Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Familial Adenomatous Polyposis 4 |
|
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer |
OMIM:617100 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... |
OMIM:232700 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma, Neoplasm of the gastrointestinal tract |
OMIM:606864 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... |
ORPHA:209964 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Hyperplastic colonic po... |
ORPHA:157794 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Trichoepitheliomas, Multiple Desmoplastic |
|
Trichoepithelioma, Neoplasm of the skin |
OMIM:190345 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Vomiting, Rectal prolaps... |
ORPHA:2869 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... |
OMIM:619101 |
Gist-Plus Syndrome |
|
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor |
OMIM:175510 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... |
OMIM:158320 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Gastrointestina... |
ORPHA:44890 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcinoma, Diarrhea, Hema... |
OMIM:174900 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Intestinal bleeding, Anal canal squamou... |
ORPHA:424019 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Multipl... |
ORPHA:220460 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Cowden Syndrome 4 |
|
Trichilemmoma, Breast carcinoma, Hamartoma, Renal neoplasm |
OMIM:615107 |
Lymphoproliferative Syndrome 3 |
|
Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Lymphadenopathy, Reduced natu... |
OMIM:618261 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endome... |
OMIM:613244 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Melena, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Oslam Syndrome |
|
Osteosarcoma, Neoplasm |
OMIM:165660 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Immunodeficiency 105 |
|
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence o... |
OMIM:619924 |
Hirschsprung Disease |
|
Constipation, Abdominal pain, Diarrhea, Intestinal obstruction, Intestinal polyposis, Nausea and ... |
ORPHA:388 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Post-partum hemorrhage, Anisocytos... |
ORPHA:98870 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Abnormal blee... |
ORPHA:329971 |
Desmoid Tumor |
|
Malabsorption, Abdominal pain, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polypo... |
ORPHA:873 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Cap Polyposis |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... |
OMIM:193250 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... |
OMIM:114500 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Intussusception, Hemangioma, Iron deficiency anemia, Rectal prolapse, Cerebe... |
OMIM:112200 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Absent nipple, Male urethral meatus stenosis, Hypoplastic areola, Hypoplastic nipples, Cryptorchi... |
OMIM:616001 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Anemia, Sideroblastic, 4 |
|
Refractory anemia with ringed sideroblasts, Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Ganglioneuroma |
|
Episodic abdominal pain, Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Ab... |
ORPHA:251992 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Neoplasm, Patchy alopecia, Stomach cancer, Splenomegaly, Alopecia, Sparse body hai... |
ORPHA:2930 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Protein-losing enteropathy, Prema... |
OMIM:277175 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Esophageal varix, H... |
ORPHA:75234 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Abnormal esophagus physiology, Dysphagia... |
ORPHA:2198 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... |
OMIM:619398 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transamina... |
OMIM:214900 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... |
ORPHA:263665 |
Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... |
OMIM:135150 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis |
ORPHA:98881 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... |
OMIM:137560 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... |
ORPHA:158057 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Premature Aging Syndrome, Okamoto Type |
|
Osteosarcoma, Neoplasm, Abnormal hair morphology |
OMIM:601811 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Neoplasm of the lu... |
ORPHA:2591 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Absent nipple, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the breasts, Hypoplastic ... |
OMIM:113700 |
Enterocolitis |
|
Abdominal distention, Hematochezia, Enterocolitis, Ulcerative colitis |
OMIM:226150 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
Burkitt Lymphoma |
|
Abdominal pain, Abnormality of the spleen, Intestinal obstruction, Neoplasm of the oral cavity, D... |
ORPHA:543 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... |
OMIM:619868 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Gastrointestinal Stromal Tumor |
|
Constipation, Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas, Dysphagia |
OMIM:606764 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... |
ORPHA:326 |
Carney-Stratakis Syndrome |
|
Abdominal pain, Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, ... |
ORPHA:97286 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Eosinophilia, Diarrhea, Abnormality of ... |
ORPHA:2070 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, Multiple gastri... |
OMIM:175200 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Hematochezia, Perianal abscess |
OMIM:613148 |
Ovarian Dysgenesis 2 |
|
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... |
OMIM:300510 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lympha... |
OMIM:619164 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Abdominal pain, Alopecia, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... |
OMIM:175500 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... |
ORPHA:853 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Neuroendocrine Neoplasm Of Appendix |
|
Bowel urgency, Ovarian neoplasm, Constipation, Episodic abdominal pain, Hypoactive bowel sounds, ... |
ORPHA:100079 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
Angioma, Hereditary Neurocutaneous |
|
Hemangioma, Gastrointestinal hemorrhage |
OMIM:106070 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Abdominal pain, Anal canal ad... |
ORPHA:424016 |
Neuroendocrine Tumor Of Stomach |
|
Melena, Bowel urgency, Hepatic failure, Facial telangiectasia, Poor appetite, Atypical pulmonary ... |
ORPHA:100075 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Prolonged bleeding af... |
OMIM:231200 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... |
ORPHA:261529 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... |
OMIM:306000 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Atypical pulmonary carcinoid tumor, Bowel urgency, Hepatomegaly, Constipation, Bloody dia... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Atypical pulmonary carcinoid tumor, Bowel urgency, Hepatomegaly, Constipation, Bloody dia... |
ORPHA:100082 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Bloody diarrhea, Lymphopenia, Intestinal atresia, Enterocolitis, Leukocytosis, ... |
OMIM:243150 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Constipation, Abdominal pain, Hypopigment... |
ORPHA:897 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Shor... |
OMIM:607616 |
Turcot Syndrome With Polyposis |
|
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... |
ORPHA:99818 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, B lymphocytopenia, Inflammation of the large intestine, T lymphocytopenia, Perianal ab... |
OMIM:618108 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Epidermodysplasia Verruciformis, X-Linked |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:305350 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Wide intermamillary distance, Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Gynecomastia, Primary amenorrhea, Adrenal hyperplasia, Ambiguous geni... |
OMIM:202110 |
Squamous Cell Carcinoma Of The Esophagus |
|
Feeding difficulties in infancy, Nausea and vomiting, Esophageal carcinoma |
ORPHA:99977 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Chromosome 5Q Deletion Syndrome |
|
Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia |
OMIM:153550 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Radiation Proctitis |
|
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... |
ORPHA:70475 |
+173470 integrin, beta-3 |
|
Neonatal alloimmune thrombocytopenia, Bruising susceptibility, Abnormal bleeding, Intracranial he... |
OMIM:173470 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Absent nipple, Sparse hair |
OMIM:129510 |
Schopf-Schulz-Passarge Syndrome |
|
Sparse hair, Onycholysis, Squamous cell carcinoma, Basal cell carcinoma, Poroma, Ridged nail, Apo... |
OMIM:224750 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... |
ORPHA:206484 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Small for gestational age... |
ORPHA:1916 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... |
ORPHA:70482 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Micrognathia, Aprosencephaly, Absent mesencephalon, Craniosynostosis |
OMIM:601374 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
High palate, Hypertriglyceridemia |
OMIM:618010 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Duodenal Neuroendocrine Tumor |
|
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Right ventricular failure, Pal... |
ORPHA:100076 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Primary amenor... |
OMIM:614837 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Atypical pulmonary carcinoid tumor, Bowel urgency, Bloody diarrhea, Tricuspid regurgitati... |
ORPHA:100080 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Abdominal distention, Abdominal pain, Neoplasm... |
ORPHA:83469 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... |
ORPHA:587 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Ovarian neopl... |
ORPHA:144 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma |
OMIM:142330 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Glanzmann Thrombasthenia |
|
Prolonged bleeding following circumcision, Bruising susceptibility, Menorrhagia, Prolonged bleedi... |
ORPHA:849 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Immunodeficiency 97 With Autoinflammation |
|
Colitis, Lymphopenia, Enterocolitis, Hemophagocytosis, Splenomegaly, Decreased proportion of CD8-... |
OMIM:619802 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... |
OMIM:612964 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... |
OMIM:619662 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Gynecomastia, Adrenogenital syndrome |
OMIM:201910 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Neoplasm, Abdominal distention, Abdominal pain, Peritonitis |
ORPHA:168811 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Budd-Chiari Syndrome |
|
Malabsorption, Abdominal pain, Splenomegaly, Acute hepatic failure, Peritonitis, Intestinal obstr... |
ORPHA:131 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Alopecia, Streak ovary |
OMIM:241090 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Ebola Hemorrhagic Fever |
|
Melena, Lymphopenia, Abdominal pain, Abnormal bleeding, Leukopenia, Diarrhea, Vomiting, Nausea, D... |
ORPHA:319218 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... |
ORPHA:352540 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... |
ORPHA:145 |
Immunodeficiency 104 |
|
Hepatomegaly, Gastroesophageal reflux, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the uterus,... |
OMIM:194072 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Bloody diarrhea, Vitreous hemorrhage, Hematemesis, Hyperbilirubinemia, Morphological abno... |
ORPHA:464321 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Prolonged bleeding time, Microcytic anemia, Gastrointestinal infarctions, Ca... |
ORPHA:1059 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent nipple, Absent hair, Sparse hair |
OMIM:614940 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Budd-Chiari syndrome, Abdominal pain, Diarrhea, Pulmonary embolism, Vomiting, Iron... |
OMIM:226300 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Limb-Mammary Syndrome |
|
Absent nipple, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Primary amenorrhea, Hypopla... |
ORPHA:69085 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Feeding difficulties in infancy... |
ORPHA:99976 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts, Leukemia, Acu... |
OMIM:133180 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Hemophagocytosis, Splenomega... |
OMIM:300635 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... |
ORPHA:1414 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Lymphadenopathy, Reduced natural killer... |
OMIM:609981 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... |
ORPHA:432 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Diarrhea, Hematochez... |
ORPHA:2929 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... |
OMIM:202010 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopenia, Reduced nat... |
OMIM:616050 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair... |
OMIM:614941 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Glanzmann Thrombasthenia 1 |
|
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... |
OMIM:273800 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Histiocytoma, Osteosarcoma, Fibrosarcoma, Premature graying of hair |
OMIM:112250 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Breast carcinoma, Decreased circulating ... |
ORPHA:90790 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... |
OMIM:613027 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Grfoma |
|
Cholelithiasis, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... |
ORPHA:97261 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent int... |
ORPHA:906 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia |
OMIM:238700 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Intussusception, Leukocytosis, Abdominal pain, Peritonitis, Retic... |
ORPHA:90038 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Thick e... |
ORPHA:247768 |
Ppoma |
|
Cholelithiasis, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... |
ORPHA:97278 |
Isolated Polycystic Liver Disease |
|
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... |
ORPHA:2924 |
Somatostatinoma |
|
Medullary thyroid carcinoma, Constipation, Steatorrhea, Adrenocortical adenoma, Neoplasm of the s... |
ORPHA:97283 |
Congenital Factor Xi Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... |
ORPHA:329 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Fair hair, Wide intermamillary distance, Sparse axillary hair, ... |
OMIM:103285 |
Blackfan-Diamond Anemia |
|
High palate, Malignant genitourinary tract tumor, Increased mean corpuscular volume, Neutropenia,... |
ORPHA:124 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Hepatomegaly, Jaundice, Abnormally low T cell... |
ORPHA:276 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Nipples, Supernumerary |
|
Supernumerary nipple |
OMIM:163700 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis, Hepatomegaly |
ORPHA:79085 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Malabsorption, Splenomegaly |
ORPHA:79301 |
Amed Syndrome, Digenic |
|
Failure to thrive, Hypoplasia of the uterus, Adrenal hypoplasia, Myelodysplasia, Acute myeloid le... |
OMIM:619151 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis |
ORPHA:209919 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Adrenocortical adenoma, Neuroendocrine neoplasm, Diarrhea,... |
ORPHA:913 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholestero... |
OMIM:615947 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Alopecia, Hypoplastic nipples, Breast hypoplasia, Fine hair |
ORPHA:978 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Satoyoshi Syndrome |
|
Amenorrhea, Alopecia universalis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypop... |
ORPHA:3130 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Diffuse leiomyomatosis, Hirsutism, Fibrosarcoma, Abnormal end... |
ORPHA:314478 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Leukocytosis, Abdominal pain, Diarrhea, Constrictive pericarditis... |
ORPHA:67 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
Hermansky-Pudlak Syndrome 1 |
|
Colitis, Bruising susceptibility, Abdominal pain, Hypopigmentation of hair, Inflammation of the l... |
OMIM:203300 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... |
OMIM:615300 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Verrucae, Lymphopenia, Neutropenia |
OMIM:614868 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Galactorrhea, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Fem... |
ORPHA:397685 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:232400 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Immunodeficiency 61 |
|
Malabsorption, Colon cancer, Frequent Giardia lamblia infestation |
OMIM:300310 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... |
OMIM:201810 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma |
OMIM:614350 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Neoplasm, Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hyp... |
OMIM:219080 |
Wiskott-Aldrich Syndrome |
|
Melena, Lymphoproliferative disorder, Diarrhea, Decreased mean platelet volume, Large vessel vasc... |
OMIM:301000 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic areola, Hypogonadism, Sparse hair, Hypoplastic nipples |
OMIM:273400 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Abdominal pain, Peritonitis, Diarrhea, Vasculitis, Intestinal obstruction, Purpura, Recurrent aph... |
ORPHA:343 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia, Reduced hematocrit, Anemia, Refract... |
OMIM:619523 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Absence of alpha granules, Bruising susceptibility, Abnormal bleeding, Prolonged bleed... |
OMIM:187900 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Hepatic failure, Subarachnoid hemorrhage, Abnormal cardiovascular sys... |
ORPHA:774 |
Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... |
ORPHA:169802 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Decreased liver function, Petechiae, Gastroesophageal reflux, Abdominal pain, Anemia, ... |
ORPHA:85450 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... |
ORPHA:314473 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin, Nail dystrophy, Small nail |
OMIM:181600 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Carney Triad |
|
Abdominal pain, Gastrointestinal stroma tumor, Adrenocortical adenoma, Anorexia, Pheochromocytoma... |
ORPHA:139411 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morpho... |
ORPHA:98850 |
Glucagonoma |
|
Constipation, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating prolactin conc... |
ORPHA:97280 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Retinal telangiectasia, Esophageal varix, Portal hypertension, Pancytopenia, Gastrointestinal hem... |
OMIM:617341 |
Barrett Esophagus |
|
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus |
OMIM:614266 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:1173 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Wild Type Abeta2M Amyloidosis |
|
Macroglossia, Arrhythmia, Dysphagia, Intestinal pseudo-obstruction, Gastrointestinal hemorrhage, ... |
ORPHA:85446 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... |
ORPHA:523 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hemangioma, Intestinal polyp, Protuberant abdomen, Cryptorchidism, Curly hair, Lactose intolerance |
ORPHA:457485 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort... |
OMIM:615830 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189439 |
Hemophilia A With Vascular Abnormality |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hem... |
OMIM:306800 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Abnormality of the endocrine system, Breast hypoplasia, Hypoplastic nipples |
OMIM:129550 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Barber-Say Syndrome |
|
Absent nipple, Inverted nipples, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse ey... |
OMIM:209885 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Malignant Atrophic Papulosis |
|
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Tyrosinemia, Type I |
|
Paralytic ileus, Melena, Hypophosphatemic rickets, Splenomegaly, Elevated alpha-fetoprotein, Hepa... |
OMIM:276700 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Neuroblas... |
ORPHA:440437 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Bicornuate uterus, Uterus didelphys, Unicornuate uterus, Abnormality of the breast |
OMIM:200980 |
Hemophilia B |
|
Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding, Persistent bleeding after trauma |
OMIM:306900 |
Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Acute hepatic failure, Hyperammonemia, Increa... |
ORPHA:71212 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphoma, Glioblastoma mult... |
OMIM:619097 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Palpitations, Tachycar... |
ORPHA:340 |
46,Xx Gonadal Dysgenesis |
|
Aplasia/Hypoplasia of the breasts, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the ut... |
ORPHA:243 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Malabsorption, Sparse hair, Brittle hair, Tiger tail banding, Trichorrhexis nodosa, T... |
OMIM:601675 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:435651 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Refractory Anemia |
|
Anemia of inadequate production, Single lineage myelodysplasia, Abnormal bleeding, Normocytic ane... |
ORPHA:98826 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... |
ORPHA:785 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic steatosis, Abnormal c... |
OMIM:615980 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abdominal pain, Splenomegaly, Alopecia, Lymphoma, Abnormality of the small intesti... |
ORPHA:100025 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Secondary Intestinal Lymphangiectasia |
|
Malabsorption, Intestinal bleeding, B-cell lymphoma, Lymphopenia, Intussusception, Vomiting, Lymp... |
ORPHA:90363 |
Oligodontia-Colorectal Cancer Syndrome |
|
Adenomatous colonic polyposis, Sparse scalp hair, Fundic gland polyposis, Absent eyebrow, Breast ... |
OMIM:608615 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Vil... |
OMIM:304790 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Werner Syndrome |
|
Osteosarcoma, Meningioma, Alopecia of scalp |
OMIM:277700 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary growth hormone cell adenoma, Thymoma, Melena, Constipation, Intestinal carcinoid, Diarr... |
ORPHA:652 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... |
ORPHA:3411 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Hematemesis, Leukocytosis, Hyperbilirubinemia, Hepatic failure, Abdom... |
ORPHA:480520 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Labial hypoplasia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distich... |
OMIM:211370 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... |
ORPHA:247585 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... |
ORPHA:296 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... |
ORPHA:96181 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Aplasia/Hypoplasia of the breasts, Hamartoma, Hypoplastic labia minora, Abn... |
ORPHA:64755 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas |
|
Osteochondroma |
OMIM:127820 |
Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Abdominal pain, Leukopenia, Diarrhea, Hy... |
ORPHA:99828 |
Choroidal Atrophy-Alopecia Syndrome |
|
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Fine hair, Ungual fibroma |
ORPHA:1433 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Mitral regurgitation, Juvenile gastrointestinal polyposis, Hematochezia, Anemia, ... |
OMIM:175050 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Mullerian Aplasia And Hyperandrogenism |
|
Amenorrhea, Abnormality of the endocrine system, Hirsutism, Aplasia/Hypoplasia of the fallopian t... |
OMIM:158330 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the colon, Hypopigmentation of hair, Abnormali... |
ORPHA:3440 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis |
OMIM:616176 |
Bernard-Soulier Syndrome |
|
Petechiae, Hematemesis, Bruising susceptibility, Prolonged bleeding after dental extraction, Abno... |
ORPHA:274 |
Acute Erythroid Leukemia |
|
Leukopenia, Erythroid hypoplasia, Pancytopenia, Anemia, Refractory anemia with ringed sideroblasts |
ORPHA:318 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Intestina... |
OMIM:600802 |
Porokeratosis |
|
Squamous cell carcinoma of the skin |
ORPHA:79358 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... |
OMIM:193400 |
Temple Syndrome |
|
High palate, Cleft palate, Bifid uvula, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Leukocytosis, Splenomegaly, Abdominal pain, Inflammation of the large intestine, Hematochezia, Di... |
OMIM:615895 |
Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
Tylosis With Esophageal Cancer |
|
Neoplasm, Esophageal carcinoma |
OMIM:148500 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Breast carcinoma, Renal cortical adenoma, Papillary thyroid carcinoma, Papillary renal cell carci... |
ORPHA:97290 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Thin eyebrow, Cryptorchidism, Supernumerary nipple, Small for gestational age |
OMIM:617635 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Macroglossia, T lymphocytopenia, Protruding tongue, Reduced natural killer cell count |
OMIM:242860 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:255120 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... |
ORPHA:618 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo... |
OMIM:300853 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hepatic failure, Hemothorax, Diarrhea,... |
ORPHA:99827 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Benign Schwannoma |
|
Vestibular schwannoma, Abnormal esophagus morphology, Intestinal polyposis, Scleral schwannoma, S... |
ORPHA:252164 |
Mandibuloacral Dysplasia |
|
High palate, Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:2457 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci... |
ORPHA:786 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating prola... |
OMIM:174800 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Dubowitz Syndrome |
|
High palate, Hypoparathyroidism, Malabsorption, Neoplasm, Sparse scalp hair, Low anterior hairlin... |
ORPHA:235 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Anemia, Thrombocytopenia |
ORPHA:231393 |
Cowden Syndrome 1 |
|
Hydrocele testis, High palate, Lymphopenia, Breast carcinoma, Fibroadenoma of the breast, Ovarian... |
OMIM:158350 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Myelodysplasia, Neutropenia, Anemia, Thrombocyto... |
OMIM:619041 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm, Abnormal large intestine morphology, Narrow palate, Lipoma, Thyroid carcinoma, Uterine ... |
ORPHA:109 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Intrauterine growth retardation, Elevated hepatic transaminase, Postnat... |
OMIM:617093 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614337 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619048 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Cowden Syndrome 6 |
|
Hydrocele testis, High palate, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Furrow... |
OMIM:615109 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Eosinophilia, Squamous cell carcinoma, Decreased prop... |
OMIM:243700 |
Brooke-Spiegler Syndrome |
|
Salivary gland neoplasm, Skin appendage neoplasm, Abnormality of the sublingual glands, Multiple ... |
ORPHA:79493 |
Estrogen Resistance |
|
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:615363 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A... |
ORPHA:754 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Ichthyosis With Confetti |
|
Hypertrichosis, Decreased body weight, Hypoplastic nipples |
OMIM:609165 |