| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
| Pancreatic Agenesis 2 |
|
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... |
OMIM:615935 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
| Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnorma... |
ORPHA:1666 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... |
OMIM:615710 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Hypocholester... |
OMIM:610539 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Joint stiffness, Secun... |
OMIM:609069 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, Colitis, B lymphocy... |
OMIM:619281 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f... |
OMIM:610199 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi... |
ORPHA:93111 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Redu... |
ORPHA:556955 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
| Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Pancreatic aplasia, Pancre... |
OMIM:260370 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, ... |
OMIM:243150 |
| Dietary Iron Overload Disease |
|
Hepatic fibrosis, Elevated hepatic iron concentration, Hepatic steatosis, Hepatomegaly, Micronodu... |
ORPHA:139507 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, He... |
OMIM:612541 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Thrombocytopenia, Cleft palate, Hydrocele testis, Increased serum testosterone l... |
ORPHA:96181 |
| 17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellit... |
ORPHA:261265 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Villous atrophy, Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, ... |
OMIM:212065 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Congenital hip dislocation, Foot joint contracture, Diabetes mel... |
ORPHA:456312 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc... |
OMIM:618500 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Osteoporosis, Increase... |
OMIM:615830 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Aca... |
ORPHA:71 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Lymphopenia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblast... |
ORPHA:486 |
| Chylomicron Retention Disease |
|
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL chole... |
OMIM:246700 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... |
OMIM:619991 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Malabsorpti... |
ORPHA:398063 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
| Mirage Syndrome |
|
Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Achalasia, Hyponatremia, H... |
OMIM:617053 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypoch... |
OMIM:266510 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, High, narrow palate, Cryptorc... |
ORPHA:2849 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Short neck, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine conce... |
OMIM:608104 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Abnormal form of the vertebral bodies, Annular pan... |
ORPHA:1305 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... |
OMIM:600001 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro... |
ORPHA:14 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... |
ORPHA:96180 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Nephrolithiasis, Abnorma... |
ORPHA:369929 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... |
ORPHA:251274 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for ges... |
OMIM:601820 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
| Alg6-Cdg |
|
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... |
ORPHA:79320 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Congenital mal... |
ORPHA:2332 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at... |
OMIM:617784 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Reduced progressive sperm motility... |
OMIM:619608 |
| Alg12-Cdg |
|
Gastroesophageal reflux, Hypoalbuminemia, Abnormal bone ossification, Hypocholesterolemia, Microp... |
ORPHA:79324 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Delayed ske... |
OMIM:618440 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin co... |
ORPHA:90363 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Cleft palate, Ectopic anus, Ab... |
ORPHA:2345 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Biliary hyperplasia, ... |
ORPHA:83617 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... |
OMIM:606612 |
| Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Avascular necro... |
ORPHA:96253 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Vertebral fusion, Bicuspid aortic valve, Hypospadias, Abnormal dental ename... |
ORPHA:96169 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... |
ORPHA:543 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
| Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Sacral dimple, Decreased response to growth hormone stimulation test, Cryptorc... |
OMIM:603467 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Oral-pharyngeal dysphagia, Hypothyroidism, High palate, Gastroesophage... |
OMIM:610883 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concent... |
OMIM:616050 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... |
OMIM:557000 |
| Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hype... |
OMIM:232220 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal tricuspid valve morphology, Anemia, Duode... |
ORPHA:3405 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, ... |
OMIM:200995 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... |
ORPHA:75234 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
| Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Hypergonadotropic hypogonadism, Aplastic anemia, Short neck, Esophagea... |
OMIM:300514 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemi... |
OMIM:615863 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, C... |
OMIM:235255 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... |
ORPHA:2070 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Short neck, Cryptorchidism, Pancreatic ... |
ORPHA:1655 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short neck, Cryptorchidism, Cleft pala... |
ORPHA:915 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Kyphosis, Limitation of joint mob... |
ORPHA:79327 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Renal cyst, Proximal tubulopathy, Protein-losin... |
OMIM:602579 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Intestinal malrotation, Camptodactyly of finger, Joint stiffness, Flex... |
ORPHA:115 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Fe... |
ORPHA:244 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... |
OMIM:300604 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Maternal diabetes, Ectopic kidney, Joint stiffness, Cr... |
ORPHA:3027 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Short ... |
OMIM:229850 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... |
ORPHA:79303 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... |
ORPHA:264580 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Elevated circulating creati... |
OMIM:137920 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Vesicoureteral reflux, Atrial septal defect, Vertebral fusion... |
OMIM:610443 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Iron deficiency anemia, High palate, Abnormal bone ossi... |
ORPHA:93315 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Ventricular septal defect, Small for gestational age, Short neck,... |
OMIM:615583 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing ... |
ORPHA:79319 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Genu varum, Steatorrhea, High palate, Hyperechogeni... |
OMIM:617941 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Hypospadias, Failure to thrive in infancy, Increased circulating farnesol ... |
OMIM:618156 |
| Atelosteogenesis Type I |
|
Joint dislocation, Malrotation of colon, Abnormal ossification involving the femoral head and nec... |
ORPHA:1190 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Accelerated skeletal maturation, Increased circul... |
OMIM:202010 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Genital ulcers, Colitis, Ileal ulcer, Polyarticular arthritis, Lymphopenia, Thr... |
OMIM:616744 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... |
OMIM:270400 |
| Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospa... |
ORPHA:2059 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora... |
ORPHA:1436 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... |
OMIM:618000 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic... |
OMIM:130720 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Dextro... |
OMIM:613686 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... |
OMIM:178110 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Diaphanospondylodysostosis |
|
Short neck, Cleft palate, Multiple renal cysts, Absent or minimally ossified vertebral bodies, Ab... |
ORPHA:66637 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Increased mean c... |
ORPHA:90041 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Abnormal heart morphology, Azoospermia, Infertility, Scoliosis, Thoraci... |
ORPHA:1445 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atres... |
OMIM:618845 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinu... |
OMIM:607155 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, A... |
ORPHA:116 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria, Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sagittal craniosynostosis... |
ORPHA:79500 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c... |
ORPHA:210548 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Cleft palate, Vesicoureteral reflux, Abnormal... |
OMIM:244600 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia,... |
OMIM:304790 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... |
ORPHA:373 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Jacobsen Syndrome |
|
Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation,... |
ORPHA:2308 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... |
OMIM:614162 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... |
OMIM:617798 |
| Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis, High, narrow palate, Long penis, Lumbar hemivertebrae, Metopic syn... |
OMIM:190440 |
| 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 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia |
ORPHA:89844 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati... |
OMIM:612852 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Func... |
ORPHA:90362 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... |
OMIM:113000 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ambiguous genitalia, Multicystic kidney dysplasia, Hypospadias, Small for gestatio... |
OMIM:257300 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Hypothyroidism, Hepatomegaly, Acholic stools, Decreased liver func... |
ORPHA:30391 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Recur... |
OMIM:619377 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ambiguous genitalia, Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadis... |
OMIM:617159 |
| Distal Deletion 12Q |
|
Ectopic kidney, Short neck, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropen... |
ORPHA:96149 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Bilateral cleft palate, Sacral dimple, Prominent metopic ridge, Ventricular se... |
OMIM:605039 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atresia |
OMIM:309620 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Gorlin Syndrome |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Vertebral wedging... |
ORPHA:377 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorc... |
OMIM:227646 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-... |
OMIM:175500 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive |
OMIM:613217 |
| Congenital Generalized Lipodystrophy |
|
Accelerated skeletal maturation, Adipose tissue loss, Hepatic steatosis, Hepatomegaly, Bone cyst,... |
ORPHA:528 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Decreased skull ossifi... |
OMIM:602361 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Atrial septal defect, Atrioventricular canal defect,... |
OMIM:274000 |
| Microform Holoprosencephaly |
|
Hypoplasia of penis, Maternal diabetes, Hypothyroidism, Cleft palate, Scoliosis, Ambiguous genita... |
ORPHA:280200 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Prominent metopic ridge, Neonatal insulin-dependent diabetes mellit... |
ORPHA:99885 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Protein-losing enteropathy, Hypoalbuminemia, Vesicoureteral refl... |
OMIM:235510 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, A... |
ORPHA:79076 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Cleft palate, Ab... |
ORPHA:90650 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Atrial septal defect, Accessory s... |
OMIM:194190 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Hypertrophic cardiomyopathy |
OMIM:618810 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypo... |
OMIM:206900 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Ab... |
ORPHA:93941 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Joint hypermob... |
OMIM:617052 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Abno... |
ORPHA:1318 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... |
ORPHA:2916 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft pala... |
OMIM:243605 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchid... |
ORPHA:452 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... |
OMIM:616263 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Hyp... |
OMIM:609053 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Duodenal stenosis, A... |
ORPHA:1759 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... |
ORPHA:2522 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Male infertility, Hypergonadotropic ... |
ORPHA:91 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
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 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Failure to thrive, Sacral dimple, Cryptorchidism, Cleft palate, Abn... |
OMIM:247200 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect, Submucous clef... |
OMIM:619227 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral ... |
ORPHA:464311 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Ovoid vertebral bo... |
OMIM:244450 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adrenocortical carcinom... |
ORPHA:79665 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Kyphoscoliosis, Hamartomatous stomach polyps, Irregular ossifi... |
OMIM:109400 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
| Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
| Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
| Esophageal Atresia |
|
Maternal diabetes, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, Abno... |
ORPHA:1199 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Inguinal hernia, Vertebral fusion, Sacral dimple, Decrea... |
OMIM:213980 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervica... |
OMIM:214300 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Craniosynostosi... |
OMIM:614114 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... |
OMIM:270100 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Multiple joint contractures, Ventricular septal defect, Anterior pituitary hyp... |
ORPHA:464306 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Short neck, Hemive... |
OMIM:271520 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... |
OMIM:614172 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Tracheomalacia, Elb... |
OMIM:150250 |
| Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607748 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Cleft palate, Horseshoe kidney, Fused cervica... |
ORPHA:3320 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, High ... |
OMIM:305620 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Short neck, Pyloric stenosis, Cryptorchidism, Flexion con... |
OMIM:147791 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Cryptorchidism, Kyphosis, Dysplastic tricuspid valve... |
ORPHA:1724 |
| Chops Syndrome |
|
Ventricular septal defect, Tracheomalacia, High, narrow palate, Cryptorchidism, Splenomegaly, Obe... |
OMIM:616368 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
| Dubowitz Syndrome |
|
Inguinal hernia, Sacral dimple, Hypospadias, Aplastic anemia, Cryptorchidism, Velopharyngeal insu... |
OMIM:223370 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Gastrointesti... |
ORPHA:99413 |
| Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Gastrointesti... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Gastrointesti... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Gastrointesti... |
ORPHA:99226 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Omphalocele, Multicystic kidney dysplasia, Hydroureter... |
ORPHA:2241 |
| Kaposiform Lymphangiomatosis |
|
Abnormal thoracic spine morphology, Abnormal sacrum morphology, Metrorrhagia, Pericardial effusio... |
ORPHA:464329 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overwe... |
OMIM:617796 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
| Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Hiatus hernia, Malabsorption, Precocious puberty, Cleft pa... |
ORPHA:50 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyp... |
ORPHA:247806 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropen... |
OMIM:614700 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Cryptorchidism, Renal cyst, Furrowe... |
OMIM:616975 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Ambiguous genitalia, Multicystic kidney dysplasia, Vaginal neoplasm, Osteol... |
ORPHA:1052 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... |
ORPHA:103910 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... |
OMIM:167800 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Arthrogryposis multiplex ... |
ORPHA:163746 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Hypothyroidism, Goiter |
OMIM:617577 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... |
ORPHA:733 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Inguinal hernia, Sacral dimple, Hypospadias, Progressive ... |
ORPHA:93932 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Thoracic hemivertebrae, Micrope... |
OMIM:268310 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, High palate, Cervical C... |
OMIM:616549 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Incre... |
OMIM:222470 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Hypothyroid... |
ORPHA:79259 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Carpal synostosis, Increased bone mineral density, Hypospadias, Abnormal heart valve... |
ORPHA:90652 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Bilateral cryptorchidism, Pyloric stenosis, Neutropenia, Meckel d... |
OMIM:616395 |
| Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... |
ORPHA:90291 |
| Trisomy 8P |
|
Sacral dimple, Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Cry... |
ORPHA:264450 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Prominent metopic ridge, Adrenocorti... |
OMIM:130650 |
| Mednik Syndrome |
|
Jejunal atresia, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid ... |
OMIM:609313 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Per... |
ORPHA:90038 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Cervical kyphosis, Generalized joint laxity, Functional abnormality of the bladder, High palate, ... |
ORPHA:2953 |
| Abetalipoproteinemia |
|
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... |
OMIM:273395 |
| Dermotrichic Syndrome |
|
Aminoaciduria, Aganglionic megacolon, Abnormal vertebral morphology, Anemia |
ORPHA:99688 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... |
OMIM:618986 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Congenital diaphragmatic herni... |
ORPHA:139466 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Acute hepatic failure, Inguinal hernia, Multicystic kidney dysplasia, Ventricular se... |
ORPHA:2092 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Panc... |
OMIM:263520 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Bifid uvula, Synostosis of carpal bones,... |
OMIM:101200 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Patent for... |
ORPHA:391487 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Lymphadenitis, Neutropenia, Abnormal neutrophil... |
ORPHA:51636 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Bicuspid aortic valve, Elbow con... |
OMIM:617137 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Pulmonary valve atresia, Hemivertebrae, Clitoral hypo... |
ORPHA:97360 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri... |
OMIM:214800 |
| Spondyloocular Syndrome |
|
Osteopenia, Duodenal ulcer, Unilateral cryptorchidism, Mitral valve prolapse, Platyspondyly, Decr... |
OMIM:605822 |
| Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Abnormal pericardium morphology, Cholangitis, Portal hypertension, ... |
ORPHA:284 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... |
ORPHA:31150 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyr... |
ORPHA:449432 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, ... |
OMIM:118100 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Chronic hepatitis... |
OMIM:614602 |
| Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Delayed skeletal maturation, Decreased LDL cholesterol c... |
OMIM:616834 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Reduced bone ... |
ORPHA:935 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Anal stenosis, Macrocyt... |
OMIM:250250 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hyperpepsinogenemia I, Duodenal ulcer, Hypergastrinemia |
OMIM:126840 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Prominent metopic ridge, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle... |
ORPHA:468631 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... |
OMIM:209920 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Ovotestis, Cleft palate,... |
OMIM:611812 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria... |
OMIM:619573 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis,... |
OMIM:272460 |
| Diets-Jongmans Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cryptor... |
OMIM:618846 |
| Vascular Hyalinosis |
|
Hematochezia, Chorioretinal scar, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Accelerated skeletal maturation, Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepa... |
OMIM:269700 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... |
OMIM:617100 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypo... |
OMIM:601186 |
| Fanconi Anemia |
|
Reduced bone mineral density, Leukopenia, Abnormality of the liver, High palate, Abnormality of t... |
ORPHA:84 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoeso... |
ORPHA:1780 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Cardiomyopathy, ... |
ORPHA:3386 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Elbow contracture, De... |
OMIM:618162 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... |
OMIM:618372 |
| Bresek Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Hemivertebrae, Renal hypoplasia, Cleft palate, Scoliosis, ... |
ORPHA:85284 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Aganglionic megacolon, Radial club hand, Horseshoe kidney, Bladder diverticulum... |
ORPHA:959 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... |
ORPHA:227990 |
| Schinzel-Giedion Syndrome |
|
Short neck, Renal cyst, Anteriorly placed anus, High palate, Hepatoblastoma, Myeloid leukemia, Mi... |
ORPHA:798 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Elevated circ... |
OMIM:618183 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Megacystis, Hydronephrosis, U... |
OMIM:155310 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... |
ORPHA:275761 |
| Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased propo... |
OMIM:619510 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nep... |
ORPHA:227982 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, Hypocalcemia,... |
ORPHA:175 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian t... |
ORPHA:722 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jeju... |
ORPHA:436252 |
| Feingold Syndrome Type 1 |
|
Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal at... |
ORPHA:391641 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anteriorly placed anus, Vertebral segmentation defect, High palate, Vesicoure... |
OMIM:617063 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Duane-Radial Ray Syndrome |
|
Anal stenosis, Aganglionic megacolon, Ventricular septal defect, Vesicoureteral reflux, Renal hyp... |
OMIM:607323 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Cryptorchidism, Hyperextensible hand joints, Narrow palate, Po... |
OMIM:227330 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... |
OMIM:600955 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
| Yellow Fever |
|
Low back pain, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kin... |
ORPHA:99829 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Tarp Syndrome |
|
Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Tongue nodules, Ho... |
ORPHA:2886 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Accelerated skeletal maturation, Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Umbilical herni... |
OMIM:608594 |
| Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Small for gestational age, Short neck, Pericardial e... |
OMIM:139210 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Joint stiff... |
ORPHA:847 |
| Zygomycosis |
|
Fasciitis, Unusual gastrointestinal infection, Colitis, Neutropenia, Nephritis, Brain abscess, Me... |
ORPHA:73263 |
| Aicardi Syndrome |
|
Block vertebrae, Hiatus hernia, Precocious puberty, Hemivertebrae, Cleft palate, Lipoma, Scoliosi... |
OMIM:304050 |
| Apert Syndrome |
|
Esophageal atresia, Cervical C5/C6 vertebrae fusion, Cleft palate, Narrow palate, Ovarian neoplas... |
ORPHA:87 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Joint laxity, Aganglionic megacolon, Failure to thrive in infancy, Hyperlord... |
OMIM:162300 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atr... |
OMIM:236680 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
| Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... |
ORPHA:512 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126850 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Diabetes mellitu... |
ORPHA:69663 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Joint stiffness... |
ORPHA:2604 |
| Abcd Syndrome |
|
Large for gestational age, Aganglionic megacolon, Polycythemia, Total intestinal aganglionosis |
OMIM:600501 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u... |
ORPHA:653 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyposis, Multiple gastric pol... |
OMIM:175100 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal defect, Hypothyroidi... |
OMIM:107480 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Colonic Atresia |
|
Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve... |
ORPHA:1198 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
| Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Diabetes mellitus, Endocarditis, Septic arthri... |
ORPHA:449280 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Short neck, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency an... |
ORPHA:261584 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Spina bifida occulta, Wrist flexion contracture, Bifid uvula, Dislocated ... |
ORPHA:1826 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... |
OMIM:619431 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Cardiomegaly, Limitatio... |
ORPHA:97297 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Pericardial eff... |
ORPHA:2905 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Osteoporos... |
OMIM:268400 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Congenital diaphra... |
OMIM:157800 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Decreased level of plasminogen, Duodenal ulcer, Nephrolithiasis |
OMIM:217090 |
| Duane Retraction Syndrome |
|
Ectopic kidney, Short neck, Anorectal anomaly, Cleft palate, Abnormal form of the vertebral bodie... |
ORPHA:233 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Failure to thrive, Ventricular septal defect, A... |
ORPHA:2473 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
| Cog8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... |
OMIM:203500 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Perimembrano... |
OMIM:611376 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Anorectal anomaly, Gastroesophageal reflux, Abnormality of the uterus, Hypoplasia of ... |
ORPHA:567 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Thoracic kyphosi... |
ORPHA:508498 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Submucous cleft hard palate, Vertebral clefting, Cleft palate, Hypopla... |
OMIM:301043 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, High palate, Atrial septal defect, Spina bifida ... |
OMIM:135900 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... |
ORPHA:141127 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Kyphoscoliosis, Cleft palate, Knee flexion contracture, Congenital... |
ORPHA:488642 |
| Meckel Syndrome, Type 7 |
|
Inguinal hernia, Multicystic kidney dysplasia, Portal hypertension, Situs inversus totalis, Pancr... |
OMIM:267010 |
| Kbg Syndrome |
|
Vertebral fusion, Short neck, Epispadias, Cryptorchidism, Delayed skeletal maturation, Vertebral ... |
OMIM:148050 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Conjugated hyper... |
OMIM:208500 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hepatic hema... |
OMIM:193300 |
| Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Cryptorchidism, Elbow dislocation, Cleft palate, Knee disloca... |
OMIM:108720 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, High palate, Atrial septal defect, Joint laxity, Sca... |
OMIM:601776 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Cachex... |
ORPHA:109 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, At... |
OMIM:617190 |
| Erythrocytosis, Familial, 2 |
|
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele... |
OMIM:263400 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Thoracic kyphoscoliosis, Multiple joint contractures, Hypospadi... |
ORPHA:1662 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal s... |
ORPHA:3109 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Microcolon |
OMIM:619351 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Acetabular spurs, Ambiguous genitalia, Failure to... |
OMIM:615503 |
| Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Atrial sep... |
OMIM:243800 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Renal cyst, Vertebral segmentat... |
OMIM:312870 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Asymme... |
OMIM:171480 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Ventricular septal defect, Decreased response to growth hormone stimulation test, ... |
ORPHA:444077 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Cholangitis, Short neck, Renal cyst, High palate, Hepatic fibro... |
OMIM:266920 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di... |
ORPHA:730 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Tarp Syndrome |
|
Meckel diverticulum, Failure to thrive, Cleft palate, Tongue nodules, Horseshoe kidney, Glossopto... |
OMIM:311900 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney d... |
OMIM:614377 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Overweight, Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Down Syndrome |
|
Joint laxity, Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrio... |
OMIM:190685 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Ventricular septal defect, Hypospadias, Small for gest... |
ORPHA:1708 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer, Joint hypermobility |
OMIM:618333 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Iniencephaly |
|
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... |
ORPHA:63259 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Urinary incontinence, Fused cervical vertebrae, Scoliosis, Dysphagia, Cervical C2/C3 ... |
ORPHA:268882 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Renal hypoplasia, Cleft palate,... |
OMIM:219000 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Failure to thrive in infancy... |
ORPHA:51608 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Back pain, Elevated urinary catecholamine level, Pancreatic islet cell ... |
ORPHA:892 |
| Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Knee flexion contracture, Anteriorly placed anus, Atri... |
OMIM:606170 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Inguinal hernia, Sacral dimple, Ventricular septal defect, Short neck, Cryptorchidism, Hip disloc... |
OMIM:613458 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... |
ORPHA:2290 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Elsahy-Waters Syndrome |
|
Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High... |
OMIM:211380 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Megacystis, Microcolon |
OMIM:619362 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Nephr... |
OMIM:616307 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Cryptorchidism, Transverse vagina... |
OMIM:236700 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Pyloric stenosis, Dilatation of the ventricular cavity, Hip disloc... |
ORPHA:90349 |
| Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ab... |
ORPHA:2750 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart morphology, Tong... |
OMIM:311200 |
| Sotos Syndrome |
|
Ureteral duplication, Accelerated skeletal maturation, Flexion contracture, Gastroesophageal refl... |
ORPHA:821 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Inguinal hernia, Wormian bones, Genu recurvatum, Unilateral renal agene... |
ORPHA:90348 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Generalized joint laxity, Right ventricular dilatation, H... |
OMIM:619472 |
| Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
| Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary cy... |
OMIM:613159 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Ventricular septal defect, Block vertebrae, Ectopic kidney, Hemiver... |
OMIM:164210 |
