| 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 |
| Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
| Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
| Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Dehydration, Protracted diarrhea, Growth delay, Abnormal intestine morphology |
OMIM:251850 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat... |
ORPHA:309108 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Short stature, Steatorrhea |
OMIM:618752 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... |
ORPHA:2470 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Growth ... |
ORPHA:100025 |
| Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
| Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting, Dehydration |
OMIM:610370 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, High palate, Intrauterine growth retardation, Panc... |
ORPHA:556955 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... |
ORPHA:401911 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski... |
ORPHA:2985 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Enteric Anendocrinosis |
|
Cholestatic liver disease, Dehydration, Portal hypertension, Malabsorption |
ORPHA:83620 |
| Gastroschisis |
|
Intestinal atresia |
ORPHA:2368 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... |
OMIM:618500 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... |
ORPHA:79230 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... |
OMIM:602347 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Small for gestational age, Intestinal malrotation, Congenital diaphragmatic he... |
ORPHA:2255 |
| Pancreatic insufficiency, combined exocrine |
|
Anasarca, Anal atresia, Exocrine pancreatic insufficiency |
OMIM:260450 |
| Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hepatic steatosis, Pancreatitis, Hypoglycemia |
OMIM:619386 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... |
OMIM:615237 |
| Reticular Dysgenesis |
|
Malabsorption, Skin ulcer, Weight loss, Dehydration, Failure to thrive |
ORPHA:33355 |
| Tumor Predisposition Syndrome 4 |
|
Stomach cancer |
OMIM:609265 |
| 17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Short stature, Cryptorchidism, Pancreatic aplasia, Oligohydramnios |
ORPHA:261265 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:3032 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Dehydration |
OMIM:614265 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... |
OMIM:610199 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Mild postnatal growth retardation, Facial palsy, Foot joint cont... |
ORPHA:456312 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Dehydration, Dysphagia, Intrauterine... |
OMIM:618958 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Esophageal stricture, Erythematous plaque, Thin skin,... |
ORPHA:158673 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Woolly hair, Chronic hepa... |
OMIM:614602 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
| Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
| Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... |
ORPHA:69663 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Polyhydramnios, Duodenal atresia |
ORPHA:1203 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decr... |
ORPHA:453533 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... |
OMIM:607823 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Preauricular pit, Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the ... |
OMIM:208540 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Skin dimple, Thin skin, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/... |
ORPHA:261304 |
| Friedreich Ataxia |
|
Diabetes mellitus, Decreased pyruvate carboxylase activity |
OMIM:229300 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Polyhydramnios, Flexion contracture, Congenital pyloric atresia, Neonatal death, Aplasia cutis co... |
OMIM:612138 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Malabsorp... |
ORPHA:2930 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:612714 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Celiac disease, Hepatosplenomegaly, Abnormal intestine morphology, Delayed puberty... |
OMIM:615952 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis |
OMIM:226700 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
| Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Parathyroid carcino... |
OMIM:145001 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis |
OMIM:614262 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Short stature, Jaundice, Dehydration, Central hypothyroidism, Growth delay, Abnorma... |
ORPHA:1667 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Abnormality of skeletal muscle fiber ... |
ORPHA:2348 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
| Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... |
ORPHA:1666 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Gastroesophageal reflux, Thin skin |
ORPHA:98892 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Aplasia/Hypoplasia of the skin, Splenomegaly, Abnorm... |
ORPHA:79083 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate |
ORPHA:314575 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Small for gestational age, Decreased response to growth hormone s... |
OMIM:275400 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Aplasia cutis congenita, Cryptorchidism, Fine hair, Growth delay,... |
ORPHA:217346 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
| Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... |
OMIM:246200 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Johanson-Blizzard Syndrome |
|
Short stature, Edema, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Intraut... |
ORPHA:2315 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Cryp... |
ORPHA:75496 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Exocrine pancreatic insuffici... |
ORPHA:452 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Thin skin, Trichodysplasia, Toenail d... |
ORPHA:1660 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| X-Linked Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Thin skin, Short stature |
ORPHA:75497 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Dehydration |
ORPHA:28 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:79159 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Diabetic ketoacidosis, Pancreatitis |
ORPHA:70578 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Intestinal malrotation, Polyhydramnios, Gastrointestinal... |
ORPHA:436252 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... |
OMIM:137920 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Chronic Hiccup |
|
Abnormality of the diaphragm, Dehydration, Weight loss |
ORPHA:396 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... |
ORPHA:99885 |
| Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
| Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Hypopigmented skin patches, Skin ulcer, Abno... |
ORPHA:525 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Familial Melanoma |
|
Neoplasm of the pancreas, Abnormal hair morphology, Neoplasm of the stomach, Nevus |
ORPHA:618 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Vomiting, Dehydration |
OMIM:602199 |
| Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
| Netherton Syndrome |
|
Sparse scalp hair, Short stature, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal hair ... |
ORPHA:634 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis |
OMIM:613490 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome... |
ORPHA:79301 |
| Autosomal Agammaglobulinemia |
|
Malabsorption, Hepatitis, Dehydration, High palate, Failure to thrive |
ORPHA:33110 |
| Cystinosis |
|
Short stature, Portal hypertension, Malabsorption, Dehydration, Myopathy, Delayed puberty, Failur... |
ORPHA:213 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
| Rapp-Hodgkin Syndrome |
|
Short stature, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Velopha... |
OMIM:129400 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Malabsorption |
OMIM:606824 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab... |
ORPHA:93111 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis |
OMIM:617219 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Short stature, Skin ulcer, Fine hair, Thin skin |
ORPHA:2500 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
| Dermoodontodysplasia |
|
Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Secretory diarrhea, Vomiting, Polyhydramnios, Dehydration |
OMIM:616069 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Sparse hair, Short stature, Intestinal malrotation |
ORPHA:2301 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
ORPHA:79312 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Cholestasis, ... |
OMIM:615895 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Protein-losing enteropathy... |
ORPHA:79319 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Growth delay, Sparse hair |
OMIM:246500 |
| Rauch-Steindl Syndrome |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Chronic constipation, Intrauterine gro... |
OMIM:619695 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cryptorchidism, Pyloric stenosis, Flexion contracture, Elbow flexion contracture, Fine hair, Thin... |
OMIM:614438 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short stature, Camptodactyly of finger, Thenar muscle atrophy, Moderately short stature, Cigarett... |
OMIM:612350 |
| Fg Syndrome 3 |
|
Pyloric stenosis, Cryptorchidism |
OMIM:300406 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly |
OMIM:251110 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Tubulointerstitial nephritis, Hypoglycemia, Pancreatitis |
OMIM:251000 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin |
ORPHA:1810 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thenar muscle atrophy, Moderately short stature, Flexion contracture, Thin skin, Failure to thrive |
ORPHA:157965 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Short stature, Intestinal malrotation, Congenital diaphragmatic he... |
OMIM:617602 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Short stature, Polycystic ovaries, Ectopic anus |
ORPHA:1643 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Short stature, Diarrhea, High palate, Steatorrhea, Hyperechogenic pancreas, Exocrin... |
OMIM:617941 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit... |
ORPHA:79499 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Edema, Cryptorchidism, Cholestasis, Protein-losing enteropathy, ... |
OMIM:608104 |
| Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Volvulus Of Midgut |
|
Volvulus, Neonatal intestinal obstruction, Intestinal malrotation |
OMIM:193250 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund... |
OMIM:211600 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Xerostomia, Aplasia/Hypoplasia of the eyebrow, Breast ... |
ORPHA:238468 |
| Xq27.3Q28 Duplication Syndrome |
|
Decreased testicular size, Short stature, Cryptorchidism, Truncal obesity, Intrauterine growth re... |
ORPHA:261483 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Edema, Hepatic fibrosis, Protein-losing enterop... |
OMIM:602579 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation... |
OMIM:616263 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Failure to thrive, Pancreatic fibro... |
OMIM:557000 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, ... |
OMIM:256500 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Short stature, Sparse body hair, Obesity |
ORPHA:85274 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Propionic Acidemia |
|
Hepatomegaly, Eczema, Hypoglycemia, Pancreatitis |
OMIM:606054 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarch... |
ORPHA:412057 |
| Prolidase Deficiency |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Splenomegaly, Low a... |
ORPHA:742 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Malabs... |
ORPHA:97282 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Cryptorchidism, Flexion contracture, Elbow flexion ... |
OMIM:214150 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contractur... |
OMIM:606242 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Short stature, Cryptorchidism, Distal amyotrophy, Thin skin, Sparse hair, Intrauterine growth ret... |
OMIM:219150 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... |
ORPHA:79133 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro... |
OMIM:617294 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia |
OMIM:227260 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... |
ORPHA:978 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails |
OMIM:617364 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Cirrhosis... |
OMIM:269200 |
| Feingold Syndrome |
|
Short stature, Abnormality of the spleen, Esophageal atresia, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Disproportionate short-limb short stature, Thin skin |
OMIM:259410 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:3363 |
| Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Biliary cirrhosis, Dehydration, H... |
OMIM:219700 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Delayed puberty, Gout, Inflammatio... |
OMIM:232220 |
| Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly |
OMIM:251100 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Cryptorchidism, Congenital pyloric atresia, Low pos... |
ORPHA:2617 |
| Alg6-Cdg |
|
Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Failure to thrive |
ORPHA:79320 |
| Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
| Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Pyloric stenosis |
OMIM:616924 |
| Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... |
ORPHA:699 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt... |
ORPHA:1807 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Diarrhea, Growth delay, Colitis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Juvenile Hyaline Fibromatosis |
|
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Aplasia/Hypoplasia of the ski... |
ORPHA:2028 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
| Deeah Syndrome |
|
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Polyhydramnio... |
OMIM:619004 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Brea... |
ORPHA:90153 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Vomiting, Dehydration |
OMIM:602722 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
| Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Intrauterine growt... |
ORPHA:1201 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
| Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Dehydration |
ORPHA:289504 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Decreased circulating aldosterone level, Vomiting, Dehydration |
OMIM:203400 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
| Mandibuloacral Dysplasia |
|
Alopecia, Postnatal growth retardation, Abnormal tongue morphology, Contractures of the large joi... |
ORPHA:2457 |
| Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Dehydration, Vomiting, Elevated serum 11-deoxycortisol, Decreased c... |
ORPHA:556030 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Dehydration, Weight loss, Cholelithiasis |
ORPHA:171876 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Synophrys, Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Striae distensae, Edema, Pituitary adenoma, Obesity, Abdominal obesity, ... |
OMIM:219090 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Edema, Malabsorption, Steatorrhea, Weigh... |
ORPHA:2070 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, P... |
OMIM:301068 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia |
OMIM:175700 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Intestinal ble... |
OMIM:612199 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Postnatal g... |
ORPHA:79303 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Splenomega... |
ORPHA:381 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Truncal obesity, Macronodular adrenal hyperplasia, ... |
OMIM:219080 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Polyhydramnios, Supernumerary nipple, Cryptorchidism, Cleft palate, Fine hair, Aplastic/hypoplast... |
ORPHA:1812 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Proximal upper limb muscle hypertroph... |
ORPHA:280365 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Shwachman-Diamond Syndrome |
|
Hepatomegaly, Diabetes mellitus, Decreased response to growth hormone stimulation test, Hypopitui... |
ORPHA:811 |
| Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... |
ORPHA:444490 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Gout, Fasting hypoglycemia, Delayed puberty... |
OMIM:232200 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... |
ORPHA:263455 |
| Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples... |
OMIM:103285 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Hydrops fetalis, Polyhydramnios, Intestinal atresia |
ORPHA:3405 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Decreased fumarate hydratase activity |
OMIM:606812 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Postnatal... |
ORPHA:83617 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Dehydration, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting |
OMIM:264350 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Thin skin |
OMIM:618905 |
| Bone Marrow Failure Syndrome 3 |
|
Short stature, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Intrauterine growth... |
OMIM:617052 |
| Intussusception |
|
Intussusception |
OMIM:147710 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... |
ORPHA:465508 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Synophrys, High palate, Sparse hair, Aplasia cutis c... |
OMIM:616854 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Curly hair, Short stature, Slow-growing hair, Polyhydramnios, Highly arched eye... |
OMIM:617506 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper... |
ORPHA:275761 |
| Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Growth delay, Polysplenia, Intrauterine gr... |
OMIM:617784 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Dehydration |
ORPHA:2290 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Chronic diarrhea, Macroglossia, Gastroesophageal refl... |
OMIM:618268 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Hepatomegaly, Hepatic failure |
ORPHA:255210 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular pit, Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophage... |
OMIM:619227 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Oligoh... |
OMIM:267010 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Rectovaginal fistula |
OMIM:612567 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... |
OMIM:619418 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Intestinal perforation, Atrophic scars, Thin skin, Hiatus hernia |
OMIM:130080 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... |
ORPHA:2126 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Postnatal growth retar... |
OMIM:232700 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Preauricular pit, Sacral dimple, Cryptorchidism, High, narrow palate, Sparse hair |
OMIM:273390 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis co... |
ORPHA:79402 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Macule, Alopecia, Aplasia/Hypoplasia of the skin, Diastasis recti, Congeni... |
ORPHA:2092 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Growth delay, Decreased circulating aldosterone level, Dehydration |
OMIM:610600 |
| Trisomy 18P |
|
Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis |
ORPHA:1715 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, High palate, Thin skin, Short stature |
OMIM:201170 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glycosuria, Abnormal hepatic glycoge... |
ORPHA:2088 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Testicular seminoma, Short stature, Abnormal stomach morphology |
ORPHA:281090 |
| Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Cryptorchidism |
OMIM:218350 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Camptodactyly of finger, Hypopigmented skin patches, Fingernail d... |
ORPHA:2251 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Intestinal malrotation, Congenital diaphragmatic hernia, B... |
OMIM:600001 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Generalized hirsutism, Thin skin, Protruding tongue |
ORPHA:561 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Sparse scalp hair, Failure to thrive, Short stature, Cholangitis, Rhizomelia, Edema... |
OMIM:266920 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Vomiting, Dehydration |
OMIM:620126 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Failure to thrive, Aplasia/Hypoplasia of the skin, Portal ... |
ORPHA:974 |
| Familial Cervical Artery Dissection |
|
Striae distensae, Facial palsy, Thin skin |
ORPHA:36382 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Cryptorchidism, Cleft palate, High palate, Bifid uvula |
ORPHA:96184 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Osteoarthritis, Glucose intolerance,... |
OMIM:606069 |
| Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux |
OMIM:256300 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Gastroesophageal reflux, Dehydration |
OMIM:251120 |
| Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
| Vascular Hyalinosis |
|
Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Cryptorchidism, Primary adrenal insufficiency, Dehydration,... |
OMIM:300200 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature, Duodenal atresia |
ORPHA:3004 |
| Central Diabetes Insipidus |
|
Diarrhea, Dehydration |
ORPHA:178029 |
| Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Thin skin |
ORPHA:230839 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Familial Cold Urticaria |
|
Dehydration, Hyperhidrosis |
ORPHA:47045 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Dehydration, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting |
OMIM:177735 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
| Fetal Encasement Syndrome |
|
Thin skin, Congenital diaphragmatic hernia |
OMIM:613630 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... |
OMIM:175500 |
| Shigellosis |
|
Failure to thrive in infancy, Intestinal perforation, Peritonitis, Rhabdomyolysis, Cholestasis, U... |
ORPHA:810 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Polyhydramnios, Hepatic fibrosis, Sparse hair, Intrauterine growth... |
OMIM:222470 |
| Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesophageal fistula, ... |
ORPHA:115 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... |
ORPHA:438274 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Failure to thrive, Short stature, Intestinal malrotation, Portal h... |
OMIM:613658 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante... |
OMIM:119580 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypopigmentation of hair, Failure to thri... |
ORPHA:100 |
| Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Intestinal malrotation, Sparse eyebrow, High palate, Thin skin, Sparse hair, Preau... |
OMIM:244450 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Small for gesta... |
OMIM:614114 |
| Immunodeficiency, Common Variable, 10 |
|
Pyloric stenosis, Frequent Giardia lamblia infestation, Decreased response to growth hormone stim... |
OMIM:615577 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis |
OMIM:616355 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, Hepatic fibrosis, Ci... |
OMIM:300972 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Esophageal atresia, Congenital pyloric... |
OMIM:226730 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Dyskeratosis Congenita |
|
Anorectal anomaly, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Macule, Hepa... |
ORPHA:1775 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Severe short stature, Hiatus hernia, Gastroesophageal reflux, Thin skin, Esophagitis |
ORPHA:1901 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Filippi Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Decreased body weight, Sparse hair, Intrauterine gr... |
OMIM:272440 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Protein-losing enteropathy, Elevated hepatic ir... |
OMIM:619991 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Failure to thrive, Dehydration |
OMIM:560000 |
| Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Short stature, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:260400 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morphology, Sparse ... |
ORPHA:1818 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Severe short stature, Thin skin |
ORPHA:1899 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Growth delay, Myopathy, E... |
ORPHA:71 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Short stature, Absent facial hair, High, narrow palate, Obesity, Low posterio... |
ORPHA:2183 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
| Glass Syndrome |
|
Facial hypotonia, Short stature, Cleft palate, High palate, Long eyelashes, Nail dysplasia, Campt... |
OMIM:612313 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity |
OMIM:277400 |
| De Barsy Syndrome |
|
Decreased muscle mass, Short stature, Postnatal growth retardation, Cryptorchidism, High palate, ... |
ORPHA:2962 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S... |
ORPHA:2872 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Synophrys, Widow's peak, Upper eyelid edema, High palate, Thin skin, Thin eyeb... |
OMIM:617804 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/Hypoplastia ... |
OMIM:305100 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Myopathy, Centronuclear, X-Linked |
|
Pyloric stenosis, High palate, Cryptorchidism |
OMIM:310400 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Dehydration, Pancreatitis... |
ORPHA:90038 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-... |
OMIM:618625 |
| Isovaleric Acidemia |
|
Vomiting, Dehydration |
OMIM:243500 |
| Hypercalcemia, Infantile, 1 |
|
Vomiting, Dehydration |
OMIM:143880 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Short stature, Small for gestational age, Splenomegaly, Cryptorchidism, Elbow flexi... |
OMIM:618440 |
| Friedreich Ataxia 2 |
|
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:601992 |
| Noonan Syndrome 6 |
|
Curly hair, Short stature, Polyhydramnios, Edema, Long eyebrows, Cryptorchidism, Low posterior ha... |
OMIM:613224 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Brittle hair, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Intra... |
OMIM:616395 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... |
OMIM:269880 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal stomach morphology, Dysphagia, Abnormality of the diaphr... |
ORPHA:2357 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Chylomicron Retention Disease |
|
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... |
OMIM:246700 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Cleft pa... |
OMIM:151050 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
| Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Cleft palate |
OMIM:611561 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
| Necrotizing Enterocolitis |
|
Peritonitis, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Pedal edema, Growth delay, Inflammation of the large intestine, Nail dystrophy, Sp... |
ORPHA:98813 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiect... |
ORPHA:1655 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
| Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Small for gestational age, Disproportionate short-limb short stature, ... |
OMIM:166210 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Pyloric stenosis, Dysphagia |
OMIM:619461 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Short stature, Cachexia |
ORPHA:2574 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
| Chronic Granulomatous Disease |
|
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption |
ORPHA:379 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidi... |
OMIM:235255 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Polysplenia, Duodenal atresia |
OMIM:619608 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Bile duct proliferation, Cleft palate |
OMIM:611134 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Jaundice, Ovarian neoplasm, Pancreatitis |
ORPHA:370348 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Short stature, Camptodactyly of finger, Xerostomia, Hy... |
ORPHA:2907 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis |
ORPHA:565612 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft palate, Nail dystrophy, Trichodys... |
ORPHA:2890 |
| Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Skin ulcer, Gastroesophag... |
ORPHA:779 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Trigonocephaly 1 |
|
Preauricular skin tag, High, narrow palate, Synophrys, Meckel diverticulum |
OMIM:190440 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue, Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Pili torti, Trichorrh... |
OMIM:301845 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Portal hypertension, Cryptorchidism, Macronodular cirrhosis, Severe postnatal g... |
OMIM:620005 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Dehydration |
OMIM:620125 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Short stature, Atrophic scars, High palate, Thin skin, Left ventricular hypertrophy, Tendon ruptu... |
ORPHA:230851 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight |
OMIM:618724 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Short stature, Decreased response to growth hormone stimulation test, Polyhydramni... |
OMIM:603467 |
| Meier-Gorlin Syndrome 1 |
|
Failure to thrive, Small for gestational age, Hyperconvex nail, Cryptorchidism, Flexion contractu... |
OMIM:224690 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... |
OMIM:129900 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Hi... |
ORPHA:3051 |
| Autosomal Dominant Centronuclear Myopathy |
|
Pyloric stenosis, Cryptorchidism |
ORPHA:169189 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... |
OMIM:608615 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin resista... |
ORPHA:769 |
| Lamellar Ichthyosis |
|
Short stature, Dehydration, Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Malabsorption, Cirrhosis, Exocrine pancreatic insufficiency |
OMIM:616539 |
| Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Short stature, Elbow flexion contracture, Premature graying of hair, Hep... |
OMIM:616200 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Edema, Pericardial effusio... |
ORPHA:90362 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Large f... |
OMIM:229850 |
| Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed menarche, Hepatic steatosis, Pa... |
ORPHA:247585 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Thin skin, Delayed... |
ORPHA:90154 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration, Zollinger... |
ORPHA:652 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia |
ORPHA:440713 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Paronychia, Failure to thrive, Onychogryposis |
OMIM:614328 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft palate, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis... |
OMIM:612284 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Villous atrophy, Malabsorption, Weight loss, Protein-losing entero... |
ORPHA:398063 |
| Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, High, narrow palate, Low anterio... |
ORPHA:1787 |
| Tetrasomy 12P |
|
Short stature, Cachexia, Abnormal soft palate morphology, Sparse eyebrow, Sparse hair, Anal atresia |
ORPHA:884 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Polyhydramnios, Fetal ascites... |
OMIM:261515 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Growth delay, Frontal upswe... |
OMIM:617798 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Short stature, Oral-pharyngeal dysphagia, Splenomegaly, Dysphagia, Hypohidrosis, Gr... |
OMIM:219800 |
| Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Short stature, Hyperconvex thumb nails, Absent lower eyelashes, Growth d... |
OMIM:620370 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis |
ORPHA:26791 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... |
ORPHA:171 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Alope... |
ORPHA:79474 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... |
ORPHA:113 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hypoplastic toenails, Splenomegaly, Esophageal varix, Hepatic fibrosis, Apla... |
OMIM:616589 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... |
OMIM:209920 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Decreased liver function |
ORPHA:79327 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, Short stature, Failure to thrive in infancy, High, narrow palate, Esop... |
ORPHA:96149 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| 2Q32Q33 Microdeletion Syndrome |
|
Short stature, Cleft palate, Fine hair, Growth delay, High palate, Sparse hair, Decreased testicu... |
ORPHA:251019 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Cryptorchidism, Obesity, High palate, Sparse hair, Decreased testicu... |
OMIM:619185 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
| Stuve-Wiedemann Syndrome 1 |
|
Short stature, Elbow flexion contracture, Knee flexion contracture, Smooth tongue, Thin skin, Dys... |
OMIM:601559 |
| Localized Junctional Epidermolysis Bullosa |
|
Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atro... |
ORPHA:251393 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Sparse hair |
ORPHA:1839 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Flexion contracture, Dehydration, Growth delay, Intrauterine growth r... |
OMIM:616271 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Marden-Walker Syndrome |
|
High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft palate, Zollinger-Ellison syndrome, ... |
OMIM:248700 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypoglycemia, Hypothyroidism, Delayed puberty, Hepatocellular adenoma, Hypoglycemic... |
ORPHA:79259 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High palate,... |
ORPHA:284180 |
| Acces Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Tracheoesophageal fistula, Failure to thrive, Aplasia cu... |
OMIM:619959 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Hypoplastic fingernail, Postnatal growth retardation, Cryptorchidism, Dehydration, ... |
ORPHA:96191 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Protein-losing enterop... |
ORPHA:95428 |
| Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Midgut malrotation, High, narrow palate, Pyloric stenosis, Cleft palate |
ORPHA:2409 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Elevated stool chloride content, Dehydration, Growth delay, Failure to thrive |
OMIM:214700 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Sparse eyelashes, Small for gestation... |
OMIM:268400 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:615280 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
| Premature Aging Syndrome, Penttinen Type |
|
Flexion contracture of finger, Skin nodule, Corneal stromal edema, Thin skin, Dermal atrophy, Spa... |
OMIM:601812 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Anauxetic Dysplasia 2 |
|
Short stature, Flexion contracture, Macroglossia, Small nail, Nail dysplasia, Sparse hair, Intrau... |
OMIM:617396 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Mednik Syndrome |
|
Abnormal intestine morphology |
ORPHA:171851 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Short stature, Trichoschisis, Small for gestational age, Ma... |
OMIM:601675 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Constipation, Short stature, Vomiting, Hypertonic dehydration |
OMIM:125800 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... |
ORPHA:512 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Constipation, Short stature, Vomiting, Hypertonic dehydration |
OMIM:304800 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... |
OMIM:608594 |
| Orofaciodigital Syndrome Type 1 |
|
Hamartoma of tongue, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Lobulated tongu... |
ORPHA:2750 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Muir-Torre Syndrome |
|
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... |
ORPHA:587 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Pituita... |
ORPHA:913 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Skin erosion, Gastrointestinal inflammation, Growth delay, A... |
ORPHA:79411 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Atrophic scars, Nail dystrophy, Dermal atrophy, Abnormal toenail morphology,... |
ORPHA:89843 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Epidermoid cyst, Stomach cance... |
ORPHA:733 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Fanconi Anemia, Complementation Group S |
|
Short stature, Low anterior hairline, Narrow palate, Ovarian neoplasm, Long eyelashes, Ovarian ca... |
OMIM:617883 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Arterial Tortuosity Syndrome |
|
Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, High palate, Thin skin, Bifi... |
OMIM:208050 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
| Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulat... |
ORPHA:20 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Flexion contracture, Gastroesophageal reflux, Nevus, Delayed puberty, Ap... |
ORPHA:89842 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Polyhydramni... |
OMIM:613610 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Dehydration, Growth delay, Failure to thrive |
OMIM:615453 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Short stature, Splenomegaly, Enterocolitis, Failure to thrive |
OMIM:616050 |
| Esophageal Atresia |
|
Barrett esophagus, Small for gestational age, Intestinal malrotation, Polyhydramnios, Failure to ... |
ORPHA:1199 |
| Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Gast... |
ORPHA:93932 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Epidermoid cyst, Pilomatrixoma, Adenomatous colonic... |
ORPHA:247806 |
| Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Pyloric stenosis, Midgut malrotation, Cryptorchidism, Cleft palate |
OMIM:263750 |
| Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
| Xeroderma Pigmentosum |
|
Macule, Alopecia, Short stature, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patche... |
ORPHA:910 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Hypopigmented skin patches, Celiac disease |
ORPHA:3143 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty |
OMIM:618985 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Hypoplastic pilosebaceous units, Sparse eyebr... |
OMIM:601345 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... |
ORPHA:158684 |
| Mednik Syndrome |
|
Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Neonatal death, Volvulus... |
OMIM:609313 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Esophageal varix, Abse... |
OMIM:616028 |
| Zygomycosis |
|
Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonit... |
ORPHA:73263 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Rectal prolapse, Biliary tract ... |
OMIM:175200 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Epidermoid cyst, Ampulla of Vater carcinoma, Piloma... |
ORPHA:79665 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Thin s... |
OMIM:112250 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Absent eyelashes, Cleft palate, Mul... |
ORPHA:2316 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Stomatitis, Hepatocellular carcinoma, Chronic pancreatitis, Gout, Inf... |
OMIM:232240 |
| Arterial Tortuosity Syndrome |
|
Hiatus hernia, Pyloric stenosis, Gastroesophageal reflux, Thin skin, Esophagitis, Median cleft li... |
ORPHA:3342 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Failure to thrive, Edema, Skin erosion, Esophageal stricture, Paronychia, Dehydration, ... |
ORPHA:79404 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts, Jaundice, Bile du... |
OMIM:208500 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Hypothyroidism, ... |
OMIM:619487 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Pancreatitis, Minimal change glomerulonephritis |
ORPHA:1830 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... |
ORPHA:2963 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fine hair, Grow... |
ORPHA:920 |
| Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesophageal reflux... |
ORPHA:586 |
| Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Polyhydramnios, Asplenia, Esophageal atresia, Gastrointestinal... |
OMIM:164280 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Pyloric stenosis, Cleft palate |
ORPHA:435638 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Short stature, Small for gestational age, Postnatal growth retardation, Achilles tendon contractu... |
OMIM:611091 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Arthritis, Erysipel... |
ORPHA:342 |
| Cushing Disease |
|
Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, I... |
ORPHA:96253 |
| Zellweger Syndrome |
|
Cryptorchidism, Pyloric stenosis, High palate, Malabsorption |
ORPHA:912 |
| Fryns Syndrome |
|
Hypoplastic fingernail, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic h... |
ORPHA:2059 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Cryptorchidism, Dehydration, Adrenocorticotropic hormone excess, Failure to thrive, Congenital ad... |
ORPHA:90791 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Agenesis of pineal gland, Multiple joint contractures, Short stature, Numerous... |
ORPHA:536471 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
| Cat Eye Syndrome |
|
Preauricular pit, Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal at... |
OMIM:115470 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... |
ORPHA:679 |
| Irida Syndrome |
|
Abnormal intestine morphology |
ORPHA:209981 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Small for gestational age, Recurrent pancreatitis, Thin skin, Dysphagia, Spars... |
OMIM:606721 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Short uvula, Hydrops fetalis, Cleft palate, Fine hair, High palate, Hepatic fibros... |
OMIM:614091 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Short stature, Cirrhosis, Sparse hair, Failure to thrive... |
OMIM:242150 |
| Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Myopathy, Stillbirth, Du... |
OMIM:243605 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
| Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Skeletal muscle atrophy, Short stature, Splenomegaly, Weight loss,... |
OMIM:614162 |
| Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Male hypogonadism, Pancreatitis |
OMIM:619471 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys... |
OMIM:269700 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Edema, Splenomegaly, Subcutaneous nodule, Weight loss |
ORPHA:33577 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
| Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Dehydration |
ORPHA:35710 |
| Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Intestinal malrotation, Generalized h... |
ORPHA:1553 |
| Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Sacral dimple, Polyhydramnios, Cryptorchidism, Cleft palate, Camptodactyly, In... |
OMIM:247200 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Short stature, Cryptorchidism, Growth delay, Thin skin |
ORPHA:2719 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Spar... |
OMIM:300953 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Flexion contracture, Growth delay, Sparse body hair, ... |
ORPHA:2850 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Gastroesophageal reflux, Cleft palate |
ORPHA:261197 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... |
OMIM:614941 |
| Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... |
ORPHA:157794 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Embryonal... |
OMIM:257300 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive, Fine hair |
ORPHA:2118 |
| Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Cryptorchidism, Ectopic anus, Breast aplasia, Hypoplastic nipples, Anal atresia |
ORPHA:3138 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency |
OMIM:307030 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97278 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:99880 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive, Oral l... |
OMIM:616353 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Facial palsy, Cryptorchidis... |
OMIM:615873 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Eosinophilic infiltration of the esophagus, Malabsorption, Growth delay,... |
OMIM:615508 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Exocrine pancreatic insufficiency |
ORPHA:508498 |
| Serkal Syndrome |
|
Growth delay, Malrotation of small bowel, Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:139466 |
| Jacobsen Syndrome |
|
Short stature, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Abnormality of the anus,... |
ORPHA:2308 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Sparse facial hair, Sparse axillary hair, Small for gestational age, Intrauterine ... |
OMIM:608154 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudoh... |
ORPHA:116 |
| Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Cryptorchidism, Fine hair, Growth delay, Delayed pubert... |
OMIM:616817 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Gastroesophageal reflux, Thin skin |
ORPHA:449291 |
| Superficial Epidermolytic Ichthyosis |
|
Thin skin, Edema |
ORPHA:455 |
| Microform Holoprosencephaly |
|
Short stature, Cleft palate, Intrauterine growth retardation, EMG: myopathic abnormalities, Panhy... |
ORPHA:280200 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Focal dermal aplasia/hypoplasia, Cleft palate |
OMIM:164180 |
| Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Brittle hair, Gastritis, Short stature, Hypopigmentation of hair, ... |
ORPHA:84064 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Flexion contracture, High palate, Dysphagia, Sparse hair, Failure to thrive |
OMIM:620001 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Hypothyroidism, Hepatomegaly, Short stature, Portal hyp... |
OMIM:243800 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Congenital muscular torticollis, Failure to thrive, Intestinal malrotation, Hiatus ... |
ORPHA:2538 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
| Cartilage-Hair Hypoplasia |
|
Anal stenosis, Fair hair, Aganglionic megacolon, Absent pubertal growth spurt, Sparse facial hair... |
OMIM:250250 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... |
ORPHA:300373 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, High palate, Supernumerary nipple |
ORPHA:457279 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Cleft palate, Anteriorly placed anus, Growth delay, Camptodactyly, Sparse hair |
OMIM:619980 |
| Koolen-De Vries Syndrome |
|
High, narrow palate, Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft palate |
ORPHA:96169 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Hypoplastic nipples, Thin skin, Camptod... |
OMIM:200110 |
| Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... |
ORPHA:550 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Postnatal growth retardation, Atrophic scars, High pala... |
ORPHA:536467 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
| Bainbridge-Ropers Syndrome |
|
Thick eyebrow, Intestinal malrotation, Supernumerary nipple, Polyhydramnios, Highly arched eyebro... |
OMIM:615485 |
| Restrictive Dermopathy 1 |
|
Limb joint contracture, Sparse eyelashes, Polyhydramnios, Short nail, Absent eyelashes, Sparse ey... |
OMIM:275210 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Short stature, Cryptorchidism, Widow's peak, Furrowed tongue, Gastroesophageal reflux, High palat... |
OMIM:616975 |
| Fanconi Anemia, Complementation Group Q |
|
Short stature, Esophageal atresia, Biliary atresia, Anteriorly placed anus, Growth delay |
OMIM:615272 |
| Scarf Syndrome |
|
Diastasis recti, Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipp... |
ORPHA:3134 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| 2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Supernumerary nipple |
ORPHA:1001 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Pyloric stenosis, Gastrointestinal dysmotility, Macroglossia, Gastro... |
ORPHA:363705 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormality of the endocrine system, Abnormali... |
ORPHA:228123 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Eosinophilia, Ileus, Hepatitis, Failure to thrive |
OMIM:304790 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pyloric stenosis, Cryptorchidism, Anteriorly placed anus, High palate, Anal atresia |
OMIM:619148 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Short stature, Anterior pituitary hypoplasia, Small for gestational ... |
ORPHA:464306 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... |
ORPHA:117 |
| Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth retardation, Duo... |
OMIM:300514 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... |
OMIM:613102 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Short stature, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal transluce... |
ORPHA:1052 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Sparse eyelashes, Postnatal growth retardation, Cryptorchidism, Sparse eyebrow, Gr... |
OMIM:613026 |
| Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Brittle hair, Short stature, Slow-growing hair, Failur... |
ORPHA:1340 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Duodenal stenosis |
ORPHA:2547 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Cryp... |
OMIM:235510 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... |
OMIM:203700 |
| Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia |
OMIM:227810 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ectopic posterior pituitary... |
ORPHA:508488 |
| Opitz-Kaveggia Syndrome |
|
Skin tags, Anal stenosis, Multiple joint contractures, Short stature, Intestinal malrotation, Sac... |
OMIM:305450 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Camptodactyly... |
OMIM:249000 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Hydrops fetalis, Dehydration, Growth delay, Intrauterine growth retardation, Failure to... |
ORPHA:79282 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Myotonic Dystrophy 1 |
|
Polyhydramnios, Frontal balding, Facial diplegia, Dysphagia, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Failure to thrive, Flexion contracture, High palate, Small nail, Nail dysplasia,... |
OMIM:601110 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Diastasis recti, Polyhydramnios, Asplenia, Esophageal atresia, Nonimmune ... |
OMIM:265380 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Hepatic necrosis, Nail pits, Premature graying of hair, Nail dystrophy, Ci... |
OMIM:127550 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Retroperitoneal fibrosis, Orchitis, Keratitis, Abnormality of the anterio... |
ORPHA:449563 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Dysphagia, Sparse hair, Intrauterine growth retardation, Oligohydramnios |
OMIM:618253 |
| Congenital Tracheal Stenosis |
|
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... |
ORPHA:141127 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Ileus, Dysphagia |
OMIM:613327 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Pineal cyst, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
| Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer, Short stature, Lymphedema, Low posterior hairline, Web... |
OMIM:605822 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ducts, Cirrhosis, Prol... |
OMIM:118450 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Short stature, Malabsorption, Cryptorchidism, Narrow pala... |
ORPHA:534 |
| Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation, Sparse body... |
ORPHA:1133 |
| Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Malabsorption, Dehydration, Growth delay, Failu... |
ORPHA:47159 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Small for gestational age, Ankle flexion contracture, Polyhydramnios, Cryptorc... |
ORPHA:464311 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Short stature, Generalized hypopigmentation of hair, Premature graying of hair... |
ORPHA:3322 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97261 |
| Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Diabetes insipidus, Skin rash, Inflamma... |
ORPHA:900 |
| Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... |
ORPHA:528 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Abno... |
ORPHA:449395 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Short stature, Sparse eyelashes, Failure to thrive, ... |
OMIM:264090 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod... |
OMIM:150400 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Thin skin, Striae distensae |
OMIM:610489 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow |
ORPHA:3406 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Edema |
ORPHA:79278 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Obesity, Sparse body hair, Decreased testicular size |
ORPHA:2234 |
| Kleefstra Syndrome |
|
Supernumerary nipple, Pyloric stenosis, Cryptorchidism, Macroglossia, Gastroesophageal reflux |
ORPHA:261494 |
| Geroderma Osteodysplastica |
|
Growth delay, Severe short stature, Thin skin |
ORPHA:2078 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Sparse scalp hair, Aplasia/Hypoplasia of the skin, Short stature, Abnorm... |
ORPHA:902 |
| Noonan Syndrome 14 |
|
Curly hair, Scapular winging, Short stature, Polyhydramnios, Sparse eyebrow, High, narrow palate,... |
OMIM:619745 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Small for gestational age, Proportionate short stature, Synophrys, Low anterior hairline, Fine ha... |
ORPHA:391408 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Myopathy, Dermal atrophy, Skin... |
ORPHA:257 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Desmosterolosis |
|
Severe short stature, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Splenomegaly, Submu... |
ORPHA:35107 |
| Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Neon... |
OMIM:311900 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Colitis, Nail dystrophy, Intrauterine growth r... |
OMIM:615190 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Edema, Xerostomia, Blepharochalasis, Abnormal spleen morphology, Na... |
ORPHA:85448 |
| Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Facial hypotonia, Oral-pharyngeal dysphagia, Gastroint... |
ORPHA:2131 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Short stature, Cryptorchidism, Truncal obesity, Sparse hair, Camptodacty... |
ORPHA:127 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic hepatitis, Hepat... |
ORPHA:3260 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... |
ORPHA:48818 |
| Scedosporiosis |
|
Subcutaneous nodule, Pleural empyema, Abnormal jejunum morphology |
ORPHA:449280 |
| Dend Syndrome |
|
Vomiting, Dehydration |
ORPHA:79134 |
| Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis |
ORPHA:36426 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
| Desbuquois Syndrome |
|
Severe short stature, Camptodactyly of finger, Abnormal eyelash morphology, Aplasia/Hypoplasia of... |
ORPHA:1425 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... |
OMIM:124000 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Polyhydramnios, Lymphedema, Postnatal growth retardation, Cryptorchidism, Splenome... |
OMIM:613563 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Malabsorption, Asplen... |
OMIM:240300 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Epidermoid cyst, Adenomatous colonic polyposis, Multiple gastric polyps, Desm... |
OMIM:175100 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Short stature, Hyperconvex nail, Gastroesophageal reflux, Sparse hair, Failure to thrive |
OMIM:619721 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Short stature, Polyhydramnios, Large for gestational age, Cryptorc... |
OMIM:607721 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature, Ankle flexion contracture |
OMIM:619985 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
| Toxic Epidermal Necrolysis |
|
Conjunctivitis, Pancreatitis |
ORPHA:537 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Short stature, Synophrys, Atypical scarring of skin, Myopathy, High pala... |
ORPHA:536545 |
| Koolen-De Vries Syndrome |
|
Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft palate, High palate |
OMIM:610443 |
| Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis |
ORPHA:846 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... |
ORPHA:508 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Numerous nevi, Short stature, Slow-growing hair, Polyhydramnios, Abse... |
OMIM:115150 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Hepatic fibrosis, Gastroesophageal reflux, ... |
OMIM:619534 |
| Lysinuric Protein Intolerance |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:222700 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Short stature, Sparse hair, Polycystic ovaries |
OMIM:268020 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Short stature, Camptodactyly of finger, ... |
ORPHA:2990 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, Anasarca, Protein-losing ente... |
OMIM:618183 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Tracheoes... |
ORPHA:3068 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Hepatosplenomegaly, Patch... |
OMIM:606367 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Adeno... |
ORPHA:79076 |
| Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Epidermoid cyst, Sparse eyebrow, High, na... |
OMIM:230740 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Short stature, Polyhydramnios, Growth delay, Constipation |
ORPHA:223 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Epidermoid cyst, Early balding, Adenomatous colonic polyposis, Desmoid tumors... |
ORPHA:261584 |
| Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Short stature, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue no... |
OMIM:311200 |
| Knobloch Syndrome 2 |
|
Pyloric stenosis |
OMIM:618458 |
| Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Furrowed tongue, Nail dystrophy, Sparse hair, Abnormal toen... |
ORPHA:140936 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short stature, Highly arched eyebrow, Congenital diaphragmatic hernia, Asymmetric, linear skin de... |
OMIM:300887 |
| Macs Syndrome |
|
Alopecia, Palpebral edema, Short stature, Sparse eyebrow, Cryptorchidism, High palate, Decreased ... |
OMIM:613075 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
| Trichorhinophalangeal Syndrome, Type I |
|
Scapular winging, Short stature, Thin nail, Slow-growing hair, Concave nail, Narrow palate, Leuko... |
OMIM:190350 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Elevated circulatin... |
OMIM:619573 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Short stature, Decreased response to growth hormone stimulation test, Camptoda... |
ORPHA:3455 |
| Apert Syndrome |
|
Pyloric stenosis, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Ectopic anus, ... |
OMIM:101200 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Failure ... |
OMIM:612132 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Aplasia cutis congenita, Toenail dysplasia |
OMIM:615297 |
| Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
| Cornelia De Lange Syndrome 1 |
|
Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft... |
OMIM:122470 |
| Alopecia Antibody Deficiency |
|
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... |
ORPHA:1006 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Short stature, Diastasis recti, Elevated circulating luteinizing hormone level,... |
OMIM:618419 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th f... |
ORPHA:1883 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Camptodactyly of finger, Growth delay, Sparse hair, Intrauterine growt... |
OMIM:610756 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Edema |
OMIM:177000 |
| Osteogenesis Imperfecta, Type X |
|
Pyloric stenosis |
OMIM:613848 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... |
ORPHA:168558 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Polyhydramnios, Asplenia, Posteriorly placed anus, Hypoplastic toenails, Biliary at... |
OMIM:306955 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Cleft palate, Patchy ... |
OMIM:106260 |
| Marburg Hemorrhagic Fever |
|
Pericarditis, Hypoglycemia, Maculopapular exanthema, Skin rash, Orchitis, Jaundice, Uveitis, Arth... |
ORPHA:99826 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... |
ORPHA:289548 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short stature, Camptodactyly of finger, Sparse eyelashes, Sparse eyebrow, Leukonychia, High palat... |
ORPHA:77258 |
| Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Small for gestational age, High palate, Low posterior hairline |
OMIM:613174 |
| Papillon-Lefèvre Syndrome |
|
Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigmented skin patches,... |
ORPHA:678 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... |
OMIM:234050 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Sacral dimple, Rhizomelia, Aganglionic megacolon, Malabsorption, Sparse eyebrow, Ab... |
ORPHA:175 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Esophageal neoplasm, Verrucous papule, Nail dystrophy, Adenocarcinoma ... |
ORPHA:79501 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Dehydration, Growth delay, Constipation, Vomiting |
ORPHA:411629 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inf... |
ORPHA:186 |
| Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Facial palsy, Congenital localized abs... |
ORPHA:1114 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Malabsorption, Gastrointestinal dysmotility, Aplasia/Hypoplasia of the abdominal wall musculature... |
ORPHA:285 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting, Dehydration |
ORPHA:230 |
| Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:267000 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
| Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Short stature, Thick hair, Postnatal growth retardation, Coarse hair, High... |
ORPHA:357074 |
| Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... |
ORPHA:1647 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
| Diets-Jongmans Syndrome |
|
Short stature, Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Duodenal atresia |
OMIM:618846 |
| Scorpion Envenomation |
|
Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia |
ORPHA:466677 |
| Feingold Syndrome Type 1 |
|
Jejunal atresia, Short stature, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duode... |
ORPHA:391641 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Alopecia, Absent eyebrow, Short stature, Splenomegaly, Jaundice, Loss of eyelashes,... |
OMIM:263700 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux |
OMIM:613177 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Nail pits, Fine hair, C... |
OMIM:308300 |
| Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Nevus, S... |
OMIM:613451 |
| Knobloch Syndrome |
|
Pyloric stenosis |
ORPHA:1571 |
| Cholera |
|
Diarrhea, Vomiting, Dehydration |
ORPHA:173 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Ankyloglossia, Pyloric stenosis, Cleft palate |
ORPHA:261330 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, H... |
ORPHA:231222 |
| Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea, Dehydration |
ORPHA:31824 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin, Cachexia, Abnormal hair morphology, Flexion contracture, Weight l... |
ORPHA:1979 |
| Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... |
ORPHA:1231 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Hepatosp... |
ORPHA:470 |
| Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colitis, Gastroesophageal reflux, High... |
OMIM:617137 |
| Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:203800 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Low anterior hairline, Upper eyelid edema, Long eyelashes, Sparse hair, Hirsutism |
OMIM:616819 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Joint swelling, High palate, Thin skin, Fle... |
OMIM:618175 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Cachexia, Skin ulcer, Dermal atrophy |
ORPHA:2047 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Short stature, Postnatal growth retardation, Limb-girdle muscular ... |
ORPHA:96180 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Short stature, Cleft palate, Atrophic scars, Decreased body weight, Sparse hair, Joint contracture |
OMIM:615349 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Short stature, Alopecia totalis, Small for gestational age, Facial edema, Cryptorchid... |
ORPHA:221016 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Short stature, Polyhydramnios, Preauricular skin tag, Rectal prolapse, Pseudohypop... |
OMIM:617157 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Polyhydramnios, Congenital pyloric atresia, Nail dystrophy, Aplasia cutis congenita, Intestinal a... |
ORPHA:79403 |
| Immunodeficiency 85 And Autoimmunity |
|
Growth delay, Villous atrophy, Failure to thrive in infancy |
OMIM:619510 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke... |
ORPHA:2847 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Short stature, Small for gestational age, Failure to thrive in infancy, Submucous c... |
OMIM:618891 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Facial edema, Periorbital edema, Xerostomia,... |
ORPHA:449432 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... |
ORPHA:293987 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Short stature, Protruding tongue, Postnatal growth retardation, Long eyelashes, Sp... |
OMIM:212066 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Short stature, Alopecia totalis, Small for gestational age, Facial edema, Cryptorchid... |
ORPHA:221008 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Macroglossia, Sparse hair, Anal... |
ORPHA:870 |
| Distal Renal Tubular Acidosis |
|
Short stature, Diarrhea, Dehydration, Growth delay, Constipation, Vomiting |
ORPHA:18 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Rhizomelia |
ORPHA:1515 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Bilateral cleft lip and palate, Dystrophic toenail, N... |
ORPHA:3253 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis, I... |
OMIM:266200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Alopecia totalis, Pericardial effusion, Cholelithiasis, Intrauterine g... |
OMIM:618775 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Splenomegaly, P... |
OMIM:276700 |
| Tarp Syndrome |
|
Failure to thrive, Abnormal hair pattern, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal du... |
ORPHA:2886 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Woolly hair, Aplasia/Hypopl... |
ORPHA:565 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Severe short stature, Camptodactyly of finger, Ankle flexion contrac... |
ORPHA:468631 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased testicular size, Eunuchoid habitus, Cryptorchidism, Cleft palate, Sparse body hair, Hyp... |
ORPHA:432 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr... |
OMIM:615381 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Short stature, Small for gestational age, Polyhydramnios, Dehydration, Failu... |
OMIM:601678 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Nonimmune hydrops fetalis, Edema, P... |
OMIM:212065 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Small hypothenar eminence, Streak ovary, Sparse facial hair, Alopeci... |
ORPHA:2232 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, High palate |
OMIM:614105 |
| Jacobsen Syndrome |
|
Pyloric stenosis, Annular pancreas, Cryptorchidism |
OMIM:147791 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Polyhydramnios, Edema, Postnatal growth retardation, Sparse eyebrow... |
OMIM:302960 |
| Bohring-Opitz Syndrome |
|
Nevus flammeus, Short stature, Facial hypotonia, Synophrys, Bilateral wrist flexion contracture, ... |
ORPHA:97297 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
| Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Splenomegaly, Hepatitis, Weight loss, Postauricular p... |
OMIM:619381 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Gastroesophageal reflux, Nail dysplasia, S... |
OMIM:616682 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Failure to thrive, Preauricular skin ... |
OMIM:601358 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, High palate, Short stature, Cryptorchidism, Intussusce... |
OMIM:135900 |
| White-Sutton Syndrome |
|
Short stature, Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Cleft palate, Gastroes... |
OMIM:616364 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Oral-pharyngeal dysphagia, Postnatal growth retardation, High, narrow palate, Syno... |
OMIM:300966 |
| Vascular Ehlers-Danlos Syndrome |
|
Macule, Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, High, ... |
ORPHA:286 |
| Kid Syndrome |
|
Psoriasiform dermatitis, Sparse eyelashes, Postnatal growth retardation, Scarring alopecia of sca... |
ORPHA:477 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Rhabdomyolysis, Dehydration, Dysphagia |
ORPHA:94093 |
| Hamamy Syndrome |
|
Hypoparathyroidism, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hig... |
OMIM:611174 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Proportionate short stature, Spar... |
OMIM:234100 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
| Hennekam Syndrome |
|
Mild postnatal growth retardation, Camptodactyly of finger, Sparse axillary hair, Malabsorption, ... |
ORPHA:2136 |
| Branchiooculofacial Syndrome |
|
Postauricular pit, Premature graying of hair, Gastroesophageal reflux, Sparse hair, Preauricular ... |
OMIM:113620 |
| Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
| Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:309400 |
| Trisomy 8P |
|
Sacral dimple, Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Cleft pal... |
ORPHA:264450 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Orchitis, Splenomegaly, Jaundice, Epididymitis, Erythema nodosu... |
ORPHA:99827 |
| Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia, Dehydration |
ORPHA:2260 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Absent hair |
OMIM:614940 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
| Scarf Syndrome |
|
Diastasis recti, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nippl... |
OMIM:312830 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Submucous cleft hard pa... |
ORPHA:1071 |
| Neurofibroma |
|
Skin tags, Melanocytic nevus, Enlargement of parotid gland, Multiple intestinal neurofibromatosis... |
ORPHA:252183 |
| Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, Cryptorchidism, Anteriorly placed anus, Glossoptosis,... |
OMIM:602535 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cleft palate, Furrowed tongue, Gastroesophageal reflux, High palate, Sparse hair, Nevus flammeus ... |
OMIM:616449 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cryptorchidism, Abnormal mesentery morphology, Malrotation of small bowel,... |
ORPHA:2953 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Limb hypertonia, Small nail, Aplasia cutis congenita, Oligohydra... |
OMIM:614219 |
| Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Atypical scarring of skin, High palate, Thin skin, Bifid uvula, Striae d... |
ORPHA:60030 |
| Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Narrow palate, High palate, Disproportionate short-limb short stature, Spa... |
OMIM:618644 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... |
OMIM:608156 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Furrowed tongue, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Spa... |
OMIM:158310 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Splenomegaly, Growth delay, Inflammation of the large intest... |
OMIM:614700 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Preauricular pit, Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Short stature, Facial... |
OMIM:620186 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Hyperconvex fingernails, Gastroesophageal reflux, Aplasia cutis congenita ... |
OMIM:194190 |
| Toriello-Lacassie-Droste Syndrome |
|
Aplasia/Hypoplasia of the skin, Aganglionic megacolon, Polyhydramnios, Growth delay, Failure to t... |
ORPHA:3339 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferas... |
OMIM:611881 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Small for gestational age, Growth delay, Small nail, Nail dysplasia, Sparse hair, Fai... |
OMIM:614813 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Facial hypotonia, Synophrys, Low posterior hairline, Thin eyebrow, Sparse hair |
OMIM:619320 |
| Marden-Walker Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2461 |
| Leprosy |
|
Urticarial plaque, Skeletal muscle atrophy, Absent eyebrow, Alopecia, Hypopigmented macule, Abnor... |
ORPHA:548 |
| Bartter Syndrome, Type 3 |
|
Hyperaldosteronism, Dehydration |
OMIM:607364 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Short stature, Decreased response to growth hormone stimulation t... |
ORPHA:1896 |
| Iniencephaly |
|
Rhizomelia, Congenital diaphragmatic hernia, Polyhydramnios, Arthrogryposis multiplex congenita, ... |
ORPHA:63259 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Neonatal death, Skin erosion, Anony... |
OMIM:609638 |
| Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail |
ORPHA:384 |
| Carney Complex |
|
Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Atypical nevi in non-sun exposed ... |
ORPHA:1359 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair |
OMIM:614099 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
High palate, Joint contracture of the 5th finger, Gastroesophageal reflux, Sparse hair, Intrauter... |
OMIM:619934 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Small bowel diverticula |
ORPHA:90349 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:444077 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Short stature, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed ... |
OMIM:617063 |
| Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hepatosplenomegaly, Contractures of the large joints, Joint swe... |
ORPHA:96123 |
| Ulnar-Mammary Syndrome |
|
Anal stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Pyloric stenosis, Hypo... |
OMIM:181450 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Cryptorchidism, Cleft palate, Coarse hair, Gastroesophageal reflux, ... |
OMIM:607812 |
| Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Torticollis, Rhizomelia, Hypoplasia of the musculature, Pericardia... |
ORPHA:79328 |
| Poikiloderma With Neutropenia |
|
Short stature, Edema, Sparse eyebrow, Splenomegaly, Low posterior hairline, Growth delay, Nail dy... |
OMIM:604173 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Rhabdomyosarcoma, Polyhydramnios, Concave n... |
OMIM:218040 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopec... |
OMIM:181270 |
| Restrictive Dermopathy |
|
Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Short nail, Aplasia/Hypopla... |
ORPHA:1662 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Smoot... |
OMIM:257980 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Postnatal growth retardation, Cryptorchidism, Cleft palate, Fine hair, High palate, Sparse hair, ... |
ORPHA:251028 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive |
OMIM:617988 |
| Yellow Fever |
|
Acute pancreatitis, Pancreatic hyperplasia, Skin rash, Jaundice |
ORPHA:99829 |
| Juvenile Nephropathic Cystinosis |
|
Growth delay, Hypothyroidism, Vomiting, Dehydration |
ORPHA:411634 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Short stature, Frontal balding, Testicular adrenal rest tumor, Dehydration, Weight loss, Failure ... |
ORPHA:90794 |
| Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Severe short stature, Small for gestational age, Postnatal growth retarda... |
OMIM:133540 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Asplenia, Abdominal situs inversus, Intrauterine growth retardation, Abdo... |
OMIM:270100 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism, Limb hypertonia |
OMIM:618087 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Pyloric stenosis, Cryptorchidism, Cleft palate, Gastroesophageal reflux, M... |
ORPHA:818 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Alopecia, Aplasia cutis congenita on trunk or limbs, Growth delay, ... |
ORPHA:79396 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Myopathy, Hepatic fibrosis, Cirrh... |
ORPHA:14 |
| Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Palpebral edema, Diastasis recti, Sparse eyebrow, Splenomegaly, Growt... |
OMIM:252500 |
| 1P36 Deletion Syndrome |
|
Macule, Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Abnormality of the s... |
ORPHA:1606 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Oral leukopla... |
OMIM:268130 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Decreased response to growth hormone stimulation test, Pyloric stenosis, Crypt... |
ORPHA:268261 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Short stature, Sparse eyelashes, Cryptorchidism, Esophageal st... |
OMIM:305000 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ... |
ORPHA:1005 |
| Rothmund-Thomson Syndrome |
|
Calcinosis, Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, Alopecia totalis, Sm... |
ORPHA:2909 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Rhizomelia, Thin nail, Malformation of the hepatic ductal plate, Short nail, Slow-g... |
OMIM:218330 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Short stature |
OMIM:617763 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Skin ulcer, Skin fissure, Sparse hair |
ORPHA:659 |
| Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Polyhydramnios, Diarrhea, Dehydration, Hyperaldosteronism, Constipation, Vomiting |
OMIM:241200 |
| Fanconi Anemia |
|
Meckel diverticulum, Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Crypt... |
ORPHA:84 |
| Marshall Syndrome |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Cleft palate, High palate, Sparse hair |
ORPHA:560 |
| Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Aplasia/Hypoplasia of the skin, Edema, Ga... |
ORPHA:221 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Cr... |
OMIM:270400 |
| Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... |
ORPHA:1657 |
| Degcags Syndrome |
|
Jejunal atresia, Oral-pharyngeal dysphagia, Protruding tongue, Pyloric stenosis, Hiatus hernia, C... |
OMIM:619488 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Short stature, Skin ulcer, Fine hair, Sparse hair |
ORPHA:1806 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas |
OMIM:618162 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Short stature, Small for gestational age, Cryptorchidism, High palate, Sparse hair |
OMIM:300661 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Highly arched eyebro... |
OMIM:280000 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands, Lymphedema |
OMIM:300291 |
| Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Esophageal stricture, Flexion contractur... |
ORPHA:2908 |
| Kindler Syndrome |
|
Ridged nail, Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Dermal atrophy, Dysphag... |
OMIM:173650 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Hypergly... |
OMIM:220111 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Abnormality of the ovary |
ORPHA:722 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nevus flammeus, Diastasis recti, Cryptorchidism, Pancreatic hyperplasia, Macrogloss... |
OMIM:130650 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Skeletal muscle atrophy, Myositis, Nail dystrophy, Periungual eryt... |
OMIM:615934 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Short stature, Intestinal malrotation, Supernumerary nipple, Hiatus he... |
OMIM:305600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Short stature, Shoulder muscle hypoplasia, Eosinophilia, Edema of th... |
OMIM:274000 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
| Hereditary Elliptocytosis |
|
Postnatal growth retardation, Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundic... |
ORPHA:288 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Multiple joint contractures, Nail dystrophy |
ORPHA:100976 |
| Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... |
OMIM:614594 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Abnormal tongue morphology, Anoperineal fistula, Nail dystrophy, Sparse hair, Fail... |
ORPHA:158668 |
| Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Cholecy... |
ORPHA:774 |
| Charge Syndrome |
|
Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Facial ... |
OMIM:214800 |
| Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Short stature |
ORPHA:2833 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Coarse hair, High palate, Sparse hair |
ORPHA:50814 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Cryptorchidism, Truncal obesity, Disproportionate short-limb short stature, Sparse... |
OMIM:616541 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate, Median cleft palate |
OMIM:617402 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Sparse eye... |
ORPHA:444072 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia |
OMIM:609460 |
| Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Weaver Syndrome |
|
Deep-set nails, Diastasis recti, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Melanocy... |
OMIM:277590 |
| Teebi-Shaltout Syndrome |
|
Short stature, Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairli... |
OMIM:272950 |
| Myhre Syndrome |
|
Short stature, Small for gestational age, Pericardial effusion, Cryptorchidism, Generalized muscl... |
OMIM:139210 |
| Short Syndrome |
|
Sparse hair, Alopecia, Severe short stature, Weight loss |
ORPHA:3163 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Postnatal growth retardation, Sparse ... |
OMIM:619127 |
| Bartter Syndrome Type 4 |
|
Small for gestational age, Polyhydramnios, Dehydration, Severe failure to thrive, Failure to thrive |
ORPHA:89938 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Short stature, Sparse lateral eyebrow |
OMIM:190351 |
| Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Abnormal intrahepatic bile duct morphology, Premature graying o... |
ORPHA:363618 |
| Townes-Brocks Syndrome 1 |
|
Preauricular pit, Anal stenosis, Rectoperineal fistula, Small for gestational age, Cryptorchidism... |
OMIM:107480 |
| Roberts Syndrome |
|
Progressive flexion contractures, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, C... |
ORPHA:3103 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... |
OMIM:210710 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Thin nail, Small for gestational age, Gastrointestinal dysmotility, Growth delay, ... |
OMIM:617799 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Severe short stature, Aplasia/Hypoplasia of the skin, Sacral dimple, Congenita... |
ORPHA:2556 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, High palate, Gastroesophageal ... |
ORPHA:199 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Diastasis recti, Hiatus hernia, Cryptorchidism, Cleft palate, Atrophic sc... |
OMIM:601776 |
| Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... |
OMIM:301043 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline,... |
OMIM:250410 |
| Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Aplasia cutis congenita |
OMIM:614814 |
| Cockayne Syndrome A |
|
Hepatomegaly, Hip contracture, Dry hair, Short stature, Splenomegaly, Cryptorchidism, Atypical sc... |
OMIM:216400 |
| Knobloch Syndrome 1 |
|
Pyloric stenosis |
OMIM:267750 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis, Flexion contracture of digit |
OMIM:619208 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Anteriorly placed anus, Int... |
ORPHA:1708 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Aganglionic megacolon, Camptodactyly of finger, T... |
ORPHA:2273 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Camptodactyly of finger, Slow-growing h... |
ORPHA:2710 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Short stature, Fine hair, Sparse hair, Failure to thrive |
OMIM:257850 |
| Keutel Syndrome |
|
Alopecia, Short stature, Dermal atrophy |
ORPHA:85202 |
| Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Short stature, Esophageal carcinoma, Enterocolitis, Hepatitis, Hepatosplenomegal... |
ORPHA:391487 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Absent eyebrow, Absent eyelashes, Cryptorchidism, Extension ... |
OMIM:219000 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly, Pancreatic islet-... |
ORPHA:373 |
| Primary Fanconi Renotubular Syndrome |
|
Growth delay, Dehydration, Weight loss |
ORPHA:3337 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Short stature, Anterior pituitary hypoplasia, Aplasia of the right hemidiaphra... |
OMIM:619841 |
| Yunis-Varon Syndrome |
|
High, narrow palate, Glossoptosis, Pyloric stenosis, Cryptorchidism |
ORPHA:3472 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Postauricular pit, Hepatoblastoma, Preauricular ... |
OMIM:312870 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Cleft palate, Fine hair, High palate, Joint contracture of the 5th f... |
OMIM:164200 |
| Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Velopharyngeal insufficiency, Lo... |
OMIM:209885 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Coarse hair, Sp... |
OMIM:118650 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Severe short stature, Cachexia, Dermal atrophy,... |
OMIM:610965 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Sacral dimple, Short stature, Cyst of the ductus choledochus, Cleft palate, High pala... |
ORPHA:480880 |
| Oculoectodermal Syndrome |
|
Epidermal nevus, Supernumerary nipple, Lymphedema, Preauricular skin tag, Pineal cyst, Growth del... |
OMIM:600268 |
| Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Gastroesophageal reflux, Bro... |
OMIM:619472 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Cyst of the ductus choledochus, Unilateral facial palsy, Gastroesophageal reflux, Bi... |
OMIM:619480 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Cryptorchidism, Submucous cleft ha... |
OMIM:235730 |
| Neurocardiofaciodigital Syndrome |
|
Short stature, Small for gestational age, Sparse eyebrow, High palate, Sparse hair, Failure to th... |
OMIM:619869 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged pol... |
ORPHA:90796 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Cleft palate, An... |
OMIM:309801 |
| Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
| Renpenning Syndrome 1 |
|
Brittle hair, Short stature, Cleft palate, High palate, Camptodactyly, Sparse hair, Joint contrac... |
OMIM:309500 |
| Greenberg Dysplasia |
|
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly |
OMIM:215140 |
| Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Scapular winging, Sparse scalp hair, Mild postnatal growth retardation, Bilate... |
OMIM:150230 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Anal fissure, Flexion contracture, Gastrointestinal inflammation, Growth ... |
ORPHA:79408 |
| Lyme Disease |
|
Joint swelling, Skin nodule, Dermal atrophy |
ORPHA:91546 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Asymmetric, linear skin defects, Failure to thrive, Thyroid C cell hyperplasia |
OMIM:300952 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ankle flexion contracture, Polyhydramnios, Postnatal growth retardation, Crypto... |
OMIM:268300 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Aplasia/Hypoplasia of the skin, Facial palsy, High, narrow palate, Cryptorc... |
ORPHA:2658 |
| Wrinkly Skin Syndrome |
|
Decreased muscle mass, Short stature, Postnatal growth retardation, Cryptorchidism, High palate, ... |
ORPHA:2834 |
| Wrinkly Skin Syndrome |
|
Scapular winging, Short stature, Short nail, Hypoplasia of the musculature, Cryptorchidism, High ... |
OMIM:278250 |
| Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhydramnios, Flexion contracture... |
OMIM:601803 |
| Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Sparse scalp hair, Polyhydramnios, Cryptorchidism, Malrotation of... |
OMIM:606170 |
| Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin, Short stature |
ORPHA:1782 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive |
OMIM:140350 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Curly hair, Sparse... |
OMIM:601214 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia, Palpebral edema |
ORPHA:2036 |
| Chime Syndrome |
|
Sparse hair, Skin ulcer, Cleft palate, Fine hair |
ORPHA:3474 |
| Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan... |
ORPHA:564 |
| Cutis Marmorata Telangiectatica Congenita |
|
Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Multiple cafe-au-lait spots, Intrauteri... |
ORPHA:1556 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Severe short stature, Cryptorchidism, Submucous cleft hard palate, Loss of eyelashes, C... |
ORPHA:2636 |
| Dysosteosclerosis |
|
Disproportionate short stature, High palate, Dermal atrophy, Facial paralysis |
OMIM:224300 |
| Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Hi... |
OMIM:309800 |
| Williams Syndrome |
|
Periorbital edema, Hypoplastic toenails, Rectal prolapse, Gastroesophageal reflux, Short stature,... |
ORPHA:904 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Gastrointestinal dysmotility, Cryptor... |
ORPHA:2152 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Cryptorchidism, Cleft palate, Hydroce... |
ORPHA:261537 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Cryptorchidism, Cleft palate, Hydroce... |
ORPHA:261552 |
| Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Anomalous splenoportal venous system, Cleft palate, Perineal... |
OMIM:218600 |
| Yunis-Varon Syndrome |
|
Absent nipple, Pyloric stenosis, Cryptorchidism, High palate, Hypoplastic nipples |
OMIM:216340 |
| Menke-Hennekam Syndrome 1 |
|
Cryptorchidism, Flexion contracture, Cleft palate, Gastroesophageal reflux, High palate, Long eye... |
OMIM:618332 |
| Down Syndrome |
|
Aganglionic megacolon, Short stature, Protruding tongue, Duodenal stenosis, Macroglossia, Anal at... |
OMIM:190685 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Dermal atrophy, Severe short stature, Hypermelanotic macule |
OMIM:278800 |
| Autosomal Dominant Cutis Laxa |
|
Postnatal growth retardation, Intrauterine growth retardation, Small bowel diverticula |
ORPHA:90348 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Sparse scalp hair, Short stature, Absent facial hair, B... |
OMIM:259050 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99228 |
| Monosomy X |
|
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99226 |
| Turner Syndrome |
|
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:881 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Decreased testicular size, Fine hair |
OMIM:241080 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Loss of eyelashes, Weight loss, Dystroph... |
ORPHA:740 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Dermal atrophy, Cachexia |
ORPHA:220295 |
| Xeroderma Pigmentosum, Variant Type |
|
Growth delay, Dermal atrophy |
OMIM:278750 |
| Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
