibrosis |
|
Gastroesophageal reflux, Exocrine pancreatic insufficiency, Abnormality of the liver, Rectal prol... |
ORPHA:586 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Postnatal growth retardation, Intrauterine growth retardation, Oligohy... |
OMIM:257300 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Aplasia/Hypoplasia of the skin, Weight loss, Hepatomegaly, Subcutaneous nodule, Edema |
ORPHA:33577 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Intrauterine growth retardation, Cryptorchidism, Delayed puberty, Short stature, Spars... |
OMIM:616817 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Intestinal obstr... |
OMIM:601675 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis |
ORPHA:449427 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Cleft palate, Pyloric stenosis |
ORPHA:261197 |
| Stromme Syndrome |
|
Accessory spleen, Intestinal malrotation, Myopathy, Jejunal atresia, Stillbirth, Duodenal atresia... |
OMIM:243605 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... |
OMIM:618329 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Cryptorchidism, Focal dermal aplasia/hypoplasia, Cleft palate |
OMIM:164180 |
| Juvenile Polyposis Syndrome |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Juvenile colonic... |
ORPHA:2929 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries,... |
OMIM:269700 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Dermal atrophy, Gastrointestinal infarctions, Pl... |
ORPHA:679 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Flexion contracture... |
ORPHA:2850 |
| Ulnar-Mammary Syndrome |
|
Breast aplasia, Cryptorchidism, Ectopic anus, Hypoplastic nipples, Anal atresia, Pyloric stenosis |
ORPHA:3138 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, High anterior hairline, Gastroesophageal reflux, Failure to thrive, Decrease... |
OMIM:615873 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Xerostomia, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eye... |
OMIM:614941 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Short stature |
ORPHA:508498 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Anterior hypopituitarism, Sparse body hair |
ORPHA:181 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Oral leukoplakia, Failure to thrive, Intrauterine growth retardation, Nail dystrophy, S... |
OMIM:616353 |
| Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... |
ORPHA:157794 |
| Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ... |
ORPHA:2538 |
| Superficial Epidermolytic Ichthyosis |
|
Edema, Thin skin |
ORPHA:455 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Slender build, Intrauterine growth retardation, Sparse axillary hair, Sparse f... |
OMIM:608154 |
| Garg-Mishra Progeroid Syndrome |
|
Small nail, Postnatal growth retardation, Microvesicular hepatic steatosis, Short stature, Sparse... |
OMIM:620601 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m... |
ORPHA:99880 |
| Beckwith-Wiedemann Syndrome |
|
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Polyhydramnios, Splenomegaly, Cr... |
ORPHA:116 |
| Jacobsen Syndrome |
|
Webbed neck, Annular pancreas, Intestinal malrotation, Intrauterine growth retardation, Cryptorch... |
ORPHA:2308 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Ascites, Villous atrophy, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pericar... |
OMIM:608776 |
| Ppoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Cholelithiasis, Pituitary adenoma, Increas... |
ORPHA:97278 |
| Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Pineal cyst, Hepatomegaly, Diabetes mellitus |
ORPHA:98908 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Aplasia cutis congenita of scalp, Sparse eyebrow, Failure to thrive, Postnatal growth retardation... |
OMIM:613026 |
| 2Q37 Microdeletion Syndrome |
|
Supernumerary nipple, Pyloric stenosis |
ORPHA:1001 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Gastroesophageal reflux, Thin skin |
ORPHA:449291 |
| Familial Mediterranean Fever |
|
Erysipelas, Splenomegaly, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthrit... |
ORPHA:342 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Failure to thrive, High palate, Sparse hair, Dysphagia, Flexion contracture |
OMIM:620001 |
| Serkal Syndrome |
|
Malrotation of small bowel, Oligohydramnios, Growth delay, Congenital diaphragmatic hernia |
ORPHA:139466 |
| Microform Holoprosencephaly |
|
Panhypopituitarism, Intrauterine growth retardation, EMG: myopathic abnormalities, Short stature,... |
ORPHA:280200 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Postnatal growth retardation, Oligohydramnios, Multiple joint contractures, Torti... |
ORPHA:536467 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, High palate, Submucous cleft hard palate, Pyloric stenosis |
ORPHA:457279 |
| Koolen-De Vries Syndrome |
|
High, narrow palate, Cryptorchidism, Narrow palate, Cleft palate, Pyloric stenosis |
ORPHA:96169 |
| Braddock-Carey Syndrome 1 |
|
Anteriorly placed anus, Curly hair, Camptodactyly, Sparse hair, Growth delay, Cleft palate |
OMIM:619980 |
| Pauci-Immune Glomerulonephritis |
|
Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ... |
ORPHA:93126 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Trichorrhexis nodosa, Abnormality of the liver, Villous atrophy, Intrauterine g... |
ORPHA:84064 |
| Zellweger Syndrome |
|
High palate, Cryptorchidism, Pyloric stenosis |
ORPHA:912 |
| Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,... |
ORPHA:143 |
| Ablepharon-Macrostomia Syndrome |
|
Anteriorly placed anus, Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eye... |
OMIM:200110 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Biliary atresia, Esophageal atresia, Short stature, Growth delay |
OMIM:615272 |
| Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Abn... |
ORPHA:449395 |
| Cardiofaciocutaneous Syndrome |
|
Webbed neck, Fine hair, Lymphedema, Multiple lentigines, Functional abnormality of the gastrointe... |
ORPHA:1340 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... |
ORPHA:64744 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Intestin... |
OMIM:615485 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
| Coccidioidomycosis |
|
Pneumonia, Folliculitis, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, ... |
ORPHA:228123 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Joint contracture of the hand, Intestinal lymphangiectasia, Lymphedem... |
OMIM:235510 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes... |
OMIM:226980 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive, Fine hair |
ORPHA:2118 |
| Johanson-Blizzard Syndrome |
|
Intrahepatic cholestasis, Hepatic fibrosis, Colonic diverticula, Generalized edema, Anasarca, Ant... |
OMIM:243800 |
| Schopf-Schulz-Passarge Syndrome |
|
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr... |
OMIM:224750 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Small for gestational age, Failure to thrive, Breast hypoplasia, Intraut... |
ORPHA:464306 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Annular pancreas, Small nail, Furrowed tongue, Intrauterine growth retar... |
OMIM:616975 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Gastrointestinal dysmotility, Macroglossia,... |
ORPHA:363705 |
| Restrictive Dermopathy 1 |
|
Skin erosion, Sparse eyebrow, Short nail, Intrauterine growth retardation, Oligohydramnios, Aplas... |
OMIM:275210 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anteriorly placed anus, Cryptorchidism, Anal atresia, High palate, Pyloric stenosis |
OMIM:619148 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Spondyloocular Syndrome |
|
Webbed neck, Lymphedema, Decreased body weight, Low posterior hairline, Short stature, Unilateral... |
OMIM:605822 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... |
OMIM:174900 |
| Melas |
|
Type I diabetes mellitus, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pan... |
ORPHA:550 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Familial Adenomatous Polyposis |
|
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Biliary t... |
ORPHA:733 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric ulcer, Pleu... |
OMIM:147060 |
| Opitz-Kaveggia Syndrome |
|
Narrow palate, Anal stenosis, Joint contracture of the hand, Anteriorly placed anus, Fine hair, I... |
OMIM:305450 |
| Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Growth delay, Duo... |
OMIM:300514 |
| Scarf Syndrome |
|
Webbed neck, Diastasis recti, Cryptorchidism, Low posterior hairline, Hypoplastic nipples, Hepato... |
ORPHA:3134 |
| Behçet Disease |
|
Recurrent aphthous stomatitis, Splenomegaly, Orchitis, Increased inflammatory response, Myositis,... |
ORPHA:117 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair |
OMIM:129490 |
| Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology |
ORPHA:438274 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Dysphagia, Pyloric stenosis |
OMIM:613327 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Fasting hypoglycemia, Hepatomegaly |
OMIM:227810 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Frontal balding, Polyhydramnios, Facial diplegia, Testicular atrophy, Dysphagia |
OMIM:160900 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Failure to thrive, Hepatitis, Villous atrophy, Ileus, Eosinophilia |
OMIM:304790 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Camptodactyly of finger, Duodenal stenosis |
ORPHA:2547 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Muscular dystrophy, Growth delay, Ascites, Intrauterine growth retardation, Stomach cancer, Intes... |
ORPHA:1052 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Oral leukoplakia, Premature graying of hair, Dermal atrophy, Ridged nail, Hepatic necro... |
OMIM:127550 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... |
ORPHA:220460 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair, Decreased testicular size, Obesity, Eunuchoid habitus, Short stature |
ORPHA:2234 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Joint contracture of the hand, Arthrogryposis multiplex congenita, Failure to thrive... |
OMIM:601110 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Gastrointestinal hemorrhage, Gastroesophageal reflux, Infancy onset ... |
ORPHA:508488 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Intrauterine growth retardation, Oligohydramnios, Sparse hair, Dysphagia, Small for gestational age |
OMIM:618253 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Webbed neck, Accessory spleen, Camptodactyly of finger,... |
OMIM:249000 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Intrauterine growth retardation, Jaundice, Glossitis, Hydrops fetalis, Growth ... |
ORPHA:79282 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Skin vesicle, Sparse axillary ha... |
OMIM:613102 |
| Werner Syndrome |
|
Abnormal hair whorl, Gastrointestinal carcinoma, Skeletal muscle atrophy, Skin ulcer, Premature g... |
ORPHA:902 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati... |
OMIM:265380 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
| Congenital Tracheal Stenosis |
|
Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Oligohydramni... |
ORPHA:141127 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Gastroesophageal reflux, Failure to thrive, Duodenal atresia, Intraute... |
ORPHA:464311 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:246450 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Alopecia totalis, Nail dystrophy, Aplasia/Hypoplasia of the skin, Subc... |
ORPHA:1366 |
| Aredyld Syndrome |
|
Sparse body hair, Intrauterine growth retardation, Splenomegaly, Cachexia, Aplasia/Hypoplasia of ... |
ORPHA:1133 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Decreased testicular size, Thick eyebrow, Cryptorchidism, Camptodactyly ... |
ORPHA:127 |
| Alagille Syndrome 1 |
|
Cholestasis, Exocrine pancreatic insufficiency, Reduced number of intrahepatic bile ducts, Cirrho... |
OMIM:118450 |
| Cartilage-Hair Hypoplasia |
|
Anal stenosis, Absent pubertal growth spurt, Neonatal short-limb short stature, Sparse eyebrow, F... |
OMIM:250250 |
| Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Oral leukoplakia, Failure to thrive, Premature graying of h... |
ORPHA:3322 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular skin pits, ... |
ORPHA:79100 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Cachexia, Duodenal ulcer |
ORPHA:3217 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatit... |
ORPHA:449563 |
| Granulomatosis With Polyangiitis |
|
Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, Sinusitis, I... |
ORPHA:900 |
| Noonan Syndrome 14 |
|
High, narrow palate, Webbed neck, Sparse eyebrow, Polyhydramnios, Cryptorchidism, Low posterior h... |
OMIM:619745 |
| Kleefstra Syndrome |
|
Gastroesophageal reflux, Supernumerary nipple, Cryptorchidism, Macroglossia, Pyloric stenosis |
ORPHA:261494 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Gastric ulcer, Esophageal ulceration |
OMIM:618372 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Gastrointestinal carcinoma, Epidermoid cyst, Duodenal adenocarcinoma, Duodenal polyposis, Pilomat... |
ORPHA:247806 |
| Glycerol Kinase Deficiency |
|
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchidism |
OMIM:307030 |
| Wiedemann-Rautenstrauch Syndrome |
|
Generalized amyotrophy, Sparse eyebrow, Alopecia, Failure to thrive, Small nail, Intrauterine gro... |
OMIM:264090 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Septic arthritis, Pancreatitis, Myocarditis, Diabetes mellitus, Acute colitis |
ORPHA:544482 |
| Gardner Syndrome |
|
Gastrointestinal carcinoma, Keloids, Epidermoid cyst, Adenomatous colonic polyposis, Ampulla of V... |
ORPHA:79665 |
| Down Syndrome |
|
Narrow palate, Macroglossia, Gastroesophageal reflux, Obesity, Protruding tongue, Aganglionic meg... |
ORPHA:870 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Dermal atrophy, Erythematous papule, Sparse lateral eyebrow |
ORPHA:3406 |
| Grfoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Cholelithiasis, Pituitary adenoma, Increas... |
ORPHA:97261 |
| Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ... |
OMIM:150400 |
| Geroderma Osteodysplastica |
|
Severe short stature, Growth delay, Thin skin |
ORPHA:2078 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Striae distensae, Truncal obesity, Thin skin |
OMIM:610489 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Nail dystrophy, Colitis, Esophagea... |
OMIM:615190 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Intrauterine growth retardation, Proportionate short stature, Decreased body weight, S... |
ORPHA:391408 |
| Dend Syndrome |
|
Vomiting, Dehydration |
ORPHA:79134 |
| Desmosterolosis |
|
Severe short stature, Bifid uvula, Failure to thrive, Intestinal malrotation, Dermal atrophy, Int... |
ORPHA:35107 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Edema, Decreased liver function |
ORPHA:79278 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Hypoplastic fingernail, Dermal atrophy, Hyperconvex fingernails, Myopathy, Aplasia/Hypo... |
ORPHA:257 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Webbed neck, Highly arched eyebrow, Chylothorax, Failure to thrive, Fine hair, Lymphedema, Postna... |
OMIM:613563 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Oral-pharyngeal dysphagia, Thin eyebrow, Gastrointestinal dysmotility, Abnorma... |
ORPHA:2131 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Agel Amyloidosis |
|
Diffuse skin atrophy, Xerostomia, Blepharochalasis, Nail dystrophy, Abnormal spleen morphology, F... |
ORPHA:85448 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Webbed neck, Failure to thrive, Multiple lentigines, Large for gestational age... |
OMIM:607721 |
| Hypotrichosis 9 |
|
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... |
OMIM:614237 |
| Scedosporiosis |
|
Abnormal jejunum morphology, Subcutaneous nodule, Pleural empyema |
ORPHA:449280 |
| Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis |
ORPHA:36426 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatosplenomegaly,... |
ORPHA:3260 |
| Tarp Syndrome |
|
Hepatic failure, Meckel diverticulum, Failure to thrive, Intrauterine growth retardation, Oligohy... |
OMIM:311900 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Gastroesophageal reflux, Failure to thrive, Hyperconvex nail, Short stature, Sparse hair |
OMIM:619721 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hematochezia, Anasarca, Ascites, Pleural effusion, Cryptorchidism, Po... |
OMIM:618183 |
| Koolen-De Vries Syndrome |
|
Cryptorchidism, High palate, Narrow palate, Cleft palate, Pyloric stenosis |
OMIM:610443 |
| Desbuquois Syndrome |
|
Severe short stature, Disproportionate short-limb short stature, Camptodactyly of finger, Aplasia... |
ORPHA:1425 |
| Toxic Epidermal Necrolysis |
|
Conjunctivitis, Pancreatitis |
ORPHA:537 |
| Flynn-Aird Syndrome |
|
Dermal atrophy, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm... |
ORPHA:44890 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Short stature, Ankle flexion contracture, Coarse hair, Sparse hair |
OMIM:619985 |
| Auriculocondylar Syndrome 2B |
|
Preauricular skin tag, Failure to thrive, Postnatal growth retardation, Sparse hair, Synophrys |
OMIM:620458 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Webbed neck, Skeletal muscle atrophy, Nevus, Failure to thrive, Camptodactyly of finger, Intraute... |
ORPHA:2990 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic st... |
OMIM:124000 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
| Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Increased hepat... |
OMIM:619525 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Atypical scarring of skin, Gastroesophageal reflux, Sparse scalp hair, Skin ... |
ORPHA:534 |
| Lelis Syndrome |
|
Yellow nails, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Abnormal toenail morpholog... |
ORPHA:140936 |
| Macs Syndrome |
|
Alopecia, Sparse eyebrow, Cryptorchidism, Decreased body weight, Short stature, Palpebral edema, ... |
OMIM:613075 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Short stature, Elevated circulating hepatic transaminase concentration, Sparse hair, Polycystic o... |
OMIM:268020 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Thin skin, Skeletal muscle atrophy, Myopathy, Short stature, High pala... |
ORPHA:536545 |
| Cardiofaciocutaneous Syndrome 1 |
|
Webbed neck, Gastroesophageal reflux, Failure to thrive, Multiple lentigines, Splenomegaly, Submu... |
OMIM:115150 |
| Aceruloplasminemia |
|
Elevated hepatic iron concentration, Abnormal pancreas morphology, Diabetes mellitus |
ORPHA:48818 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated circulating alanine... |
OMIM:619534 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Hepatic fibrosis, Alopecia, Dry hair, Hamartoma of tongue, Ankyloglossia, Milia, Hep... |
OMIM:311200 |
| Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
| Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
| Aplasia Cutis Congenita |
|
Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Congenital lo... |
ORPHA:1114 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:222700 |
| Wiedemann-Rautenstrauch Syndrome |
|
Aplasia/Hypoplasia of the nails, Failure to thrive, Increased circulating prolactin concentration... |
ORPHA:3455 |
| Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hepatic failure, Small for gestational age, Growth delay, Anasarca, Cholestas... |
OMIM:619573 |
| ERI1-related disease |
|
Velopharyngeal insufficiency, Failure to thrive, Intrauterine growth retardation, Decreased body ... |
OMIM:608739 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... |
ORPHA:508 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Failure to thrive in infancy, Hepatosplenomegaly, Villous atrophy, Psoriasi... |
OMIM:606367 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Psoriasiform dermatitis, Eosinophilic infiltration of the esophagus, Sparse ha... |
OMIM:615508 |
| Nephrogenic Diabetes Insipidus |
|
Growth delay, Hypernatremic dehydration, Constipation, Polyhydramnios, Short stature |
ORPHA:223 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Comedo, Ridged nail, Sparse eyelashes, Sparse a... |
OMIM:278150 |
| Gapo Syndrome |
|
High, narrow palate, Alopecia, Sparse eyebrow, Epidermoid cyst, Breast hypoplasia, Sparse eyelash... |
OMIM:230740 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Nail dystrophy, Congenital diaphragmatic hernia, Aplasia cutis congenita, ... |
OMIM:300887 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hepatomegaly,... |
OMIM:612132 |
| Cornelia De Lange Syndrome 1 |
|
High, narrow palate, Gastroesophageal reflux, Cryptorchidism, Hiatus hernia, Hypoplastic nipples,... |
OMIM:122470 |
| Knobloch Syndrome 2 |
|
Pyloric stenosis |
OMIM:618458 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
| Adams-Oliver Syndrome 4 |
|
Toenail dysplasia, Aplasia cutis congenita, Hypoplastic toenails |
OMIM:615297 |
| Apert Syndrome |
|
Bifid uvula, Cryptorchidism, Ectopic anus, Esophageal atresia, Narrow palate, Cleft palate, Pylor... |
OMIM:101200 |
| Mungan Syndrome |
|
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction |
OMIM:611376 |
| Trichodental Dysplasia |
|
Sparse hair, Slow-growing hair, Fine hair, Brittle hair |
OMIM:601453 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Vomiting, Abnormality of the Leydig cells, Decrea... |
ORPHA:168558 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| Osteogenesis Imperfecta, Type X |
|
Pyloric stenosis |
OMIM:613848 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Sparse body hair, Tracheoesophageal fistula, Abnormal muscle fiber morph... |
ORPHA:3068 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Edema |
OMIM:177000 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle hair, Short st... |
ORPHA:1883 |
| Alopecia Antibody Deficiency |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormal eyelash morphology, ... |
ORPHA:1006 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Vomiting, Abnormality of the Leydig cells, Decrea... |
ORPHA:289548 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse p... |
OMIM:618419 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Polysplenia, Abdominal situs inversus, Posteriorly placed anus, Polyhydramnios... |
OMIM:306955 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Intrauterine growth retardation, Sparse hair, Growth delay, Small for ge... |
OMIM:610756 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair |
OMIM:616099 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyebrow, Camptodactyly of finger, Leukonychia, Sparse eyelashes, Short stature, High palat... |
ORPHA:77258 |
| Marburg Hemorrhagic Fever |
|
Uveitis, Hypoglycemia, Skin rash, Orchitis, Pancreatitis, Arthritis, Jaundice, Maculopapular exan... |
ORPHA:99826 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Coarse hair, Failure to thrive, Decreased muscle mass, Postnatal growth retardation, Intrauterine... |
ORPHA:357074 |
| Oculocerebrocutaneous Syndrome |
|
Preauricular skin tag, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Skin... |
ORPHA:1647 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Sparse hair, Alopecia, Sparse eyebrow, Abdominal situs inversus, Sparse body... |
ORPHA:2108 |
| Chromosome 5P13 Duplication Syndrome |
|
Low posterior hairline, High palate, Sparse hair, Small for gestational age |
OMIM:613174 |
| Papillon-Lefèvre Syndrome |
|
Cigarette-paper scars, Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morpholo... |
ORPHA:678 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... |
OMIM:234050 |
| Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Nevus, Fine hair, Bilateral cryptorchidism, Alopecia totalis, Intrauterine growth... |
OMIM:613451 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Polyhydramnios, Short stature, Duodenal atresia |
OMIM:618846 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Splenic cyst, Hepatic sinusoidal dilatation, Pancreatitis, Cryptorchidism |
OMIM:620371 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Ovarian cyst, Adenomatous colonic polyposis |
OMIM:617100 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Xanthelasma, Portal hyp... |
ORPHA:186 |
| Perlman Syndrome |
|
Hypoglycemia, Cryptorchidism, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic nipples, Sparse hair, Small nail |
OMIM:273400 |
| Infantile Nephropathic Cystinosis |
|
Vomiting, Abnormality of thyroid physiology, Constipation, Growth delay, Dehydration |
ORPHA:411629 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Vomiting, Diarrhea, Dehydration |
ORPHA:230 |
| Scorpion Envenomation |
|
Glycosuria, Hyperglycemia, Hyperhidrosis, Myocarditis, Acute pancreatitis |
ORPHA:466677 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair |
OMIM:618535 |
| Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Short stature, Sparse eyebrow, Sparse hair |
OMIM:619989 |
| Knobloch Syndrome |
|
Pyloric stenosis |
ORPHA:1571 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Bila... |
ORPHA:3253 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Alopecia universalis, Cholelithiasis, Alopecia, Nail dystrophy, Chronic activ... |
OMIM:240300 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Gastroesophageal reflux, Rectal prolapse, Pyloric stenosis |
OMIM:613177 |
| Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Short stature, Anal atresia, Duode... |
ORPHA:391641 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Ankyloglossia, Cleft palate, Pyloric stenosis |
ORPHA:261330 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Cachexia, We... |
ORPHA:1979 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Joint swelling, Wrist flexion contracture, ... |
OMIM:618175 |
| Incontinentia Pigmenti |
|
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... |
OMIM:308300 |
| Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, High palate, Ulcerative colitis, Cleft pala... |
OMIM:617137 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Nail dystrophy, Intestinal atresia, Aplasia cutis congenita, Polyhydr... |
ORPHA:79403 |
| Cholera |
|
Vomiting, Diarrhea, Dehydration |
ORPHA:173 |
| Colchicine Poisoning |
|
Nausea, Vomiting, Diarrhea, Dehydration |
ORPHA:31824 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:104100 |
| Barber-Say Syndrome |
|
Failure to thrive, Breast aplasia, Sparse or absent eyelashes, Generalized hirsutism, Aplasia/Hyp... |
ORPHA:1231 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Atrophic scars, Decreased body weight, Joint contracture, Short stature, Sparse hair, Cleft palate |
OMIM:615349 |
| Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Villous atrophy, Growth delay |
OMIM:619510 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Long eyelashes, Upper eyelid edema, Thick eyebrow, Low anterior hairline, Hirsutism, Sparse hair |
OMIM:616819 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Preauricular skin tag, Gastroesophageal reflux, Frontal hirsutism, Failure to thrive, Obesity, In... |
OMIM:617157 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Ankle flexion contracture, Camptodactyly of finger, Intrauterine growth ret... |
ORPHA:468631 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hyperglycemia, Hypoglycemia |
OMIM:620423 |
| Lysinuric Protein Intolerance |
|
Hepatic amyloidosis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, C... |
ORPHA:470 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormal gastrointe... |
ORPHA:2847 |
| Porphyria, Congenital Erythropoietic |
|
Atypical scarring of skin, Cholelithiasis, Alopecia, Joint contracture of the hand, Hypertrichosi... |
OMIM:263700 |
| Flynn-Aird Syndrome |
|
Alopecia, Skeletal muscle atrophy, Skin ulcer, Dermal atrophy, Cachexia |
ORPHA:2047 |
| Hypermobile Ehlers-Danlos Syndrome |
|
High, narrow palate, Atypical scarring of skin, Gastroesophageal reflux, Striae distensae, Gastro... |
ORPHA:285 |
| Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Rhizomelia, Sparse hair, Abnormal toenail morphology |
ORPHA:1515 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating hepatic transaminase concentration, Dermal atrophy, Hepatic steatosis, Crypt... |
OMIM:615381 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Small bowel diverticula, Pyloric stenosis |
ORPHA:90349 |
| Tarp Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Thick eyebrow, Cryptorchidism, Abnormal hair ... |
ORPHA:2886 |
| Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Preauricular skin tag, Dry hair, Growth delay, Failure to thrive, Sparse med... |
OMIM:601358 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Failure to thrive, Postnatal growth retardation, Long eyelashes, Thick eyebrow, Protruding tongue... |
OMIM:212066 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Fine hair, Generalized limb muscle atrophy, Failure to thrive in infancy, Intrauterine growth ret... |
OMIM:618891 |
| Cartilage-Hair Hypoplasia |
|
Rhizomelia, Sparse eyebrow, Disproportionate short-limb short stature, Failure to thrive, Sacral ... |
ORPHA:175 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Splenomegaly, Cholecystitis, Nonimmune hydrops f... |
OMIM:266200 |
| Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Functional abnormality of the gastrointestinal tract, Dermal atrophy, Alopecia tota... |
ORPHA:221008 |
| Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Functional abnormality of the gastrointestinal tract, Dermal atrophy, Alopecia tota... |
ORPHA:221016 |
| Igg4-Related Submandibular Gland Disease |
|
Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of ... |
ORPHA:449432 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... |
ORPHA:231222 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Preauricular skin tag, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptorchidism,... |
OMIM:616682 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Alopecia totalis, Intrauterine growth retardation, Pericardial effusion, Small fo... |
OMIM:618775 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Alopecia, Sparse pubic hair, Sparse eyebrow, Small hypothenar eminence, Br... |
ORPHA:2232 |
| Distal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Constipation, Short stature, Growth delay, Dehydration |
ORPHA:18 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Breast hypoplasia, Decreased testicular size, Eunuchoid habitus, Cryptorchidism... |
ORPHA:432 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Sparse eyebrow, Fine hair, Dermal atrophy, Cryptorchidism, Proportionate sho... |
OMIM:234100 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
| Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer |
ORPHA:409 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Failure to thrive, Polyhydramnios, Short stature, Small for gestational age,... |
OMIM:601678 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Ascites, Cholecystitis, Intermittent jaundice, Biliary tract obstruction,... |
ORPHA:100086 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Vil... |
OMIM:212065 |
| Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Pyloric stenosis |
OMIM:147791 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Hepatitis, Villous atrophy, Splenomegaly, Joint swelling, Crohn's disease, G... |
OMIM:619381 |
| Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Alopecia, Cigarette-paper scars, Gastrointestinal infarctions, Melanocytic n... |
ORPHA:286 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyebrow, Failure to thrive, Postnatal growth retardation, Sparse eyelashes, Pa... |
OMIM:302960 |
| Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Dry hair, Postnatal growth retardation, Hypoplastic fifth fingernail, Cryp... |
OMIM:135900 |
| Familial Adenomatous Polyposis 1 |
|
Keloids, Epidermoid cyst, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps, H... |
OMIM:175100 |
| Kid Syndrome |
|
Sparse hair, Trichilemmoma, Sparse eyebrow, Failure to thrive, Postnatal growth retardation, Psor... |
ORPHA:477 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Naevus flammeus of the eyelid, Annular pancreas, Congenital contracture, Hypertri... |
ORPHA:97297 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating hepatic transaminase concentration, Dysphagia, Rhabdomyolysis, Dehydration |
ORPHA:94093 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Sparse hair |
OMIM:614105 |
| White-Sutton Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Failure to thrive, Obesity, Intrauterine growth retardation... |
OMIM:616364 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Intestinal bleeding, Epidermoid cyst, Duodenal polyposis, Low posterior hairline, Hepatoblastoma,... |
ORPHA:261584 |
| Hamamy Syndrome |
|
Preauricular skin tag, Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Cr... |
OMIM:611174 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
High, narrow palate, Gastroesophageal reflux, Toenail dysplasia, Oral-pharyngeal dysphagia, Postn... |
OMIM:300966 |
| Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hep... |
OMIM:276700 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair |
OMIM:619691 |
| Proximal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Mild postnatal growth retardation, Short stature, Growth delay, Dehydration |
ORPHA:47159 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Premature graying of hair, Dermal atrophy, Postnatal growth retardation, Wh... |
OMIM:113620 |
| Marshall-Smith Syndrome |
|
Anteriorly placed anus, Bilateral cryptorchidism, Cryptorchidism, High palate, Glossoptosis, Pylo... |
OMIM:602535 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S... |
ORPHA:1071 |
| Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Disproportionate short-limb short stature, Sparse lateral eyebrow, Intraut... |
OMIM:618644 |
| Scarf Syndrome |
|
Webbed neck, Diastasis recti, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypo... |
OMIM:312830 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Villous atrophy, Sple... |
OMIM:614700 |
| Menkes Disease |
|
Alopecia, Intrauterine growth retardation, Brittle hair, Short stature, Sparse hair |
OMIM:309400 |
| Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Furrowed tongue, Chronic monilial nail infection, Nail dystrophy, Nail dys... |
OMIM:158310 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Absent nipple, Brittle hair, Absent hair |
OMIM:614940 |
| Crimean-Congo Hemorrhagic Fever |
|
Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Splenomegaly,... |
ORPHA:99827 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Small for gestational age, Dehydration |
ORPHA:2260 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Preauricular skin tag, Annular pancreas, Cryptorchidism,... |
ORPHA:264450 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Sparse body hair, Short stature, Growth delay |
ORPHA:177 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Small nail, Oligohydramnios, Low anterior hairline, Aplasia cutis congenita, Limb hyper... |
OMIM:614219 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Gastroesophageal reflux, Furrowed tongue, High palate, Sparse hair, Cleft palate, Nevus flammeus ... |
OMIM:616449 |
| Eem Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse body hair |
ORPHA:1897 |
| Nablus Mask-Like Facial Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Joint contracture of the hand, Frontal upsweep of hair, Cr... |
OMIM:608156 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar... |
OMIM:604536 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, Decreased muscle mass, Abnormal mesentery morphology, Atrophic scars,... |
ORPHA:2953 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Sparse hair, Bifid uvula, Sparse eyebrow, Gastroesophageal reflux, Absent nipple, Small nail, Ank... |
OMIM:620186 |
| Loeys-Dietz Syndrome |
|
Bifid uvula, Atypical scarring of skin, Camptodactyly of finger, Striae distensae, High palate, T... |
ORPHA:60030 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs inversus, Intestinal malrotation, Intrauterine growth retardation, Abdominal situ... |
OMIM:270100 |
| Craniolenticulosutural Dysplasia |
|
Bifid uvula, Gastroesophageal reflux, Coarse hair, Cryptorchidism, Brittle hair, Short stature, H... |
OMIM:607812 |
| Leprosy |
|
Alopecia, Testicular mass, Skeletal muscle atrophy, Penetrating foot ulcers, Hypopigmented macule... |
ORPHA:548 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Cryptorchidism, Low posterior hairline, Aplasia cutis congenita of scalp, ... |
OMIM:194190 |
| Toriello-Lacassie-Droste Syndrome |
|
Failure to thrive, Aplasia/Hypoplasia of the skin, Aganglionic megacolon, Polyhydramnios, Growth ... |
ORPHA:3339 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Failure to thrive, Small nail, Breast hypoplasia, Nail dysplasia, Sparse hair, Growth... |
OMIM:614813 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thin eyebrow, Low posterior hairline, Facial hypotonia, Sparse hair, Synophrys |
OMIM:619320 |
| Marden-Walker Syndrome |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate, Pyloric stenosis |
ORPHA:2461 |
| Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail |
ORPHA:384 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Skin erosion, Alopecia totalis, Neonatal death, Aplasia cutis congenita, An... |
OMIM:609638 |
| Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Xerostomia, Nevus, Fine hair, Decreased response to growth hormone s... |
ORPHA:1896 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Nail dystrophy, Nail dysplasia, Flexion contracture, Sparse hair |
OMIM:242300 |
| Bartter Syndrome, Type 3 |
|
Hyperaldosteronism, Dehydration |
OMIM:607364 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Frontal balding, Failure to thrive, Decreased testicular size, Hirsutism, Weight loss, Short stat... |
ORPHA:90794 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short nail, Fine hair, Cirrhosis, Broad nail, Short stature, Sparse hair |
OMIM:614099 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperglycemia, Hypothyroidism |
ORPHA:444077 |
| Iniencephaly |
|
Rhizomelia, Congenital diaphragmatic hernia, Polyhydramnios, Anal atresia, Arthrogryposis multipl... |
ORPHA:63259 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Gastroesophageal reflux, Intrauterine growth retardation, Hepatic steatosis, Joint contracture of... |
OMIM:619934 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Sparse lateral eyebrow, Dermal atrophy, Splenomegaly, Nail dystrophy, Low posteri... |
OMIM:604173 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Fine hair, Postnatal growth retardation, Decreased testicular size, Cryptorchidism, High palate, ... |
ORPHA:251028 |
| Scalp-Ear-Nipple Syndrome |
|
Bifid uvula, Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Spars... |
OMIM:181270 |
| Monosomy 22 |
|
Contractures of the large joints, Hepatosplenomegaly, Joint swelling, Aplasia of the thymus, High... |
ORPHA:96123 |
| Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Cholelithiasis, Cholecystitis, Splenomegaly, Myop... |
OMIM:611881 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Breast hypoplasia... |
OMIM:181450 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Thin eyebrow, Cryptorch... |
OMIM:617063 |
| Cockayne Syndrome B |
|
Severe short stature, Atypical scarring of skin, Dry hair, Failure to thrive, Abnormal hair morph... |
OMIM:133540 |
| Costello Syndrome |
|
Webbed neck, Nevus, Failure to thrive, Rhabdomyosarcoma, Fragile nails, Concave nail, Deep-set na... |
OMIM:218040 |
| Alg9-Cdg |
|
Aplasia cutis congenita of scalp, Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Rhiz... |
ORPHA:79328 |
| Restrictive Dermopathy |
|
Webbed neck, Microcolon, Skin erosion, Sparse eyebrow, Short nail, Camptodactyly of finger, Derma... |
ORPHA:1662 |
| Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Mild postnatal growth retardation, Spl... |
ORPHA:2136 |
| Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, Supernumerary nipple, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch... |
OMIM:106260 |
| Dyskeratosis Congenita, X-Linked |
|
Alopecia, Oral leukoplakia, Premature graying of hair, Dermal atrophy, Decreased testicular size,... |
OMIM:305000 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Limb-girdle muscular dystrophy, Postnatal growth retardation, Decreased body weight, Short statur... |
ORPHA:96180 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Arthrogryposis multiplex congenita, Failure to thrive, Palpebral edema, Diastasis... |
OMIM:252500 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Smooth tongue, Dystrophic toenail, Sparse body hair, Fine h... |
OMIM:257980 |
| Smith-Lemli-Opitz Syndrome |
|
Gastroesophageal reflux, Microglossia, Cryptorchidism, Aganglionic megacolon, Bifid tongue, Cleft... |
ORPHA:818 |
| Jaberi-Elahi Syndrome |
|
Sparse eyebrow, Failure to thrive, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:617988 |
| Juvenile Nephropathic Cystinosis |
|
Vomiting, Hypothyroidism, Growth delay, Dehydration |
ORPHA:411634 |
| 1P36 Deletion Syndrome |
|
Gastroesophageal reflux, Annular pancreas, Failure to thrive, Horizontal eyebrow, Camptodactyly o... |
ORPHA:1606 |
| Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Smooth tongue, Failure to thrive, Atrophic scars, Milia, Distal lower limb amyotrophy, ... |
ORPHA:79396 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Breast aplasia, C... |
ORPHA:268261 |
| Yellow Fever |
|
Skin rash, Jaundice, Acute pancreatitis, Pancreatic hyperplasia |
ORPHA:99829 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Limb hypertonia, Hirsutism |
OMIM:618087 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... |
OMIM:225060 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cryptorchidism, Short stature, High palate, Sparse hair, Small for gestational age |
OMIM:300661 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Alpha-Thalassemia |
|
Generalized edema, Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Pleural effusion, Splenomeg... |
ORPHA:846 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Patchy alopecia, Sparse hair |
OMIM:617763 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Alopecia, Moderate postnatal growth retardation, Intrauterine growth retard... |
ORPHA:1005 |
| Degcags Syndrome |
|
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Protruding tongue, Cryptorchidism, Jejunal at... |
OMIM:619488 |
| Fanconi Anemia |
|
Meckel diverticulum, Hypopigmented skin patches, Aplasia/Hypoplasia of the uvula, Duodenal stenos... |
ORPHA:84 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure,... |
OMIM:218330 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Skin ulcer, Abnormal fingernail morphology, Skin fissure, Sparse hair |
ORPHA:659 |
| Marshall Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Short stature, High palate, Sparse hair, Cleft palate |
ORPHA:560 |
| Bartter Syndrome, Type 2, Antenatal |
|
Vomiting, Diarrhea, Hyperaldosteronism, Constipation, Polyhydramnios, Short stature, Dehydration |
OMIM:241200 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Microglossia, Intestinal malrotation, Cryptorchidism, Agang... |
OMIM:270400 |
| Neurofibroma |
|
Intestinal bleeding, Enlargement of parotid gland, Periarticular subcutaneous nodules, Abnormal b... |
ORPHA:252183 |
| Cerebellar-Facial-Dental Syndrome |
|
Severe short stature, Infancy onset short-trunk short stature, Sparse eyebrow, Foot joint contrac... |
ORPHA:444072 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Nevus flammeus, Diastasis recti, Cryptorchidism, Hepatoblastoma, Hepatome... |
OMIM:130650 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Skin ulcer, Postnatal growth retardation, Splenomegaly, Prolonged neonatal jaundi... |
ORPHA:288 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, ... |
ORPHA:79102 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas |
OMIM:618162 |
| Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Atypical scarring of skin, Camptodactyly of finger, Milia, E... |
ORPHA:2908 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Fine hair, Abnormal fingernail morphology, Short stature, Sparse hair |
ORPHA:1806 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
| Dermatoosteolysis, Kirghizian Type |
|
Dystrophic toenail, Skin ulcer, Aplasia/Hypoplasia of the skin, Dystrophic fingernails, Abnormali... |
ORPHA:1657 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Sparse hair, Webbed neck, Highly arched eyebrow, Joint contracture of the hand, Sparse lateral ey... |
OMIM:280000 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchidism, Trunc... |
OMIM:616541 |
| Weaver Syndrome |
|
Joint contracture of the hand, Fine hair, Melanocytic nevus, Diastasis recti, Cryptorchidism, Thi... |
OMIM:277590 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Failure to thrive, Nail dystrophy, Myositis, Nailfold capillary tortuosi... |
OMIM:615934 |
| Rothmund-Thomson Syndrome |
|
Facial edema, Abnormality of the nail, Sparse eyebrow, Small nail, Alopecia totalis, Sparse eyela... |
ORPHA:2909 |
| Bathing Suit Ichthyosis |
|
Alopecia, Sparse hair, Nail dystrophy, Multiple joint contractures |
ORPHA:100976 |
| Stiff Skin Syndrome |
|
Short stature, Aplasia/Hypoplasia of the skin, Subcutaneous nodule |
ORPHA:2833 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Atypical scarring of skin, Intrauterine growth retardation, Woolly h... |
ORPHA:565 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands, Lymphedema |
OMIM:300291 |
| Kindler Syndrome |
|
Diffuse skin atrophy, Anal stenosis, Oral leukoplakia, Dermal atrophy, Ridged nail, Spotty hypopi... |
OMIM:173650 |
| Dermatomyositis |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Abnormal eosinophil morphology... |
ORPHA:221 |
| Myhre Syndrome |
|
Fine hair, Skeletal muscle hypertrophy, Obesity, Intrauterine growth retardation, Thick eyebrow, ... |
OMIM:139210 |
| Bardet-Biedl Syndrome |
|
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Impaired fasting g... |
ORPHA:110 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperglycemia, Microvesicular hepatic steatosis, Increased hepatocellular lipid dro... |
OMIM:220111 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short stature, Sparse hair, Sparse lateral eyebrow, Fine hair |
OMIM:190351 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Synophrys, Sparse eyebrow, Sparse hair, Curly hair |
OMIM:620075 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Duodenal ulcer |
ORPHA:722 |
| Focal Dermal Hypoplasia |
|
Focal dermal aplasia/hypoplasia, Anteriorly placed anus, Supernumerary nipple, Intestinal malrota... |
OMIM:305600 |
| Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
| Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Alopecia universalis, Anoperineal fistula, Failure to thrive, Abnormal tongue morphology, Nail dy... |
ORPHA:158668 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Flexion contractu... |
OMIM:614594 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Hypopigmented skin patches, Failure to thrive, Abnormal rectum morphology, ... |
ORPHA:2556 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Craniolenticulosutural Dysplasia |
|
Coarse hair, Brittle hair, Short stature, High palate, Sparse hair |
ORPHA:50814 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
High palate, Bilateral cryptorchidism, Median cleft palate, Pyloric stenosis |
OMIM:617402 |
| Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Aganglionic megacolon, Limb hypertonia, Sparse hair, Synophrys |
OMIM:609460 |
| Charge Syndrome |
|
Webbed neck, Anal stenosis, Parathyroid hypoplasia, Decreased response to growth hormone stimulat... |
OMIM:214800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Hepatosplenomegaly, Shoulder muscle hypoplasia, Edema of the dorsum of hands... |
OMIM:274000 |
| Short Syndrome |
|
Severe short stature, Alopecia, Weight loss, Sparse hair |
ORPHA:3163 |
| Roberts Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Knee flexion contracture, Wrist flexion contracture... |
ORPHA:3103 |
| Teebi-Shaltout Syndrome |
|
High, narrow palate, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Slow-growing ha... |
OMIM:272950 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Atrophic scars, Diastasis recti, Cryptorchidism, Hiatus hernia, Distal ar... |
OMIM:601776 |
| Revesz Syndrome |
|
Ridged fingernail, Oral leukoplakia, Fine hair, Intrauterine growth retardation, Nail dystrophy, ... |
OMIM:268130 |
| Bartter Syndrome Type 4 |
|
Failure to thrive, Severe failure to thrive, Polyhydramnios, Small for gestational age, Dehydration |
ORPHA:89938 |
| Townes-Brocks Syndrome 1 |
|
Preauricular skin tag, Anal stenosis, Gastroesophageal reflux, Small for gestational age, Preauri... |
OMIM:107480 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse hair, Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Postnatal g... |
OMIM:619127 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Gastroesophageal reflux, Disproportionate short stature, Failure to thrive, Fine ... |
OMIM:210710 |
| Cornelia De Lange Syndrome |
|
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptorchidism, Hypoplastic nipples, H... |
ORPHA:199 |
| Rodrigues Blindness |
|
Short stature, Sparse hair, Fine hair |
OMIM:268320 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Premature graying of hair, Absent eyelashes, Abnormal intrahepatic bile duc... |
ORPHA:363618 |
| Cockayne Syndrome A |
|
Atypical scarring of skin, Dry hair, Failure to thrive, Intrauterine growth retardation, Splenome... |
OMIM:216400 |
| Knobloch Syndrome 1 |
|
Pyloric stenosis |
OMIM:267750 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Ridged nail, Nail d... |
ORPHA:1010 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Severe short stature, Sparse hair, Alopecia, Failure to thrive, Hypoplastic fingernail, Abnormal ... |
ORPHA:2273 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Gastroesophageal reflux, Gastrointestinal dysmotility, Thin nail, Short stature, Sparse hair, Gro... |
OMIM:617799 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Short stature, Sparse hair,... |
OMIM:250410 |
| Keutel Syndrome |
|
Short stature, Dermal atrophy, Alopecia |
ORPHA:85202 |
| Abetalipoproteinemia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
ORPHA:14 |
| Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Aplasia cutis congenita |
OMIM:614814 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Flexion contracture of digit, Woolly hair |
OMIM:619208 |
| Holoprosencephaly 13, X-Linked |
|
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Duodenal atresia, Clef... |
OMIM:301043 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Failure to thrive, Fine hair, Sparse eyelashes, Short stature, Sparse hair |
OMIM:257850 |
| Oculodentodigital Dysplasia |
|
Fine hair, Camptodactyly of finger, Abnormal fingernail morphology, Curly hair, Slow-growing hair... |
ORPHA:2710 |
| Mosaic Trisomy 16 |
|
Meckel diverticulum, Anteriorly placed anus, Intrauterine growth retardation, Abnormality of the ... |
ORPHA:1708 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Hepatitis, Hepatosplenomegaly, Villous atrophy, Abnormal intestine morphology, Enterocolitis, Del... |
ORPHA:391487 |
| Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... |
ORPHA:64 |
| Fraser Syndrome 1 |
|
Small nail, Abnormal small intestine morphology, Extension of hair growth on temples to lateral e... |
OMIM:219000 |
| Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
| Neurocardiofaciodigital Syndrome |
|
Sparse eyebrow, Failure to thrive, Short stature, High palate, Sparse hair, Small for gestational... |
OMIM:619869 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes |
OMIM:618275 |
| Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Supernumerary nipple, Hypoglycemia, Cryptorchidism, Pancreatic islet-cell hyperplasi... |
ORPHA:373 |
| Plague |
|
Localized skin lesion, Inflammation of the large intestine, Skin ulcer, Splenomegaly, Ileitis, En... |
ORPHA:707 |
| Mowat-Wilson Syndrome |
|
Abnormal enteric ganglion morphology, Supernumerary nipple, Cryptorchidism, Submucous cleft hard ... |
OMIM:235730 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Aplasia of the right hemidiaphragm... |
OMIM:619841 |
| Oculodentodigital Dysplasia |
|
Dry hair, Fine hair, Joint contracture of the 5th finger, Slow-growing hair, High palate, Sparse ... |
OMIM:164200 |
| Yunis-Varon Syndrome |
|
High, narrow palate, Glossoptosis, Cryptorchidism, Pyloric stenosis |
ORPHA:3472 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastroesophageal reflux, Growth delay, Foot joint contracture, Anal fissure, Ankyloglossia, Atrop... |
ORPHA:79408 |
| Viss Syndrome |
|
Cleft soft palate, Contracture of the proximal interphalangeal joint of the 2nd toe, Celiac disea... |
OMIM:619472 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Sparse lateral eyebrow, Decreased testicular size, Anal atresia, C... |
OMIM:309500 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss, Growth delay, Dehydration |
ORPHA:3337 |
| Xfe Progeroid Syndrome |
|
Severe short stature, Elevated circulating hepatic transaminase concentration, Failure to thrive,... |
OMIM:610965 |
| Ifap Syndrome 2 |
|
Atrichia, Sparse hair, Nail dystrophy |
OMIM:619016 |
| Barber-Say Syndrome |
|
Sparse eyebrow, Absent nipple, Velopharyngeal insufficiency, Hypertrichosis, Dermal atrophy, Cryp... |
OMIM:209885 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic ... |
OMIM:312870 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Failure to thrive, Sparse body... |
ORPHA:90796 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Coarse hair, Moderate postnatal growth retardation, Knee flexion contracture, Hip contracture, Sp... |
OMIM:118650 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hypertrichosis, Curly hair, Hypoplastic nipples, Delayed puberty, High palate, Short stature, Cys... |
ORPHA:480880 |
| Oculoectodermal Syndrome |
|
Preauricular skin tag, Supernumerary nipple, Lymphedema, Epidermal nevus, Pineal cyst, Aplasia cu... |
OMIM:600268 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anteriorly placed anus, Colonic atresia, Congenital diaphragmatic hernia, Short stature, Anal atr... |
OMIM:309801 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Bifid uvula, Gastroesophageal reflux, Unilateral facial palsy, Torticollis, Cyst of the ductus ch... |
OMIM:619480 |
| Greenberg Dysplasia |
|
Hepatomegaly, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification |
OMIM:215140 |
| Pemphigus Erythematosus |
|
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... |
ORPHA:79480 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Gastroesophageal reflux, Nevus, Bilateral cryptorchidism, Chronic gastritis, Thick eyebrow, Mild ... |
OMIM:150230 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:224900 |
| Wrinkly Skin Syndrome |
|
Failure to thrive, Decreased muscle mass, Postnatal growth retardation, Intrauterine growth retar... |
ORPHA:2834 |
| Pallister-Killian Syndrome |
|
Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Sparse eyelashes, Anal atr... |
OMIM:601803 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Bifid uvula, Severe short stature, Hypoplastic fingernail, Hyperconvex finge... |
ORPHA:2658 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Asymmetric, linear skin defects, Failure to thrive |
OMIM:300952 |
| Lyme Disease |
|
Skin nodule, Dermal atrophy, Joint swelling |
ORPHA:91546 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ankle flexion contracture, Stillbirth, Elbow flexion contracture, Postnatal gro... |
OMIM:268300 |
| Wrinkly Skin Syndrome |
|
Hypoplasia of the musculature, Short nail, Failure to thrive, Intrauterine growth retardation, Cr... |
OMIM:278250 |
| Genitopatellar Syndrome |
|
Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Cryptorchidism, Hip contractur... |
OMIM:606170 |
| Dysosteosclerosis |
|
Short stature, Aplasia/Hypoplasia of the skin |
ORPHA:1782 |
| Naxos Disease |
|
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... |
OMIM:601214 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive |
OMIM:140350 |
| Scalp-Ear-Nipple Syndrome |
|
Breast aplasia, Palpebral edema, Abnormal fingernail morphology, Sparse hair |
ORPHA:2036 |
| Meckel Syndrome |
|
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... |
ORPHA:564 |
| Chime Syndrome |
|
Fine hair, Sparse hair, Skin ulcer, Cleft palate |
ORPHA:3474 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Severe short stature, Bifid uvula, Alopecia, Thin eyebrow, Intrauterine growth retardation, Crypt... |
ORPHA:2636 |
| Cutis Marmorata Telangiectatica Congenita |
|
Skin erosion, Ascites, Intrauterine growth retardation, Aplasia/Hypoplasia of the skin, Blue nevu... |
ORPHA:1556 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Cryptorchidism, Aganglionic megacolon, Anal atresia, High palate, Rectal pro... |
OMIM:309800 |
| Dysosteosclerosis |
|
Dermal atrophy, High palate, Disproportionate short stature, Facial paralysis |
OMIM:224300 |
| Mowat-Wilson Syndrome |
|
Bifid uvula, Submucous cleft of soft and hard palate, Cryptorchidism, Aganglionic megacolon, Gast... |
ORPHA:2152 |
| Williams Syndrome |
|
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, Failure to thrive in ... |
ORPHA:904 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid uvula, Submucous cleft of soft and hard palate, Cryptorchidism, Aganglionic megacolon, Clef... |
ORPHA:261537 |
| Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Tongue telangiectasia, Intestinal p... |
ORPHA:774 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Dermal atrophy, Hypermelanotic macule, Bilateral cryptorchidism |
OMIM:278800 |
| Menke-Hennekam Syndrome 1 |
|
Gastroesophageal reflux, Long eyelashes, Thick eyebrow, Cryptorchidism, High palate, Sparse hair,... |
OMIM:618332 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid uvula, Submucous cleft of soft and hard palate, Cryptorchidism, Aganglionic megacolon, Clef... |
ORPHA:261552 |
| Yunis-Varon Syndrome |
|
Absent nipple, Cryptorchidism, Hypoplastic nipples, High palate, Pyloric stenosis |
OMIM:216340 |
| Baller-Gerold Syndrome |
|
Severe short stature, Bifid uvula, Anomalous splenoportal venous system, Anteriorly placed anus, ... |
OMIM:218600 |
| Primrose Syndrome |
|
Distal amyotrophy, Skeletal muscle atrophy, Bilateral cryptorchidism, Sparse body hair, Cryptorch... |
OMIM:259050 |
| Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Alopecia, Sparse hair, Fine hair |
OMIM:241080 |
| Down Syndrome |
|
Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Short stature, Macroglossia, Anal at... |
OMIM:190685 |
| Autosomal Dominant Cutis Laxa |
|
Postnatal growth retardation, Intrauterine growth retardation, Small bowel diverticula |
ORPHA:90348 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Hypermelanotic macule, Erythematous papule, Verrucous epidermal nevus |
OMIM:278700 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic toenail, Hypermelanotic macule, Ankyloglossia, Dermal atrophy, Delayed menarche, Alope... |
ORPHA:740 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Dermal atrophy, Cachexia |
ORPHA:220295 |
| Xeroderma Pigmentosum, Variant Type |
|
Dermal atrophy, Growth delay |
OMIM:278750 |
