| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicouret... |
ORPHA:2470 |
| Pancreatic Agenesis 2 |
|
Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet... |
OMIM:615935 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pancreatic aplasia, Intes... |
ORPHA:2255 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Giant cell hep... |
OMIM:607765 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Anemia, Bone pain, Thrombocytopenia, Splenomegaly, Hypocholesterolemia,... |
OMIM:610539 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Polyarticular arthritis, B lymphocytopenia, Leukocytosis, Inflammation of the lar... |
OMIM:619281 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Kyphosis, Delayed skeletal matur... |
OMIM:608776 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Abnormal small intestine morph... |
ORPHA:100025 |
| Dextrocardia |
|
Situs inversus totalis, Dextrocardia, Meckel diverticulum, Pancreatic hypoplasia, Abnormality of ... |
ORPHA:1666 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... |
ORPHA:811 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Meckel diverticulum, Hyperbilirubinemia, Pancreatic hypoplasia... |
OMIM:615710 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Intestinal hypoplasia, Pancreatic h... |
OMIM:601346 |
| Pancreatic And Cerebellar Agenesis |
|
Anemia, Pancreatic hypoplasia, Pancreatic aplasia, Joint stiffness, Reduced subcutaneous adipose ... |
OMIM:609069 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... |
OMIM:614470 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Elevated circulating hepatic transaminase concentration, Joint hypermobility... |
ORPHA:93111 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Increased circulating thyroglobulin concentration, Cholestasis, Splenomegaly, Decreased circulati... |
OMIM:610199 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... |
OMIM:620565 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoamylasemia, High palate, Pancreatic aplasia, Absent gallbladder, Small for gestational age, R... |
ORPHA:556955 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... |
ORPHA:90793 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ... |
OMIM:619644 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform... |
OMIM:243150 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Exocrine pancreatic insufficiency, ... |
OMIM:260370 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Inguinal... |
OMIM:612541 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Increased serum testosterone level, Inguinal hernia, Hydrocele testis, Clef... |
ORPHA:96181 |
| Dietary Iron Overload Disease |
|
Abnormal heart morphology, Micronodular cirrhosis, Hepatic steatosis, Increased circulating corti... |
ORPHA:139507 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Cardi... |
OMIM:212065 |
| 17Q12 Microdeletion Syndrome |
|
Elevated circulating hepatic transaminase concentration, Renal insufficiency, Pancreatic aplasia,... |
ORPHA:261265 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... |
ORPHA:90791 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Increased body weight, Osteoporosis, Adrenal hyperplasia, Dorsocervical fat pad, Diab... |
OMIM:615830 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... |
ORPHA:456312 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Accumulation of lipid droplets in small-bowel enterocytes, Fail... |
OMIM:246700 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Increased circulating cortisol... |
ORPHA:189427 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Kyphosis,... |
OMIM:219080 |
| Mirage Syndrome |
|
Leukopenia, Lymphopenia, Adrenal insufficiency, Hypospadias, Scoliosis, Hyponatremia, Achalasia, ... |
OMIM:617053 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Diabetes insipidus, High palate, Pancreatic aplasia, Elevated circulating alanine aminotransferas... |
OMIM:618500 |
| Mody |
|
Large for gestational age, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, ... |
ORPHA:552 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent infe... |
ORPHA:486 |
| Chylomicron Retention Disease |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Failure to ... |
ORPHA:71 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary ... |
ORPHA:99889 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... |
OMIM:619802 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Perimembranous ventricular septal defect, Protein-losing enteropathy, A... |
OMIM:608104 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Osteoporosis, Elevat... |
OMIM:266510 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... |
OMIM:619991 |
| Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... |
ORPHA:398063 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Annular pancreas, Aganglionic megacolon, Abnormal vertebral morphology, Pu... |
ORPHA:210122 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... |
OMIM:201910 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia |
OMIM:201710 |
| Perlman Syndrome |
|
High, narrow palate, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal herni... |
ORPHA:2849 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr... |
OMIM:602782 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia |
ORPHA:2688 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus |
ORPHA:65288 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter... |
ORPHA:90790 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at... |
OMIM:617784 |
| Kbg Syndrome |
|
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, C... |
ORPHA:2332 |
| Abetalipoproteinemia |
|
Kyphoscoliosis, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepati... |
ORPHA:14 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Diabetes insipidus, Neurogenic bladder, Decreased body weight, E... |
ORPHA:96180 |
| Feingold Syndrome |
|
Annular pancreas, Esophageal atresia, Abnormal form of the vertebral bodies, Abnormality of the s... |
ORPHA:1305 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... |
OMIM:615558 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis |
OMIM:616871 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Vertebral segmentation defect, Duodenal atresia |
ORPHA:3004 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis, Vaginal mucosal ulceration |
OMIM:618287 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Microcolon, Intestinal ma... |
OMIM:600001 |
| Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Hepatomegaly, Hypercalciuria, Hypocalcemia, Scoliosis, Elbow flexion ... |
OMIM:618440 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Abnormal circulating renin, Ventricular hypertrophy, Nephrolithiasis, Adrenal hyperp... |
ORPHA:369929 |
| Familial Hyperaldosteronism Type I |
|
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... |
ORPHA:403 |
| Alg12-Cdg |
|
Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Intestinal m... |
ORPHA:79324 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg... |
OMIM:278000 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Ectopic anus, Scoliosis, Ve... |
ORPHA:2345 |
| Alg6-Cdg |
|
Jaundice, Protein-losing enteropathy, Scoliosis, Failure to thrive, Decreased LDL cholesterol con... |
ORPHA:79320 |
| Koolen-De Vries Syndrome |
|
Narrow palate, Bicuspid aortic valve, High, narrow palate, Ureteral duplication, Hypospadias, Abn... |
ORPHA:96169 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyper... |
ORPHA:251274 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G... |
ORPHA:404 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis, Achilles ... |
OMIM:606612 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... |
ORPHA:2198 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism |
OMIM:103900 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Sacral dimple, Anemia, Pelvic kidney, Vesi... |
OMIM:603467 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... |
ORPHA:3453 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol respons... |
OMIM:201810 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes... |
OMIM:619608 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal tricuspid valve morphology, Intestinal atresia, Ventricular septal defect, Duode... |
ORPHA:3405 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Scoliosis, Patent foram... |
OMIM:610883 |
| Cushing Disease |
|
Increased body weight, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Lymphopenia, In... |
ORPHA:96253 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for ges... |
OMIM:601820 |
| Burkitt Lymphoma |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hyperuricemi... |
ORPHA:543 |
| Immunodeficiency 15B |
|
Failure to thrive, Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Cirrhosis, Intestinal lymphedema, Decreased circulating prealbumin concen... |
ORPHA:90363 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... |
OMIM:616050 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hyperlipidemia, Failure to thrive, Hypoalbuminemia, Hypercholesterole... |
OMIM:615863 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... |
OMIM:619868 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,... |
OMIM:208540 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Abnormal vertebral morphology, Esophageal atresia, Tracheoesophageal fistula, Hy... |
OMIM:300514 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Absence of the sacr... |
OMIM:306955 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Adrenal ... |
ORPHA:75234 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Perimembranous ventricular septal defect, Hepatomegaly, Fused cervical vertebrae, Cholelithiasis,... |
ORPHA:83617 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption, Hypocholesterolemia |
OMIM:614338 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Genu recurvatum, Cryptorchidism, Camptodactyly of finger, Shawl scrotum, Cleft p... |
ORPHA:915 |
| Hyperprolactinemia |
|
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia |
OMIM:615555 |
| Glycogen Storage Disease Ib |
|
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f... |
OMIM:232220 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... |
OMIM:615954 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatomegaly, Inguinal hernia, Hypocalcemia, Pancreatic lymphangiecta... |
OMIM:235255 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatomegaly, Inguinal hernia, Abnormal fallopian tube morphology, Hy... |
ORPHA:1655 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... |
OMIM:211600 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Down Syndrome |
|
Delayed puberty, Delayed skeletal maturation, Umbilical hernia, Joint hypermobility, Narrow palat... |
ORPHA:870 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Polysplenia, Omphalocele, Short... |
OMIM:200995 |
| Alg1-Cdg |
|
Decreased liver function, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, ... |
ORPHA:79327 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Scoliosis, High palate, Tracheoesophageal fistula, Congenital contract... |
ORPHA:115 |
| Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Ureteral duplication, Maternal diabetes, Ectopic kidney, Scolio... |
ORPHA:3027 |
| Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, T... |
OMIM:557000 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Anemia, Eleva... |
ORPHA:2070 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Osteoporosis, Female infertility, Primary ameno... |
OMIM:300604 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Hypospadias, ... |
ORPHA:261529 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar... |
ORPHA:244 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Cirrhosis, Hepatomegaly, Lymphangiectasis, Hyperinsuline... |
OMIM:602579 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas, Duodenal atresia |
ORPHA:1203 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hy... |
OMIM:613677 |
| Secondary Short Bowel Syndrome |
|
Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Small intestinal dysmotility, Cholest... |
ORPHA:95427 |
| Koolen-De Vries Syndrome |
|
Spondylolisthesis, Kyphosis, Pulmonic stenosis, Bicuspid aortic valve, Joint hypermobility, Hip d... |
OMIM:610443 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Elevated circulat... |
ORPHA:264580 |
| Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Lipoma, Pituitary growth hor... |
ORPHA:913 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia |
OMIM:613502 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Squalene Synthase Deficiency |
|
Hypospadias, Knee flexion contracture, Increased circulating farnesol concentration, Elevated uri... |
OMIM:618156 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
| Pearson Syndrome |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt... |
ORPHA:699 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Biconcave ve... |
ORPHA:93315 |
| Fryns Syndrome |
|
Ureteral duplication, Meckel diverticulum, Bifid scrotum, Intestinal malrotation, Aganglionic meg... |
OMIM:229850 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... |
OMIM:263300 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Mitral valve prolapse, Umbilical hernia, ... |
OMIM:618000 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
| Verheij Syndrome |
|
Scoliosis, Hemivertebrae, Truncus arteriosus, Renal cyst, Renal hypoplasia, Cleft palate, Vertebr... |
OMIM:615583 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating hepatic transaminase concentration, Biliary tract abnormality, Atretic vas d... |
OMIM:137920 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Ileal ulcer, Polyarticular arthritis, Thrombocytopenia, Lymphopenia, Hemolytic an... |
OMIM:616744 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Butterfly vertebrae, Gastroesophageal reflux, Scoliosis, Thoracic kyphoscoliosis, ... |
ORPHA:313892 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Abn... |
ORPHA:2059 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormal odontoid process morphology, Situs inversus totalis, Anal stenosis, Dextrocardia, Spina ... |
OMIM:613686 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... |
OMIM:226990 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Inguinal hernia, Neurogenic bladder, Scoliosis, High palate, Wormian bones... |
OMIM:130720 |
| Mpi-Cdg |
|
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hepatomegaly, ... |
ORPHA:79319 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... |
OMIM:619313 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Scoliosis, Anal atresia, Thoracic hemivertebrae, Type II diabetes melli... |
ORPHA:1436 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... |
OMIM:202010 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal pancreatic duct morphology, Joint disloca... |
ORPHA:1190 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Ambiguous genitalia, Hypokalemia, Infertility, O... |
ORPHA:786 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splenomegaly, Smal... |
OMIM:270400 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Spondylolisthesis, Craniosynostosis, Cervical spinal canal stenosis, Tarsal synostosis, Inguinal ... |
OMIM:178110 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Unilateral renal agenesis, Vertebral segmentation defect, Hypoplastic left heart, ... |
OMIM:618845 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase co... |
OMIM:607155 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... |
OMIM:300048 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility |
ORPHA:488191 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Cleft palate, Multiple renal cysts, Short neck, Ab... |
ORPHA:66637 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... |
OMIM:601847 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Hep... |
OMIM:304790 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, High palate, Failure to th... |
OMIM:617941 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Vesicoureteral reflux, Cleft palate, Short neck, Abnormal... |
OMIM:244600 |
| Ring Chromosome 21 Syndrome |
|
Azoospermia, Diabetes insipidus, Scoliosis, Infertility, Abnormal heart morphology, Thoracic hemi... |
ORPHA:1445 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Lymphoid nodular hyperplasia, Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Hepatic ... |
ORPHA:210548 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic ... |
ORPHA:79303 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Intestinal malrotation, Hydronephrosis, Gastrointestinal ... |
OMIM:617798 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Duodenal ulcer, Amenorrhea, Reduced bone mineral density, Neoplasm of the pancreas, ... |
ORPHA:652 |
| Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Renal insufficiency, Vesicoureteral reflux, Flat acetabular roof, Ventr... |
OMIM:617159 |
| Doors Syndrome |
|
Narrow palate, Gastroesophageal reflux, Spina bifida occulta, Hemivertebrae, High palate, Congeni... |
ORPHA:79500 |
| Immunodeficiency 31C |
|
Osteopenia, Autoimmune hemolytic anemia, Delayed puberty, Protein-losing enteropathy, Impaired ly... |
OMIM:614162 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Accel... |
ORPHA:373 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Accelerated skeletal matu... |
ORPHA:116 |
| Trigonocephaly 1 |
|
High, narrow palate, Lumbar hemivertebrae, Long penis, Meckel diverticulum, Metopic synostosis, O... |
OMIM:190440 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ambiguous genitalia, Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Pulmon... |
OMIM:257300 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv... |
OMIM:265380 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae, Camptodactyly, Thoracolumbar s... |
OMIM:113000 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive ... |
OMIM:612852 |
| Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Reduced bone mineral density, Anemia, Portal fibrosis, Increas... |
OMIM:619377 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
| Jacobsen Syndrome |
|
Annular pancreas, Inguinal hernia, Abnormal form of the vertebral bodies, Ectopic anus, Scoliosis... |
ORPHA:2308 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis, Failure to thrive, Crypt hyperplasia, Small for gestational age, Villous atrophy |
OMIM:613217 |
| Annular Pancreas |
|
High intestinal obstruction, Annular pancreas, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
High intestinal obstruction, Annular pancreas, Duodenal stenosis |
OMIM:167750 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level |
OMIM:619009 |
| Kniest Dysplasia |
|
Fused cervical vertebrae, Platyspondyly, Delayed epiphyseal ossification, Keratan sulfate excreti... |
ORPHA:485 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Gaisböck Syndrome |
|
Peptic ulcer, Hypertriglyceridemia, Hyperproteinemia, Increased red blood cell count, Elevated pl... |
ORPHA:90041 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Clitoral hypertrophy, Precocious puberty in females, Accelerated skeletal m... |
ORPHA:528 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Delayed skeletal maturation, Umbilical hernia, Narrow palate, Scoliosis, Camptoda... |
OMIM:235510 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Esophageal atresia, Hypospadias, Anterior pituitary hypoplasia, Hemivertebra... |
OMIM:206900 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemia, Ectopic kidney, Esophageal atresia, Pancytopenia, Pelvic kidney, Reticu... |
OMIM:227646 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... |
ORPHA:79076 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Cleft palate, Antecubital pterygium, Flex... |
OMIM:618469 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... |
OMIM:277300 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Decreased skull ossification, Ankyloglossia, Asplenia, Failure to thrive, Hypoplast... |
OMIM:602361 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis, Hydrocele testis |
OMIM:618810 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... |
ORPHA:79302 |
| Distal Deletion 12Q |
|
Kyphoscoliosis, Ectopic kidney, Biliary atresia, Pituitary adenoma, Polycystic kidney dysplasia, ... |
ORPHA:96149 |
| Bohring-Opitz Syndrome |
|
Narrow palate, Hyperechogenic pancreas, Sacral dimple, Gastroesophageal reflux, Joint dislocation... |
OMIM:605039 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Crohn's disease, T lymphocytopenia, Splenomegaly, Reduced natural killer cell cou... |
OMIM:619381 |
| Microform Holoprosencephaly |
|
Maternal diabetes, Hypoplasia of penis, Scoliosis, Panhypopituitarism, Hypothyroidism, Cleft pala... |
ORPHA:280200 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Cleft p... |
ORPHA:90650 |
| Feingold Syndrome 1 |
|
Gastrointestinal atresia, Annular pancreas, Tricuspid atresia, Esophageal atresia, Accessory sple... |
OMIM:164280 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Genu valgum, Delayed epiphyseal ossification, Bone pain, Macroorchi... |
ORPHA:91 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Aplasia of the uterus, Kyphosis, Delayed skeletal maturati... |
OMIM:194190 |
| Multiple Pterygium Syndrome, X-Linked |
|
Hypoplastic heart, Multiple pterygia, Joint dislocation, Cleft palate, Abnormal cervical curvatur... |
OMIM:312150 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Meckel diverticulum, Aplasia of the uterus, Patellar dislocation, Genu varu... |
OMIM:274000 |
| Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... |
ORPHA:263665 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Sacral dimple, Inguinal hernia, Pelvic kidney, Camptodactyly, Omph... |
OMIM:247200 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, Hemivertebra... |
ORPHA:2916 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Anemia, Hypokalemia, Glossitis, Hypocalcemia, Cachexia, Hamartomatous... |
OMIM:175500 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ureteral duplication, Atrioventricular canal defect, Single ventricle, Do... |
OMIM:270100 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Abnormality of the ureter, Short ... |
ORPHA:2522 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Stromme Syndrome |
|
Accessory spleen, Intestinal malrotation, Cleft palate, Hydronephrosis, Bilateral renal hypoplasi... |
OMIM:243605 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Amelogenesis imperfecta, Hyperechogenic pancreas, Reduced bone mineral density, ... |
OMIM:617052 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, Unilateral ren... |
OMIM:619227 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Fused cervical vertebrae, Patent foramen o... |
OMIM:609053 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Pancreatic hypoplasia... |
ORPHA:99885 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Umbilical hernia, Hip dislocat... |
OMIM:265000 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Isolated Biliary Atresia |
|
Decreased liver function, Xanthelasma, Elevated circulating hepatic transaminase concentration, C... |
ORPHA:30391 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Hypospadias, Gastroesophageal reflux, Unilateral renal agenesis, Pelvi... |
ORPHA:464311 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormal intestine morphology, Pancreatic cysts, Abnormally ossified vertebrae, Cle... |
ORPHA:1318 |
| Esophageal Atresia |
|
Anorectal anomaly, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Scoliosis, Cleft... |
ORPHA:1199 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Cleft palate, Short neck, V... |
OMIM:214300 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Intestinal malrotation, Camptoda... |
ORPHA:1759 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Clitoral hypertrophy, High palate, Congenital hip dislocation, Intestinal m... |
OMIM:244450 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Hypoplastic heart, Multiple pterygia, Joint dislocation, Cleft palate, Abnormal cervical curvatur... |
OMIM:253290 |
| Pancreatic Colipase Deficiency |
|
Steatorrhea, Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Fat malabso... |
ORPHA:309108 |
| Larsen Syndrome |
|
Beaking of vertebral bodies, Multiple carpal ossification centers, Spondylolysis, Spina bifida oc... |
OMIM:150250 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abn... |
ORPHA:731 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Delayed puberty, Steatorrhea, Hepatomegaly, Hypothyroidism, Failure to thrive, Diabetes mellitus,... |
OMIM:616263 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:567983 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Aplasia of the vagina, Scoliosis, Hemivertebrae, Aplasia of the uterus, Absent e... |
OMIM:271520 |
| Basal Cell Nevus Syndrome 1 |
|
Kyphoscoliosis, Cardiac rhabdomyoma, Vertebral wedging, Hamartomatous stomach polyps, Ovarian fib... |
OMIM:109400 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Hydroureter, Microcolon, Intestinal malrotation, Ompha... |
ORPHA:2241 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Large for gestational age, Decreased response to growth hormone stim... |
OMIM:213980 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Breast hypoplasia, Hypospadias, Gastroesophageal reflux, Unilateral renal agenesis, Multiple join... |
ORPHA:464306 |
| Immunodeficiency 21 |
|
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... |
OMIM:614172 |
| Mosaic Trisomy 20 |
|
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Ventricular septal defect, Ky... |
ORPHA:1724 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Elevated circulati... |
ORPHA:79240 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... |
ORPHA:92050 |
| Syndromic Diarrhea |
|
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Inguinal hernia, Pol... |
ORPHA:84064 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Delayed skeletal maturatio... |
OMIM:614114 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Kyphoscoliosis, Ectopic kidney, Kyphosis, Abnormal heart morphology, Bicuspid aortic valve, Joint... |
OMIM:301111 |
| Chops Syndrome |
|
High, narrow palate, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Tracheomalacia, Pa... |
OMIM:616368 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the patella, ... |
ORPHA:3320 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... |
OMIM:305620 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, High palate, Bilateral cryptorchidism, Hypothyroidism, Lumbar sc... |
OMIM:617796 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Dislocated radial head, Delayed skeletal maturation, Nephrocalcinosis, Abnorm... |
OMIM:268310 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Steatorrhea, Argininuria, Decreased HDL cholesterol concentration, Decrease... |
ORPHA:470 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... |
OMIM:614700 |
| Dubowitz Syndrome |
|
Aplastic anemia, Sacral dimple, Hypospadias, Gastroesophageal reflux, Inguinal hernia, High palat... |
OMIM:223370 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Duodenal ulcer, Dysphagia, Recurrent cutaneous abscess formation, Craniosynostosis, Joint hypermo... |
OMIM:147060 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Ectopic kidney, Abnormal form of the vertebral bodies, Endometriosis, ... |
ORPHA:3109 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Hydrocele testis |
OMIM:618154 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Elevated circulating he... |
ORPHA:99413 |
| Turner Syndrome |
|
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Elevated circulating he... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Elevated circulating he... |
ORPHA:99228 |
| Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Elevated circulating he... |
ORPHA:99226 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Abnormal circulating protein concentration, Hematochezia, Abnormal ci... |
ORPHA:103910 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Failure to thrive, Lymphopenia, ... |
OMIM:616395 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, High palate, Cardiomyopathy, Thoracolumbar scoliosis, Flexion co... |
OMIM:616549 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Anemia, Abnormal form of the vertebral bodies, Abnormality of the lymphatic syst... |
ORPHA:464329 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology |
ORPHA:103907 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... |
OMIM:263200 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Splenomeg... |
OMIM:616100 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Stomach cancer, Vaginal neoplasm, Hypothyroidism, Acute lymphoblastic leuke... |
ORPHA:1052 |
| Spondyloocular Syndrome |
|
Osteopenia, Duodenal ulcer, Femur fracture, Vertebral compression fracture, Decreased body weight... |
OMIM:605822 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, T lymphocytopenia, ... |
OMIM:606367 |
| Jacobsen Syndrome |
|
Annular pancreas, Hypospadias, Labial hypoplasia, Ventricular septal defect, Clitoral hypoplasia,... |
OMIM:147791 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon, Anemia, Aminoaciduria, Abnormal vertebral morphology |
ORPHA:99688 |
| Fg Syndrome Type 1 |
|
Atrial septal defect, Sacral dimple, Hypospadias, Gastroesophageal reflux, Small pituitary gland,... |
ORPHA:93932 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Hypospadias, Increased bone mineral density, Abnormal heart valve morphology, ... |
ORPHA:90652 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Enlarged kidney, Xanthelasma, Tubu... |
ORPHA:79259 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Arthrogryposis multi... |
ORPHA:163746 |
| Congenital Short Bowel Syndrome |
|
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... |
OMIM:615237 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Bifid uvula, Splenomegaly, Jaundice, H... |
OMIM:222470 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:620548 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Recurrent joint dislocation, Abnormal heart morphology, Malrotation of small bowe... |
ORPHA:2953 |
| Systemic Sclerosis |
|
Pericarditis, Dysphagia, Intestinal bleeding, Abnormal small intestine morphology, Myocarditis, A... |
ORPHA:90291 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... |
OMIM:619662 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Rectal prolapse, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Intestina... |
ORPHA:90038 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the adrenal glands, Hypospadias, Ventricular sept... |
ORPHA:139466 |
| Apert Syndrome |
|
Limited elbow movement, Bifid uvula, Craniosynostosis, Narrow palate, Cryptorchidism, Cleft palat... |
OMIM:101200 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Hypospadias, Gastroesophageal reflux, Scoliosis, Vesicoureteral reflux, High pa... |
OMIM:616975 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Cellulitis, Leukopenia, Hepato... |
OMIM:618986 |
| Frontometaphyseal Dysplasia 2 |
|
Delayed puberty, Fused cervical vertebrae, Gastroesophageal reflux, Dislocated radial head, Neuro... |
OMIM:617137 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Hypoplasia of penis, Cryptorchidism, Exocrine pancreatic insufficiency, Am... |
ORPHA:452 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Abnormal pancreas mo... |
ORPHA:48818 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... |
OMIM:619079 |
| Mednik Syndrome |
|
Cirrhosis, Increased circulating very long-chain fatty acid concentration, Cholestasis, Microcolo... |
OMIM:609313 |
| Trisomy 8P |
|
Annular pancreas, Sacral dimple, Multiple joint contractures, Hernia, Abnormal left ventricle mor... |
ORPHA:264450 |
| Robinow Syndrome |
|
Kyphoscoliosis, Hypoplastic labia majora, Pulmonic stenosis, Abnormal heart morphology, Fused tho... |
ORPHA:97360 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Gastroesophageal reflux, Inguinal hernia, Abnormal adipose tissu... |
ORPHA:2092 |
| 1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology... |
ORPHA:1606 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer, Hyperpepsinogenemia I, Hypergastrinemia |
OMIM:126840 |
| Whim Syndrome |
|
Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Cervix cancer, Cellulitis, Tetralogy of... |
ORPHA:51636 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Absent external genitalia, Hypoplasia of the fallopian tube, Ana... |
OMIM:273395 |
| Hypercholanemia, Familial 1 |
|
Rickets, Steatorrhea, Increased serum bile acid concentration, Failure to thrive, Fat malabsorption |
OMIM:607748 |
| Multiple Synostoses Syndrome 2 |
|
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... |
OMIM:610017 |
| Charge Syndrome |
|
Delayed puberty, Tracheoesophageal fistula, Pulmonic stenosis, Dysphagia, Lymphopenia, Umbilical ... |
OMIM:214800 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... |
ORPHA:3202 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Ankle flexion contracture, Severe failure to thrive, Unilateral renal agenesis, Hypospadias, Mult... |
ORPHA:468631 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c... |
OMIM:167800 |
| Stormorken Syndrome |
|
Hematuria, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asple... |
OMIM:185070 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Delayed puberty, Decreased HDL cholesterol concentration, Delayed skeletal maturation, Decreased ... |
OMIM:616834 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Scoliosis, Cleft palate, Short neck, ... |
OMIM:118100 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Abnormal circulating eicosanoid concentration, Iron deficiency anemia, Decreased ... |
OMIM:618372 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Ventricular septal defect, Umbilic... |
OMIM:618846 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Abnormal intestine ... |
ORPHA:391487 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Polycystic kidney dysplasia, Pancreatic fibrosis, Ventricular septal defect... |
OMIM:263520 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Cholestasis, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 ratio, Jaund... |
OMIM:619573 |
| Bresek Syndrome |
|
Aganglionic megacolon, Scoliosis, Vesicoureteral reflux, Hemivertebrae, Decreased testicular size... |
ORPHA:85284 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Hypocalcemia, Thyroiditis, Abnormal pitui... |
ORPHA:64744 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Intestinal malrotation, Colonic diverticula... |
OMIM:243180 |
| Aicardi Syndrome |
|
Delayed puberty, Butterfly vertebrae, Intestinal polyposis, Gastroesophageal reflux, Scoliosis, P... |
ORPHA:50 |
| Cat Eye Syndrome |
|
Rectal fistula, Anal stenosis, Tricuspid atresia, Biliary atresia, Meckel diverticulum, Vesicoure... |
OMIM:115470 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, P... |
OMIM:618183 |
| Alveolar Echinococcosis |
|
Abnormal adrenal morphology, Decreased liver function, Liver abscess, Anemia, Abnormal vertebral ... |
ORPHA:284 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Tarsal synostosis, Inguinal hernia, Scoliosis, Hyperlordosis, Vertebral ... |
OMIM:272460 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Colitis, Chronic hepatitis, Failure to thrive, Decreased circulating iro... |
OMIM:614602 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Hypoproteinemia, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
| Fanconi Anemia |
|
Reduced bone mineral density, Meckel diverticulum, Tracheoesophageal fistula, Leukopenia, Hypogon... |
ORPHA:84 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Gonadoblastoma, Vesicoureteral... |
OMIM:130650 |
| Visceral Myopathy 1 |
|
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ... |
OMIM:155310 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Hypospadias, Ovotestis, Cleft palate, Sex reversal, Ventricular ... |
OMIM:611812 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... |
OMIM:133100 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal hernia, Hypoplastic left atrium,... |
OMIM:601186 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transa... |
OMIM:214950 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu... |
ORPHA:1780 |
| Tangier Disease |
|
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or... |
ORPHA:31150 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp... |
ORPHA:449432 |
| American Trypanosomiasis |
|
Myocarditis, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ... |
ORPHA:3386 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Biliary cirrhosis, Splenomega... |
ORPHA:186 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp... |
ORPHA:2929 |
| Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia |
OMIM:200100 |
| Acro-Renal-Ocular Syndrome |
|
Aganglionic megacolon, Radial club hand, Vesicoureteral reflux, Vertebral segmentation defect, Te... |
ORPHA:959 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentrati... |
OMIM:269700 |
| Gardner Syndrome |
|
Gastrointestinal carcinoma, Neoplasm of the pancreas, Lipoma, Adrenocortical adenoma, Keloids, Pa... |
ORPHA:79665 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he... |
ORPHA:275761 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Narrow palate, Inguinal hernia, Pollakisuria, High palate, Camptodactyly, Shawl scrotum, Cryptorc... |
OMIM:227330 |
| Poems Syndrome |
|
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Diabetes mellitus, Abnormality of the endocr... |
ORPHA:2905 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelio... |
ORPHA:227990 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Jaundice, Hepatomegaly, Increased total iron binding capacity, Elevated circulating hepatic trans... |
ORPHA:309854 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia, Chorioretinal scar |
OMIM:277175 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Feingold Syndrome Type 1 |
|
Gastrointestinal atresia, Tricuspid atresia, Esophageal atresia, Vesicoureteral reflux, Tricuspid... |
ORPHA:391641 |
| Myhre Syndrome |
|
Enlarged vertebral pedicles, Limitation of joint mobility, Ventricular septal defect, Camptodacty... |
OMIM:139210 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia, Cholangitis, Colitis, Viral hepatitis, Biliary tract abnormality, Failure to thrive,... |
OMIM:209920 |
| Schinzel-Giedion Syndrome |
|
Kyphoscoliosis, Stiff elbow, Abnormal heart morphology, Dysphagia, Umbilical hernia, Aganglionic ... |
ORPHA:798 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... |
ORPHA:2064 |
| Meier-Gorlin Syndrome 7 |
|
Clitoral hypertrophy, Dislocated radial head, Joint hypermobility, Craniosynostosis, Hypospadias,... |
OMIM:617063 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Abnormal fallopian tube morphology, Nephrolithiasis, Cervicitis, Decreased level ... |
ORPHA:722 |
| Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Anal stenosis, Fused cervical vertebrae, Spina bifida occulta, Shoulder di... |
OMIM:607323 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas, Delayed pubic bone ossification, ... |
OMIM:618162 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of... |
ORPHA:227982 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... |
ORPHA:247598 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Anemia, Gastroesophageal reflux, Hypoplasia of penis, Cryptorchidism, Join... |
ORPHA:847 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Gastrointestinal atresia, Rectal abscess, Peritoneal abscess, Ventri... |
ORPHA:436252 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion |
OMIM:122600 |
| Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Aganglionic megacolon, Impaired lymphocyte transformation with phytohema... |
OMIM:250250 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Ovarian fibroma, Scoliosis, Hemivertebrae, Card... |
ORPHA:377 |
| Tarp Syndrome |
|
Atrial septal defect, Extramedullary hematopoiesis, Scoliosis, Glossoptosis, Cryptorchidism, Fail... |
ORPHA:2886 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... |
OMIM:600955 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Pericarditis, Hematochezia, Cellulitis, Osteolysis, Neu... |
ORPHA:73263 |
| Familial Adenomatous Polyposis |
|
Lipoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duodenal adeno... |
ORPHA:733 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126850 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Gastrointestinal carcinoma, Neoplasm of the pancreas, Duodenal polyposis, Lipoma, Adrenocortical ... |
ORPHA:247806 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Large for gestational age, Polycythemia, Aganglionic megacolon |
OMIM:600501 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
| Apert Syndrome |
|
Narrow palate, Ovarian neoplasm, Esophageal atresia, Ectopic anus, Vertebral segmentation defect,... |
ORPHA:87 |
| Meckel Syndrome |
|
Situs inversus totalis, Ureteral duplication, Accessory spleen, Pancreatic cysts, Furrowed tongue... |
ORPHA:564 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentrati... |
OMIM:608594 |
| Mckusick-Kaufman Syndrome |
|
Hydrometrocolpos, Aganglionic megacolon, Tarsal synostosis, Glandular hypospadias, Ectopic anus, ... |
ORPHA:2473 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Lipoma, Scoliosis, Hemivertebrae, Precocious puberty, Cleft palate, Block ve... |
OMIM:304050 |
| Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Aganglionic megacolon, Pheochromocytoma, Scoliosis, Elevated urinary epineph... |
OMIM:162300 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis... |
ORPHA:329971 |
| Familial Visceral Myopathy |
|
Abdominal situs inversus, Aganglionic megacolon, Hydroureter, Vesicoureteral reflux, Joint stiffn... |
ORPHA:2604 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cardiomyopathy, Widening of cervical spinal canal, Cervical v... |
OMIM:606842 |
| Cartilage-Hair Hypoplasia |
|
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Hyp... |
ORPHA:175 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Tracheoesophageal fistula, Urethral valve, Umbilical hernia, Hypospadias, Rectoper... |
OMIM:107480 |
| Pericardial And Diaphragmatic Defect |
|
Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal gastrointestinal tract morphology,... |
ORPHA:2847 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Omphalocele,... |
OMIM:236680 |
| Scedosporiosis |
|
Abnormal jejunum morphology, Pericarditis, Arthralgia/arthritis, Septic arthritis, Diabetes melli... |
ORPHA:449280 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
| Metachromatic Leukodystrophy |
|
Limb pain, Urinary incontinence, Neoplasm of the gallbladder, Hemobilia, Abnormal duodenum morpho... |
ORPHA:512 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Aganglionic megacolon, Anemia, Inguinal hernia, Lymphopenia, Abnorm... |
ORPHA:935 |
| Colonic Atresia |
|
Peptic ulcer, Omphalocele, Duodenal stenosis, Colonic atresia, Abnormal mesentery morphology, Abd... |
ORPHA:1198 |
| Multiple Endocrine Neoplasia Type 2 |
|
Kyphoscoliosis, Elevated urinary vanillylmandelic acid, Pheochromocytoma, Elevated urinary epinep... |
ORPHA:653 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Genu recurvatum, Limita... |
OMIM:151200 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... |
ORPHA:1826 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Nephritis, Nephrolithiasis, Decreased level of plasminogen |
OMIM:217090 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Liver abscess, Pancreatitis, Cholelithiasis, Cholangitis, Sclerosing ch... |
ORPHA:69663 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Scoliosis, Elevated circulating creatine kinase concentration, F... |
OMIM:619518 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis,... |
OMIM:619431 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Tarsal synostosis, Fused cervical vertebrae, Muscular ventricula... |
OMIM:157800 |
| Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... |
ORPHA:95428 |
| Familial Adenomatous Polyposis 4 |
|
Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Thyroid adenoma, Adenomatous colonic polyposis,... |
OMIM:617100 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Kyphoscoliosis, Annular pancreas, High palate, Osteoporosis, Congenital hip dislocation, Hypogona... |
OMIM:268400 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Vesicoureteral reflux, B... |
OMIM:611376 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, High palate, Female infertility, Amenorrhea, Increased circulati... |
OMIM:110100 |
| Alkaptonuria |
|
Limitation of knee mobility, Decreased glomerular filtration rate, Intervertebral disk degenerati... |
OMIM:203500 |
| Duane Retraction Syndrome |
|
Ectopic kidney, Anorectal anomaly, Abnormal form of the vertebral bodies, Spina bifida occulta, C... |
ORPHA:233 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Anorectal anomaly, Multiple suture craniosynostosis, Intestinal malr... |
ORPHA:567 |
| Bohring-Opitz Syndrome |
|
Annular pancreas, Severe failure to thrive, Fixed elbow flexion, Cholelithiasis, Joint dislocatio... |
ORPHA:97297 |
| Holoprosencephaly 13, X-Linked |
|
Butterfly vertebrae, Gastroesophageal reflux, Patent foramen ovale, Median cleft palate, Vertebra... |
OMIM:301043 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Aganglionic megacolon, Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell h... |
OMIM:171400 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea, Cachexia |
ORPHA:3217 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen... |
OMIM:620642 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Yellow Fever |
|
Hematemesis, Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Leuko... |
ORPHA:99829 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Hip dislocation, Perimembranous ventricular septal defect, Hypospadias, Pe... |
ORPHA:508498 |
| Diphallia |
|
Ureteral duplication, Bifid penis, Abnormal spermatogenesis, Bifid scrotum, Abnormal heart morpho... |
ORPHA:227 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Abnormal duodenum morphology, Mitral valve prolapse, Umbilical hernia, Jo... |
OMIM:601776 |
| Kbg Syndrome |
|
Epispadias, Thoracic kyphosis, Delayed skeletal maturation, Short neck, Vertebral arch anomaly, C... |
OMIM:148050 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Duodenal ulcer, Clitoral hypertrophy, Ectopic kidney, Dislocated... |
OMIM:135900 |
| Atelosteogenesis, Type I |
|
Fused cervical vertebrae, Thoracic platyspondyly, Vertebral hypoplasia, Cryptorchidism, Cleft pal... |
OMIM:108720 |
| Bardet-Biedl Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, E... |
ORPHA:110 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Erythrocytosis, Familial, 4 |
|
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... |
OMIM:611783 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... |
ORPHA:141127 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Duodenitis, Failure to thrive, Villous atrophy |
OMIM:614328 |
| Cystic Fibrosis |
|
Steatorrhea, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatomegaly, Male infertility, Hypercalci... |
OMIM:219700 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Abnormal la... |
ORPHA:251510 |
| Erythrocytosis, Familial, 5 |
|
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... |
OMIM:617907 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Thyroid carcinoma, Intestinal polyposis, Lipoma, Cachexia, Scoliosis, Neoplasm of ... |
ORPHA:109 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Scoliosis, High palate, Ventricular septal defect, Ankyloglossia, Unilater... |
OMIM:174300 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Scoliosis, Kyphosis, Osteoporosis, Ac... |
OMIM:617190 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased circulating hemoglobin concentration,... |
OMIM:263400 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Atrial septal defect, Multicystic kidney dysplasia, Inguinal hernia, Chol... |
OMIM:267010 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Early ossification of capital femoral epiphyses, Pancreatic cysts, Renal cyst, Bile duc... |
OMIM:208500 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Kyphoscoliosis, Annular pancreas, Congenital bilateral hip dislocation, Ankyloglossia, Hip contra... |
ORPHA:488642 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadeno... |
OMIM:193300 |
| Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar... |
ORPHA:220460 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Reduced bon... |
ORPHA:90796 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia, High palate, Desmoid tumors, Colon cancer, Intestinal bleeding, Adenomato... |
ORPHA:261584 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adrenocortical adenoma, Keloids, Papillary thyroid carcinoma, Small intestine... |
OMIM:175100 |
| Restrictive Dermopathy |
|
Osteopenia, Atrial septal defect, Ureteral duplication, Transposition of the great arteries, Hypo... |
ORPHA:1662 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly |
OMIM:617333 |
| Lamb-Shaffer Syndrome |
|
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae |
ORPHA:530983 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal vertebral morphology, Hip subluxa... |
ORPHA:444077 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament tissue, Ectopi... |
OMIM:135100 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Anuria, Microcolon, Peritonitis, Megacystis, Pyelonephritis |
OMIM:619351 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Enlarged kidney, Meckel diverticulum, Cardiomyopathy, Intestinal... |
OMIM:312870 |
| Tarp Syndrome |
|
Meckel diverticulum, High palate, Glossoptosis, Failure to thrive, Cleft palate, Hydronephrosis, ... |
OMIM:311900 |
| Ovarian Dysgenesis 3 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abnormal heart morphology, Hydronephrosis, Hydroureter, Microcolon |
OMIM:619362 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... |
ORPHA:730 |
| Down Syndrome |
|
Aganglionic megacolon, Atrioventricular canal defect, Partial anomalous pulmonary venous return, ... |
OMIM:190685 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Overweight, Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Maternal diabetes, Hypospadias, Meckel diverticulum, V... |
ORPHA:1708 |
| Menke-Hennekam Syndrome 2 |
|
Joint hypermobility, Duodenal ulcer |
OMIM:618333 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholestasis, Bifid uvula, Umbilical hernia, Craniosynostosis, Stage 5 chron... |
OMIM:266920 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Urinary incontinence, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scol... |
ORPHA:268882 |
| Iniencephaly |
|
Congenital diaphragmatic hernia, Hyperlordosis, Anal atresia, Omphalocele, Absent vertebra, Arthr... |
ORPHA:63259 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Genitopatellar Syndrome |
|
Clitoral hypertrophy, Dysphagia, Small scrotum, Malrotation of small bowel, Patellar dislocation,... |
OMIM:606170 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Acetabular spurs, Failure to thrive, Ambiguous genitalia, Pancreatic f... |
OMIM:615503 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Renal hypoplasia, Cleft palate, Abnormal he... |
OMIM:219000 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Inguinal hernia, Tracheobronchomalacia, Ventricular septal defect, Camptodactyly, ... |
OMIM:613458 |
| Nephronophthisis 13 |
|
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Renal hypoplasia, Glob... |
OMIM:614377 |
| Elsahy-Waters Syndrome |
|
Anal stenosis, Penoscrotal hypospadias, Hypospadias, Cervical C2/C3 vertebral fusion, High palate... |
OMIM:211380 |
| Wildervanck Syndrome |
|
Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Generalized Arterial Calcification Of Infancy |
|
Stippled calcification of the elbow, Myocardial calcification, Hypophosphatemic rickets, Fused ce... |
ORPHA:51608 |
| Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Weigh... |
ORPHA:103918 |
| Microvillus Inclusion Disease |
|
Abnormal small intestinal villus morphology, Nephrocalcinosis, Abnormal renal physiology, Villous... |
ORPHA:2290 |
| Von Hippel-Lindau Disease |
|
Limb pain, Myocarditis, Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreati... |
ORPHA:892 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Multiple bladder diverticula, Inguinal hernia, Joint subluxation, Vesicoureteral reflux, Urethral... |
ORPHA:90349 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Mckusick-Kaufman Syndrome |
|
Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis... |
OMIM:236700 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
| Plague |
|
Hematemesis, Hepatomegaly, Abnormality of the elbow, Glossitis, Arthritis, Lymphadenitis, Inflamm... |
ORPHA:707 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Intrahepatic bile duct dilatation, Global glomerulosclerosis, Hepatic cysts, St... |
OMIM:616307 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Premature ovarian insufficiency, Lacrimal gland aplasia, Hypoplasia of the uterus, Decreased circ... |
ORPHA:572333 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, High palate, Tongue nodules, Ankyloglossia, Enamel hypoplasia, Cleft... |
OMIM:311200 |
| Sotos Syndrome |
|
Ureteral duplication, Kyphosis, Accelerated skeletal maturation, Prolonged neonatal jaundice, Abn... |
ORPHA:821 |
| Orofaciodigital Syndrome Type 1 |
|
Reduced bone mineral density, Tarsal synostosis, Elevated circulating hepatic transaminase concen... |
ORPHA:2750 |
| Viss Syndrome |
|
Recurrent joint dislocation, Coronary sinus enlargement, Kyphosis, Intestinal malrotation, Malpos... |
OMIM:619472 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Unilateral renal agenesis, Inguinal hernia, Genu recurvatum, Scoliosis, Delayed crani... |
ORPHA:90348 |
| Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Lacrimal gland hypoplasia, Hypogonadism, Cryptorchidism |
OMIM:613266 |
| Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
| Holt-Oram Syndrome |
|
Cervical C2/C3 vertebral fusion, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ve... |
OMIM:142900 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Chronic pancreatitis, Stage 5 chronic kidney disease, Pancreatic cysts, Renal c... |
OMIM:613159 |
| Craniofacial Microsomia 1 |
|
Genu valgum, Ectopic kidney, Scoliosis, Vesicoureteral reflux, Hemivertebrae, Vertebral hypoplasi... |
OMIM:164210 |
