Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 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 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors |
OMIM:135290 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Intestinal polyposis |
OMIM:175450 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Endometrial carcinoma, Abnormal bleeding, Juvenile colonic polyposis, Rectal p... |
ORPHA:157794 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... |
ORPHA:209964 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... |
ORPHA:424019 |
Cowden Syndrome 4 |
|
Hamartoma, Renal neoplasm, Trichilemmoma, Breast carcinoma |
OMIM:615107 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Mismatch Repair Cancer Syndrome 4 |
|
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly... |
OMIM:619101 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... |
OMIM:613244 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased mean cor... |
ORPHA:98870 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia |
OMIM:615863 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis |
OMIM:615615 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Hemangioma, Volvulus, Intussuscepti... |
OMIM:112200 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Alopecia, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrhea, ... |
ORPHA:2930 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts |
OMIM:182170 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei... |
OMIM:277175 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... |
OMIM:620189 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... |
ORPHA:251992 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho... |
ORPHA:75234 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Hypoplastic areola, Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus st... |
OMIM:616001 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abdominal pain, Abnormal gastr... |
ORPHA:263665 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... |
OMIM:135150 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma |
OMIM:612591 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Neoplasm, Osteosarcoma |
OMIM:601811 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Hypoplastic areola, Aplasia/Hypoplasia of the nipples, Absent nipple, Aplasia/Hypoplasia of the b... |
OMIM:113700 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Epistaxi... |
ORPHA:99147 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia |
OMIM:606764 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Abdominal pain, Leukocyto... |
ORPHA:2070 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... |
OMIM:175200 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Colitis, Crohn's disease |
OMIM:613148 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... |
ORPHA:424016 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... |
OMIM:231200 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... |
ORPHA:100075 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Hemangioma |
OMIM:106070 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aganglionic megaco... |
ORPHA:897 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-... |
OMIM:607616 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201710 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Ab... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Ab... |
ORPHA:100082 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, T lymphocytopenia, Inflammation of the large intestine, B lymphocyto... |
OMIM:618108 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Increased circulating free fatty acid level |
ORPHA:293964 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... |
ORPHA:210548 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... |
OMIM:202110 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia |
OMIM:153550 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, High palate |
OMIM:618010 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Wide intermamillary distance, Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly, Craniosynostosis, Micrognathia |
OMIM:601374 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... |
OMIM:605814 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma multif... |
ORPHA:144 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Abnormal bleeding, Abdominal pain, High, narrow p... |
ORPHA:79076 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal dis... |
ORPHA:83469 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Iron deficie... |
OMIM:226300 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Neoplasm |
ORPHA:168811 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Gynecomastia, Adrenogenital syndrome |
OMIM:201910 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... |
OMIM:618078 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Abdominal pain, Diarrhea, Melena, ... |
ORPHA:319218 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... |
ORPHA:369 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ne... |
OMIM:194072 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Wide intermamillary distance, Hypogonadotropic hypogonadism, Crypt... |
ORPHA:432 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro... |
OMIM:133180 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Microcytic anemia, Visceral angiomatosis, Cavernous hemangioma, Intestin... |
ORPHA:1059 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... |
ORPHA:69085 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphope... |
OMIM:619510 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Uterine l... |
OMIM:617100 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Tetraamelia Syndrome 2 |
|
Micropenis, Absent nipple |
OMIM:618021 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c... |
OMIM:616050 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Absent hair |
OMIM:614940 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:329249 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... |
ORPHA:247768 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... |
ORPHA:906 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Fat malabsorption, Hypocholeste... |
ORPHA:71 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Myocardial infarction, Abdominal pain, Intestinal perforation, Thrombocytopenia,... |
ORPHA:90038 |
Adult Syndrome |
|
Sparse scalp hair, Wide intermamillary distance, Absent nipple, Fair hair, Sparse axillary hair, ... |
OMIM:103285 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Adrenal hypoplasia, Hypoplasia of the uterus, Failure to ... |
OMIM:619151 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Splenomegaly, Abnormal bleeding, Malabsorption |
ORPHA:79301 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, Pure red cell aplasia, Erythroid hypop... |
ORPHA:124 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... |
ORPHA:1414 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
Nipples, Supernumerary |
|
Supernumerary nipple |
OMIM:163700 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Fine hair, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Adrenocortical adenoma, C... |
ORPHA:97283 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Adrenocortical adenoma, C... |
ORPHA:97278 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration... |
ORPHA:314478 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Mismatch Repair Cancer Syndrome 3 |
|
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... |
OMIM:619097 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito... |
ORPHA:343 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic areola, Hypogonadism, Hypoplastic nipples |
OMIM:273400 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Acute colitis, Abdominal pain, Congestive heart failure, Leukocytosis, Ga... |
ORPHA:67 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Onych... |
OMIM:224750 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... |
OMIM:187900 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... |
OMIM:301000 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly |
OMIM:609981 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato... |
OMIM:619523 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Epistaxis, Abdominal pain, Albinism, Hematoche... |
OMIM:203300 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Galactor... |
ORPHA:397685 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... |
ORPHA:314473 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hypertyrosinemia, Elevated circulating alpha-... |
OMIM:276700 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin, Nail dystrophy, Small nail |
OMIM:181600 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... |
ORPHA:440437 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Malabsorption, Hypersplenism, Thrombocytopen... |
ORPHA:98850 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Microcytic anemia, Pulmonary embolism, Retinal telangiectasia, Intes... |
ORPHA:774 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Malabsorption, Abdominal pain, Splenomegaly, Lymph... |
ORPHA:100025 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Abnormali... |
ORPHA:1173 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating co... |
OMIM:615830 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
D-Glyceric Aciduria |
|
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Follicular thy... |
ORPHA:97282 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Hodgkin lymphoma, Absent circulating B cells |
OMIM:620282 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Curly hair, Cryptorchidism, Protuberant abdomen, Hemangioma, Intestinal polyp |
ORPHA:457485 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Adrenocor... |
ORPHA:97280 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... |
ORPHA:69663 |
Barber-Say Syndrome |
|
Inverted nipples, Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hypoplastic la... |
OMIM:209885 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Abnormality of the breast, Uterus didelphys, Bicornuate uterus, Unicornuate uterus |
OMIM:200980 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Chronic diarrhea, Squamous ce... |
OMIM:601675 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Werner Syndrome |
|
Alopecia of scalp, Meningioma, Osteosarcoma |
OMIM:277700 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Hemorrhagic Fever-Renal Syndrome |
|
Intracranial hemorrhage, Vomiting, Ecchymosis, Internal hemorrhage, Nausea, Abdominal pain, Leuko... |
ORPHA:340 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... |
OMIM:615980 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic d... |
OMIM:304790 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... |
ORPHA:276 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenom... |
ORPHA:652 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... |
ORPHA:96181 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Breast ca... |
OMIM:608615 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Petechiae, Epistaxis, Cerebral hemorrhage, Abdo... |
ORPHA:99828 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Anemia |
ORPHA:318 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Hypoplastic labia minora, Aplasia/Hypoplasia of the breasts, Abnormality of... |
ORPHA:64755 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Refractory Anemia |
|
Normocytic anemia, Abnormal bleeding, Macrocytic anemia, Abnormal cardiac ventricular function, S... |
ORPHA:98826 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... |
OMIM:616176 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... |
ORPHA:3440 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... |
OMIM:617718 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Chronic diarrhea, Congestive ... |
OMIM:615895 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Hyperspl... |
ORPHA:480520 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... |
OMIM:617341 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o... |
ORPHA:618 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Protruding tongue, Macroglossia, T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis |
OMIM:608709 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypoplastic nipples, Hypospadias, Hypoplastic female external genitalia |
OMIM:177980 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morphology, Hi... |
ORPHA:2457 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Anal stenosis, Abnormality of neutrophils, Malabsorption, ... |
ORPHA:235 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the submandibular glands, Basal ... |
ORPHA:79493 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Neoplasm of head and neck, Goiter, Breast carcinoma, Papillary renal cell carcinoma, Colon cancer... |
ORPHA:97290 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619048 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:231393 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Ichthyosis With Confetti |
|
Decreased body weight, Hypoplastic nipples, Hypertrichosis |
OMIM:609165 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... |
ORPHA:109 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Abnormality of the gastrointestinal tract |
ORPHA:2089 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Osteosarcoma |
OMIM:620072 |
Mccune-Albright Syndrome |
|
Intestinal polyposis, Hyperparathyroidism, Elevated circulating growth hormone concentration, Pit... |
OMIM:174800 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, B-cell lymphoma, Burkitt lymphoma |
OMIM:620232 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... |
OMIM:616216 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Hypereosinophilia, Abdominal pain |
ORPHA:449400 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Aplasia/Hypoplastia of the eccrine... |
OMIM:305100 |
Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal eosinophil morphology, Abnormal large intesti... |
ORPHA:171 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ische... |
ORPHA:183 |
Immunodeficiency 16 |
|
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple |
OMIM:104350 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho... |
ORPHA:79095 |
Rift Valley Fever |
|
Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Anemia, Gingival bleeding, ... |
ORPHA:319251 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... |
ORPHA:221008 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi... |
OMIM:243700 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess |
OMIM:619752 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet... |
OMIM:614350 |
Pgm3-Cdg |
|
Lactose intolerance, Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia,... |
ORPHA:443811 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Hypersplenism, Thrombocytope... |
ORPHA:64743 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Pudendal Neuralgia |
|
Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genitourinary tract... |
ORPHA:60039 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic steatosis |
ORPHA:26792 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Small for gestational age, Thin eyebrow, Supernumerary nipple |
OMIM:617635 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Sparse or ab... |
ORPHA:221016 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... |
ORPHA:160 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Myelodysplasia |
OMIM:300448 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Zygomycosis |
|
Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Abdominal pain, Hemat... |
ORPHA:73263 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... |
ORPHA:99429 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Cowden Syndrome 1 |
|
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ... |
OMIM:158350 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Benign Schwannoma |
|
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... |
ORPHA:252164 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia, Hypoplastic ni... |
ORPHA:3138 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary cent... |
OMIM:616202 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha... |
ORPHA:189427 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Sparse hair, Ungual fi... |
ORPHA:1433 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Cowden Syndrome 6 |
|
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ... |
OMIM:615109 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:619386 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
ORPHA:412 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... |
ORPHA:79319 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Cowden Syndrome 5 |
|
Colonic diverticula, Subcutaneous lipoma, Breast carcinoma, Furrowed tongue, Hamartomatous polypo... |
OMIM:615108 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
Barber-Say Syndrome |
|
Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl scrotum, Failure to thrive... |
ORPHA:1231 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlipidemia, Hepatosplen... |
ORPHA:444490 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... |
OMIM:228300 |
Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, Diarrhea, C... |
ORPHA:99745 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp... |
ORPHA:263501 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillar... |
ORPHA:319487 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Chronic diarrhea, Furrowed tongue, Melena, Corneal neovascularization |
OMIM:158310 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Iron deficiency anemia, Inflammation of the large intestine,... |
OMIM:301074 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Autoimmune thr... |
OMIM:603909 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Small scrotum, Absent nipple, Small for gestational age, Cryptorchidism, Synop... |
OMIM:612289 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... |
ORPHA:90308 |
Fibrous Dysplasia Of Bone |
|
Testicular neoplasm, Elevated circulating growth hormone concentration, Cutaneous myxoma, Ovarian... |
ORPHA:249 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... |
OMIM:620186 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia |
OMIM:605231 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin concentration,... |
OMIM:618963 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Baller-Gerold Syndrome |
|
Lymphoma, Osteosarcoma |
ORPHA:1225 |
Scarf Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Perineal hypospadias, Low posterior ... |
ORPHA:3134 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... |
OMIM:615381 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, ... |
ORPHA:231401 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Macroglossia, Cirrhosis, Hypercholesterolemia, Hepatic steato... |
ORPHA:528 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ov... |
ORPHA:110 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... |
OMIM:115310 |
Rhabdoid Tumor |
|
Nausea and vomiting, Renal neoplasm, Hypercalcemia, Poor appetite, Abdominal pain, Thrombocytopen... |
ORPHA:69077 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea |
OMIM:600705 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hepatosplenomegaly, Steatorrhea, Exocrine pancr... |
OMIM:219700 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... |
OMIM:618805 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... |
ORPHA:324636 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Malabsorpt... |
ORPHA:33226 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Branchioskeletogenital Syndrome |
|
Absent nipple, Highly arched eyebrow, Absent external genitalia, Synophrys, Micropenis, Penoscrot... |
ORPHA:1299 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Hematemesis, Thrombocytopenia, Splenomegaly, ... |
OMIM:615846 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Intestinal obstruction, Congenital hypoparathyroidism |
ORPHA:2323 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie... |
OMIM:235510 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Hypospadias, Supernumerary nipple, Cachexia, Cryptor... |
ORPHA:217346 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Abnormal bleeding, Myelodysplasia, Anemi... |
ORPHA:75564 |
Junctional Epidermolysis Bullosa Inversa |
|
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut... |
ORPHA:79405 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, High palate |
ORPHA:254531 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Porphyria, Acute Intermittent |
|
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hep... |
OMIM:176000 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Orchitis, Sple... |
ORPHA:342 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis |
OMIM:616871 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Temple Syndrome |
|
Hypertriglyceridemia, Cleft palate, High palate, Hypercholesterolemia, Bifid uvula |
OMIM:616222 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... |
ORPHA:79456 |
Woods Syndrome |
|
Frontal hirsutism, Supernumerary nipple |
OMIM:615236 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Acute lym... |
ORPHA:1052 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail dyst... |
OMIM:106260 |
Limb-Mammary Syndrome |
|
Hypoplastic nipples |
OMIM:603543 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia |
ORPHA:79477 |
Monosomy 13Q34 |
|
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic steatosis |
ORPHA:96168 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Schistocytosis, Elevated circulating creatinine concentration, Hyperli... |
OMIM:235400 |
Malaria |
|
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyp... |
ORPHA:673 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Galactokinase Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyp... |
ORPHA:79237 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Porphyria Variegata |
|
Abdominal pain, Ileus, Constipation, Hepatocellular carcinoma, Nausea, Anemia, Hypertrichosis |
ORPHA:79473 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pilomatrixoma, Cryptorchidism, Spinal cord tumor, Neoplasm, Meningioma |
ORPHA:353281 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Micrognathia |
OMIM:614120 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le... |
ORPHA:1359 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia |
ORPHA:156 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Cryptorchidism, Hemangioma, Hypoplastic nipples |
OMIM:618505 |
Shigellosis |
|
Anorexia, Intestinal perforation, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Vomiting, ... |
ORPHA:810 |
Scarf Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low anterior hairline, Perineal hypo... |
OMIM:312830 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Supernumerary nipple |
OMIM:616083 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... |
OMIM:261750 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly, Acrania, Micrognathia |
OMIM:618820 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... |
OMIM:187800 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... |
OMIM:611926 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... |
ORPHA:540 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h... |
ORPHA:261584 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... |
ORPHA:85443 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
X-Linked Creatine Transporter Deficiency |
|
Constipation, Ileus, Aganglionic megacolon |
ORPHA:52503 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple |
ORPHA:3224 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia |
OMIM:617408 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut... |
ORPHA:79406 |
Acces Syndrome |
|
Sparse scalp hair, Failure to thrive, Supernumerary nipple |
OMIM:619959 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Micrognathia |
OMIM:617562 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Gastroesophageal ... |
OMIM:608233 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Malabsorption |
OMIM:152800 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Alopecia, Gastritis, Malabsorption, Autoimmune thrombocytopenia, Spl... |
ORPHA:37042 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Malabsorption, Feeding difficulties in infancy, Cleft palate... |
ORPHA:50 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anteriorly placed anus, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydrometrocolpos, Vaginal atresia, Obesity |
OMIM:615989 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea, Exocrine pa... |
ORPHA:586 |
Congenital Macroglossia |
|
Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Rectal prolapse, Feeding difficulties, Hypoplasia of the thym... |
OMIM:613177 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Tetrasomy 9P |
|
Cryptorchidism, Pilomatrixoma, Absent gallbladder |
ORPHA:3310 |
Methanol Poisoning |
|
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Permanent atrial fibrillation, Inflam... |
ORPHA:31825 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... |
ORPHA:98907 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Diarrhea, Leukopenia, Anemia |
ORPHA:33355 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Neutr... |
OMIM:615285 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Anal canal squamous carcinoma |
ORPHA:217390 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Diarrhea, Leukocytos... |
ORPHA:32960 |
Martin-Probst Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Chordee, Hypoplastic nipples, Microp... |
OMIM:300519 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Pancytopenia, Sp... |
OMIM:603553 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level |
OMIM:610768 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hype... |
OMIM:201475 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Ventricular septal defect, Hydrocephalus, Meningocele, Anenc... |
OMIM:611134 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Renal neoplasm, Alopecia, Abnormal hair morphology, Abnormal hair whorl, ... |
ORPHA:79474 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Cryptorchidism, Premature graying of hair, Squamous cell carcinoma of the skin, N... |
OMIM:620365 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Tyshchenko Syndrome |
|
Cryptorchidism, Low anterior hairline, Thick hair, Supernumerary nipple |
OMIM:615102 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... |
OMIM:314050 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Paralytic ileus, Dysphagia |
OMIM:613559 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut... |
ORPHA:79411 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Highly arched eyebrow |
ORPHA:261311 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Sialuria |
|
Synophrys, Low posterior hairline, Hypoplastic nipples, Generalized hirsutism, Hirsutism |
OMIM:269921 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Malabsorption, Anorexia, Spleno... |
ORPHA:3452 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia |
OMIM:182290 |
Nablus Mask-Like Facial Syndrome |
|
Wide intermamillary distance, Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorc... |
OMIM:608156 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Prolonged bleeding time, Pericarditis, Gastritis, ... |
ORPHA:809 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f... |
OMIM:269150 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Synophrys, Ileus, High palate |
OMIM:620156 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Cleft palate, High palate, Hypercholesterolemia, Bifid uvula |
ORPHA:96184 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Small for gestational age, Supernumerary nipple, Facial capillary hemangioma, Low an... |
OMIM:604314 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Feeding difficulties, Anteriorly plac... |
OMIM:239300 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Camptobrachydactyly |
|
Septate vagina |
OMIM:114150 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Highly arched eyebrow, Trichiasis, Pilomatrixoma, Cryptorchidism, Hydrocele testis, Meningioma |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Highly arched eyebrow, Trichiasis, Pilomatrixoma, Cryptorchidism, Hydrocele testis, Meningioma |
ORPHA:353277 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Hep... |
ORPHA:101330 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... |
OMIM:159550 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate |
OMIM:616730 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, Vasculitis, Gastrointestinal infarctio... |
ORPHA:91138 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th... |
ORPHA:79434 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Apla... |
ORPHA:1521 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism |
OMIM:614514 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar... |
ORPHA:900 |
Ulnar-Mammary Syndrome |
|
Inverted nipples, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Spar... |
OMIM:181450 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Cleft palate |
ORPHA:289522 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Frontal bossing |
ORPHA:166024 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
Xeroderma Pigmentosum, Complementation Group C |
|
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... |
ORPHA:3464 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Rectal atresia, Anal atresia |
OMIM:613390 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Wolman Disease |
|
Nausea and vomiting, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Malnutrition, Es... |
ORPHA:75233 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con... |
ORPHA:79086 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Neurofibroma |
|
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... |
ORPHA:252183 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Immunodeficiency 70 |
|
Celiac disease, Colitis, B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:618969 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Abdomina... |
ORPHA:398063 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Malnutrition, Squamous cell c... |
OMIM:226600 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinom... |
ORPHA:79409 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Developmental And Epileptic Encephalopathy 51 |
|
Failure to thrive, Supernumerary nipple |
OMIM:617339 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hypopigmentation of hair, Epistaxis, Anorexia, Ma... |
ORPHA:79430 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... |
OMIM:110100 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Low plasma citrulline,... |
OMIM:261680 |
Diamond-Blackfan Anemia 1 |
|
Basal cell carcinoma, Myelodysplasia, Osteosarcoma |
OMIM:105650 |
Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Breast aplasia |
ORPHA:276413 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abdominal pain, Spl... |
ORPHA:163746 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting |
OMIM:300352 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... |
ORPHA:727 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Molar tooth s... |
OMIM:614815 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... |
OMIM:619381 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Increased circulating ferritin concentration, Congestive heart failure, Elevated tr... |
OMIM:613313 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... |
OMIM:241080 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Localized neuroblastoma, Wide intermamillary distance, Hypoplastic nipples |
OMIM:156610 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Cryptorchidism, Hypospadias, Supernumerary nipple |
OMIM:618109 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Intr... |
OMIM:617093 |
Diamond-Blackfan Anemia 9 |
|
Anemia, Webbed neck |
OMIM:613308 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Abdominal pain, Thrombocytopenia... |
OMIM:210250 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Frontal bossing |
OMIM:300804 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Hepat... |
OMIM:619573 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Myelodysplasia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Leukemia, Micropenis |
OMIM:619951 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Hemangioma, Polycythemia |
ORPHA:284227 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, T lymphocytopenia, Intermittent diarrhea, Focal active colitis,... |
OMIM:616433 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Premature graying of hair, Gastroesophageal reflux... |
OMIM:614742 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:614465 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Filippi Syndrome |
|
Cryptorchidism, Supernumerary nipple |
ORPHA:3255 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... |
OMIM:615438 |
Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism |
ORPHA:2519 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abnormality of neutrophi... |
ORPHA:36426 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... |
OMIM:129400 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Abnormal hair quantity, Peptic ulcer, Elevated circulating growth ho... |
ORPHA:2796 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot... |
ORPHA:298 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... |
ORPHA:96253 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, High, narrow palate, Chronic constipation, Feeding difficulties |
OMIM:619575 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma |
OMIM:610474 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Anemia, Intestinal atresia |
ORPHA:3405 |
Czeizel-Losonci Syndrome |
|
Wide intermamillary distance, Hypoplastic nipples |
ORPHA:2437 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... |
OMIM:617253 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X... |
OMIM:232220 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Paralytic ileus, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia |
ORPHA:254930 |
Immunodeficiency 46 |
|
Chronic diarrhea, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Cryptorchidism, Synophrys, Low posterior hairline, Micropenis |
OMIM:618929 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
Incontinentia Pigmenti |
|
Alopecia, Supernumerary nipple, Fine hair, Coarse hair, Breast aplasia, Hypoplastic nipples, Nail... |
OMIM:308300 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal bleeding, Abnormal circulating protein concentration, Single lin... |
ORPHA:86839 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Raynaud phenomenon, Punctate vasculitis skin lesi... |
ORPHA:247691 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... |
OMIM:615866 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Thick hair, Pyloric stenosis, Gastroin... |
ORPHA:363705 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... |
ORPHA:77293 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, B-cell lymp... |
ORPHA:91139 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Abnormal T cell subset distribution, B lymphocytopenia, Gastroesophageal reflux, Decreased propor... |
ORPHA:221139 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... |
OMIM:236700 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... |
OMIM:604292 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, High anterior hairline, Hypoplastic nipples, Micropenis |
OMIM:615546 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Rectal prolapse, Pseudohypoparathyroidism, Feeding difficulties, Gastroesophageal reflux, High pa... |
OMIM:617157 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Chronic neutropenia, Hepatocellular carcinoma,... |
ORPHA:79259 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Medulloblastoma |
|
Nausea and vomiting, Adenomatous colonic polyposis, Medulloblastoma, Spinal cord tumor, Neoplasm ... |
ORPHA:616 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga... |
OMIM:250250 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Stomati... |
OMIM:613011 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Cryptorchidism, Hypoplastic nipples, Failure to thrive, C... |
OMIM:614866 |
Leprechaunism |
|
Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum, Facial hypertrichosis, Hyper... |
ORPHA:508 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... |
OMIM:129900 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatoce... |
OMIM:232200 |
Schimke Immuno-Osseous Dysplasia |
|
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Transient ischemic attack, Thrombocytopenia, ... |
ORPHA:1830 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Mgat2-Cdg |
|
Inverted nipples, Abnormality of the endocrine system, Long eyelashes, Hypoplastic nipples, Failu... |
ORPHA:79329 |
Bazex-Dupre-Christol Syndrome |
|
Basal cell carcinoma, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Feeding difficulties in infancy, Cryptorchidism, Hirsutism, Megarectum, Leukopenia, Thrombocytopenia |
OMIM:301056 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr... |
OMIM:610198 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Multiple Osteochondromas |
|
Osteochondroma, Chondrosarcoma, Intestinal obstruction, Rib exostoses, Scapular exostoses, Dysphagia |
ORPHA:321 |
Joubert Syndrome 7 |
|
Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia |
OMIM:611560 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Tufted Angioma |
|
Purpura, Petechiae, Thrombocytopenia, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial... |
ORPHA:1063 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Esophageal varix, Leukopenia, Sparse ... |
ORPHA:974 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple |
ORPHA:246 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Nail dystrophy, Failure to thrive in infancy, Hypoplastic nipples |
ORPHA:261323 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia... |
OMIM:617591 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein ... |
ORPHA:91547 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent nipple, Hypospadias, Sparse eyelashes, Small for gestational age, Failu... |
OMIM:216340 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... |
OMIM:614921 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Hepatic steatosis, Decreased liver function, Dysphagia |
ORPHA:70472 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Decreased serum zin... |
ORPHA:541423 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Hypothyroidism, Aplasia/Hyp... |
ORPHA:1812 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... |
ORPHA:98908 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Elevated circulating luteinizing hormone level, Highly arched eyebrow,... |
OMIM:618419 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Increas... |
ORPHA:90041 |
2P15P16.1 Microdeletion Syndrome |
|
Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Fine hair, Long eyelashes, Hy... |
ORPHA:261349 |
Alg9-Cdg |
|
Inverted nipples, Low posterior hairline, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic... |
ORPHA:79328 |
Trisomy 12P |
|
Thick eyebrow, Supernumerary nipple |
ORPHA:1699 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Gastroesophageal reflux, Cleft palate |
ORPHA:819 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
X-Linked Agammaglobulinemia |
|
Alopecia, Malabsorption, Thrombocytopenia, Chronic diarrhea, Glossoptosis, Neoplasm, Neutropenia,... |
ORPHA:47 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, High palate, Cleft palate |
OMIM:618348 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... |
ORPHA:470 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Woolly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Decreased b... |
OMIM:618268 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Hypoplasia of... |
OMIM:614424 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Wide intermamillary distance, Highly arched eyebrow, Supernumerary nipple, Spa... |
ORPHA:1001 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Rhabdomyosarcoma, Feeding difficulties in infancy, Adrenocortical carcinoma, Exoc... |
ORPHA:116 |
Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Anorexia, Hematological... |
ORPHA:824 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Dysphag... |
ORPHA:100026 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Low posterior hai... |
OMIM:122470 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Hepatic steatosis, Cleft palate |
ORPHA:254346 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Hypospadias, Cryptorchidism, Absence of labia majora, H... |
OMIM:265000 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Bazex Syndrome |
|
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma |
ORPHA:166113 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Short-segment aganglionic megacolon, Crypt... |
OMIM:609136 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Cleft palate, Molar tooth sign on MRI, Bifid uvula |
OMIM:614175 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... |
ORPHA:439232 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Wide intermamillary distance, Hypoplastic nipples, Hamartoma of tongue |
OMIM:269860 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Char Syndrome |
|
Supernumerary nipple |
ORPHA:46627 |
Czech Dysplasia |
|
Osteochondroma |
OMIM:609162 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Supernumerary nipple |
OMIM:614376 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Inflammation of the large intest... |
OMIM:232240 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ... |
OMIM:620040 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Gingival bleeding, Neutro... |
ORPHA:88 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:212138 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Gastroesophageal reflux, Hepatic steatosis |
ORPHA:300536 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Arterial ruptur... |
ORPHA:287 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Functional intestinal obstruction |
ORPHA:199276 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Abdo... |
ORPHA:436252 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Rectal prolapse, Narrow palate, Coarse hair, High palate, Thick eyebrow |
OMIM:303600 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Cryptorchidism, Supernumerary nipple |
OMIM:612530 |
Bohring-Opitz Syndrome |
|
Wide intermamillary distance, Thick hair, Supernumerary nipple, Low anterior hairline, Hypertrich... |
OMIM:605039 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breast hypoplasia |
OMIM:230740 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Abnormal leukocyte morphology, Hypertriglyceridemia,... |
ORPHA:167 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Inverted nipples, Supernumerary nipple, Sparse eyebrow, Synophrys, High anterior hairline, Thick ... |
OMIM:620098 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Widow's peak, Supernumerary nipple |
OMIM:619122 |
Bainbridge-Ropers Syndrome |
|
Thick eyebrow, Supernumerary nipple, Highly arched eyebrow, Precocious puberty, Cryptorchidism, S... |
OMIM:615485 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Failure to thrive, Urogenital sinus anomaly |
ORPHA:2473 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Adrenomyodystrophy |
|
Hepatic steatosis, Short stature, Abnormal intestine morphology |
ORPHA:977 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, Or... |
OMIM:618165 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis |
OMIM:611812 |
Poliomyelitis |
|
Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea |
ORPHA:2912 |
Neuhauser Syndrome |
|
Hypercholesterolemia, High palate, Bifid uvula, Dysphagia |
OMIM:249310 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Supernumerary nipple |
OMIM:616579 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Cleft palate, Hydrocele testis, Neutropenia, Congenital thrombocytopenia, Anemia |
OMIM:616738 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Frontal bossing |
OMIM:617120 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... |
OMIM:609583 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Sy... |
ORPHA:261494 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Large for gestational age, Low-set nipples, Fine hair, Hydrocele testis, A... |
OMIM:280000 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
H Syndrome |
|
Hypertriglyceridemia, Short stature, Malabsorption, Microcytic anemia, Hepatosplenomegaly, Delaye... |
ORPHA:168569 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Truncal obe... |
OMIM:209900 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased L... |
ORPHA:14 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Hepati... |
ORPHA:280365 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis |
OMIM:615996 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam... |
ORPHA:79432 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Abdominal pain, Thrombocytopenia, Abdominal distention, Leukopenia, P... |
ORPHA:2330 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Hy... |
ORPHA:848 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent... |
OMIM:617021 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Abdominal pain, C... |
ORPHA:90362 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hyperhomocystinemia, High palate, Hypermethioninemia, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Osteogenesis Imperfecta |
|
Intestinal obstruction, Visceral angiomatosis, Constipation, Dysphagia, Thrombocytopenia |
ORPHA:666 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Williams Syndrome |
|
Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Sudden cardiac death, Abdominal ... |
ORPHA:904 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar... |
ORPHA:520 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre... |
ORPHA:2538 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophr... |
ORPHA:199 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic labia majora, Sparse hair, Hypoplastic nipples, Amb... |
OMIM:200110 |
Postaxial Acrofacial Dysostosis |
|
Cryptorchidism, Micropenis, Supernumerary nipple |
OMIM:263750 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... |
OMIM:277900 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Abnormal bleeding, Nausea and vomiting, Brain neoplasm, Elevated carcin... |
ORPHA:370348 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Growth delay, Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis |
OMIM:231530 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly |
ORPHA:31150 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Hyperlipidemia, High palate, Hypercholesterolemia |
OMIM:248370 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the nipples, Vaginal atresia |
ORPHA:3301 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly, Leukocytosis... |
OMIM:612840 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Molar tooth sign... |
ORPHA:220493 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus |
OMIM:619111 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Frontal bossing |
OMIM:617757 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Short stature, Microcytic anemia, T lymp... |
ORPHA:2959 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N... |
ORPHA:348 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangie... |
ORPHA:221 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, High palate |
ORPHA:2479 |
Malakoplakia |
|
Abdominal pain, Orchitis, Diarrhea, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of the colon |
ORPHA:556 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation, Steatorrhea, Hepa... |
OMIM:616263 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612924 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Papi... |
ORPHA:363618 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Medial flaring of the eyebrow, Celiac disease, Feeding difficulties in infan... |
OMIM:194050 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Frontal upsweep of hair, Micropenis, Sparse medial eyebrow |
OMIM:610954 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypopl... |
OMIM:300707 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Steatorrhea, Hepatic fibrosis, Hypo... |
OMIM:212065 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Failure to thrive, Diabetes mellitus, Hypospadias, Small for gestational age, ... |
OMIM:243800 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612926 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... |
ORPHA:699 |
Icf Syndrome |
|
Abnormality of neutrophils, Malabsorption, Protruding tongue, Macroglossia, Lymphopenia, Anemia |
ORPHA:2268 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... |
ORPHA:1655 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
3Mc Syndrome |
|
Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple |
ORPHA:293843 |
Bloom Syndrome |
|
Poor appetite, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Stomach cancer, Decreas... |
ORPHA:125 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera... |
OMIM:256810 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Chordee |
OMIM:616728 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia |
OMIM:210200 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Malar flattening, Frontal bossing |
OMIM:607131 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Wide intermamillary distance, Hamartoma of tongue, Septate vagina, Uterus did... |
OMIM:617925 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia |
OMIM:273395 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Malnutrition, Squamous cell carcinoma, A... |
ORPHA:89842 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... |
OMIM:231680 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Meconium ileus, Feeding difficulties |
OMIM:617239 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Nausea and vomiting, Angina pectoris, Transient... |
ORPHA:324 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, I... |
ORPHA:565612 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte... |
OMIM:619487 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Biliary hyperplasia, Pancre... |
ORPHA:731 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Prolonged neonatal jaundice, Hypercholesterolemia, Abnormal circulating thyroglobul... |
ORPHA:90674 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Postnatal growth retardation, Lymphoma, Squamous cell carcinoma, Growth ... |
OMIM:210900 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Anemia, Premature graying of hair, Neoplasm, Na... |
ORPHA:3322 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Hamartomatous stomach polyps, M... |
OMIM:109400 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide intermamillary distance, Decreased response to growth hormone stimulation test, Supernumerar... |
OMIM:213980 |
Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia, Abnormality of the hairline |
OMIM:248450 |
Carpenter Syndrome 2 |
|
Wide intermamillary distance, Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidi... |
OMIM:614976 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Hodgkin lymphoma, Micropenis, Failure to thrive |
ORPHA:2896 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Presacral teratoma, Septate vagina |
OMIM:176450 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Anorexia, Malabsorption... |
OMIM:557000 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Hemangioma, A... |
ORPHA:83628 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Steatorrhea, Persistence ... |
OMIM:260400 |
Mirage Syndrome |
|
Myelodysplasia, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Thrombocytopenia, Hypopla... |
OMIM:617053 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Molar tooth sign on MRI |
ORPHA:220497 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... |
ORPHA:3243 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Feed... |
OMIM:620358 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating ... |
OMIM:185070 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu... |
OMIM:230800 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Hypospadias, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, ... |
ORPHA:477993 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Myelodysplasia, Nail pits, Premature graying of hair, Squamous cell carcin... |
OMIM:127550 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Thick eyebrow, Hirsutism, Cardiac rhabdomyoma |
OMIM:618971 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Growth delay, Infection associated neutropenia, Neutropenia, Hepat... |
ORPHA:445038 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Hypoplasia o... |
OMIM:616546 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Anemia |
OMIM:616457 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612925 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon, Molar tooth sign on MRI |
ORPHA:2318 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal... |
ORPHA:288 |
Joubert Syndrome 2 |
|
Encephalocele, Brainstem dysplasia, Hydrocephalus, Hypoplasia of the brainstem, High palate, Mola... |
OMIM:608091 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Gastroint... |
ORPHA:761 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... |
OMIM:118450 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Abdominal pain, Sple... |
ORPHA:822 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Obesity, Micropenis |
OMIM:618653 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Atypical or prolonge... |
ORPHA:83471 |
Doors Syndrome |
|
Adrenal hyperplasia, Low anterior hairline, Congenital hypothyroidism, Capillary hemangioma, Ambi... |
ORPHA:79500 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Low anterior hairline, Hypoplasia o... |
OMIM:617666 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, White eyebrow, Synophrys, Premature graying of hair, Aplasia of the vagina, Whit... |
OMIM:193500 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Growth delay, Leukopenia, Neutropenia, Intrauterine growth retardation, Hepatic steat... |
OMIM:616271 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Palmar telangi... |
OMIM:613471 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, High palate |
OMIM:608612 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Wide intermamillary distance, Failure to thrive, Hypospadias, Supernumerary nipple |
ORPHA:397715 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis |
OMIM:619471 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Hypoplastic left heart |
OMIM:619562 |
Aromatase Deficiency |
|
Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Hypopigmentation of hair, Malabsorption, Feedin... |
ORPHA:565 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Esophageal carcinoma, ... |
ORPHA:391487 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Anorexia, M... |
ORPHA:117 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Supernumerary tooth, Brachyturricephaly, Retrognathi... |
ORPHA:314621 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Highly arched eyebrow, Supernumerary nipple |
ORPHA:247262 |
Huntington Disease-Like 1 |
|
Abnormal posturing |
ORPHA:157941 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab... |
ORPHA:93111 |
Au-Kline Syndrome |
|
Inverted nipples, Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Failure to ... |
OMIM:616580 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple |
ORPHA:457279 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... |
OMIM:618372 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, White hair, Fine hair, Lymphopenia, Anemia |
ORPHA:935 |
Chromosome 17Q12 Deletion Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Nail ... |
OMIM:614527 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoalbuminemia, Bile duct proliferation, Macrovesicular hepatic s... |
OMIM:618329 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... |
OMIM:619127 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Macroglossia, Leukopenia, Hypoalbuminemia, Macroves... |
OMIM:617303 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h... |
ORPHA:66634 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Focal Dermal Hypoplasia |
|
Brittle hair, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Patchy alopecia, Hypopla... |
OMIM:305600 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, High palate |
ORPHA:90153 |
Oliver Syndrome |
|
Thick eyebrow, Supernumerary nipple |
ORPHA:2920 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Diarrhea, Thymoma, Dysphagia, Anemia |
ORPHA:169105 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Jaundice, Bicarbonaturi... |
OMIM:229600 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Microphallus |
OMIM:618454 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Neoplasm, S... |
ORPHA:1775 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicular size |
OMIM:619321 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Short stature, Intestinal malrotation, Portal hypert... |
OMIM:613658 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Renal neoplasm, Abdominal pain, Retinal hamartoma, Renal angiomyolip... |
ORPHA:538 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Inverted nipples, Wide intermamillary distance, External genital hypoplasia, Large for gestationa... |
ORPHA:96334 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Esophageal varix, Molar tooth sign on MRI |
OMIM:216360 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypoplasia of t... |
OMIM:603554 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Chronic diarrhea, Rectal abscess, Neutropenia |
OMIM:601495 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Gastroesophageal reflux, Abnormal gastr... |
ORPHA:369837 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Vaginal atresia, Fused labia minora |
OMIM:207410 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Chromosome 13Q14 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Retinoblastoma, Supernumerary nipple |
OMIM:613884 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Chronic diarrhea, Rectal abscess |
OMIM:116920 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis |
OMIM:307030 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Pancr... |
ORPHA:263455 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Coarse hair, Sparse hair, Dystrophic fing... |
ORPHA:1071 |
Meacham Syndrome |
|
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina |
OMIM:608978 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:567 |
Joubert Syndrome 1 |
|
Brainstem dysplasia, Protruding tongue, Occipital myelomeningocele, Macroglossia, Hypoplasia of t... |
OMIM:213300 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Supernumerary nipple |
ORPHA:1236 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Cryptorchidism, High anterior hairline, Capillary hemangioma, Supernumerary nipple |
OMIM:619194 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia |
OMIM:611126 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid ac... |
ORPHA:20 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Diarrhea, Intracranial hemorrhage, Prolong... |
ORPHA:90062 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus |
OMIM:236680 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Thrombocytopenia, Fine hair, Premature graying of hair, Intestinal bleedi... |
OMIM:612199 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Micrognathia, Hypoplasia of the pons, Dental malocclusion, Hypoplas... |
ORPHA:444072 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Hi... |
OMIM:309800 |
Incontinentia Pigmenti |
|
Alopecia, Supernumerary nipple, Abnormal hair morphology, Verrucae, Dystrophic toenail |
ORPHA:464 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Hypocalcemia, Lym... |
OMIM:619991 |
Slc35A2-Cdg |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal midbrain morphology, Atrophy/Degeneratio... |
ORPHA:356961 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... |
ORPHA:97685 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia, High palate, Long uvula, Narrow palate |
ORPHA:536532 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... |
ORPHA:3261 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing |
ORPHA:216866 |
Acute Transverse Myelitis |
|
Paralytic ileus, Constipation, Gastroparesis |
ORPHA:139417 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ... |
OMIM:618278 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Encephalocele, Hypoplastic facial bones, Stillbirth, Molar tooth ... |
OMIM:616300 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypoplastic left heart, Molar t... |
OMIM:277170 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI |
OMIM:617622 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Hypospadias, Nephroblastoma, Supernumerary nipple, Cryptorchidism, Neoplasm,... |
ORPHA:373 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI |
OMIM:615665 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Reduced haptoglobin level, Anemia of inadequate production, Congenital hypopla... |
OMIM:105600 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Frontal bossing |
OMIM:619185 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix, Hypertension |
OMIM:263200 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Hypocalcemia, Chronic hepatic failure, Cholestasis |
ORPHA:746 |
Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... |
OMIM:610688 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal a... |
ORPHA:2753 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal eyelash morphology, Feeding difficulties, Abnormal rectum morphology, Abnormal testis mo... |
ORPHA:2556 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Decreased testicular size, Oropharyngeal squamous cell carcinoma, Pancyto... |
OMIM:305000 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hamartoma, Hydrometrocolpos, Vaginal atresia |
OMIM:617088 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:618161 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Atrial septal defect, Elongated superior cerebellar peduncle |
OMIM:608629 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Myeloid leukemia, Nephroblastoma, Failure to ... |
ORPHA:798 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:256040 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture |
OMIM:225400 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... |
ORPHA:466791 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Myocardial infarction, Pulmon... |
ORPHA:447 |
3Mc Syndrome 1 |
|
Highly arched eyebrow, Synophrys, Supernumerary nipple |
OMIM:257920 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Titubation |
ORPHA:225147 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inverted nipples, Cryptorchidism, Hypothyroidism, Supernumerary nipple |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inverted nipples, Cryptorchidism, Hypothyroidism, Supernumerary nipple |
ORPHA:352665 |
Oculoectodermal Syndrome |
|
Supernumerary nipple, Pineal cyst |
OMIM:600268 |
Chand Syndrome |
|
Curly hair, Imperforate hymen |
ORPHA:1401 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Facial capillary hemangioma, Precociou... |
OMIM:270400 |
Sacral Defect With Anterior Meningocele |
|
Constipation, Sacral lipoma, Rectal abscess |
OMIM:600145 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concentration, N... |
ORPHA:480880 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Kindler Epidermolysis Bullosa |
|
Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of the large... |
ORPHA:2908 |
Vici Syndrome |
|
Neutropenia, Cleft palate, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate... |
OMIM:242840 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Yellow Fever |
|
Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Abdominal pain, Hematemesis,... |
ORPHA:99829 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Retrognathia |
OMIM:617563 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Gastroesophageal reflux, Inc... |
ORPHA:17 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteochondroma, Sparse scalp hair, Bilateral cryptorchidism, Osteoma, Rib exostoses, Fragile nail... |
OMIM:150230 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing |
OMIM:128100 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Gastroesophageal reflux, Intrah... |
OMIM:619534 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Septate vagina, Cryptorchidism, Adrenal insufficiency, Laterally curved eyebrow, Dec... |
OMIM:300166 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, High palate, Decreased liver function, Increased intramyocellular lipid droplets, I... |
OMIM:220110 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... |
ORPHA:404454 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Malabsorption, Narrow palate, Hypokalemia, Hyperaldosteronism, Gastr... |
ORPHA:534 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia |
ORPHA:436271 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Squamous cell carcinoma of the skin, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, C... |
OMIM:124000 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Arima Syndrome |
|
Hepatomegaly, Esophageal varix, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:243910 |
Ataxia-Telangiectasia |
|
Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Decreased proportion o... |
OMIM:208900 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Autoimmune hemolytic anemia, Thrombocytopenia, Cleft palate, T lymphocytopenia, B ... |
OMIM:251260 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Holoprosencephaly, Malar flatteni... |
OMIM:157170 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Hype... |
OMIM:301068 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Hypercholesterolemia, Intestinal pseudo-obstruction, Oral-pharynge... |
ORPHA:273 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Recurrent pancreatitis, Dysphagia |
OMIM:606721 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Celiac disease, Gastrointestinal dysmotility, Hyperl... |
ORPHA:293987 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Cleft palate, Narrow palate, T lymphocytopenia, Abnormal B cell morphology |
OMIM:618223 |
Fraser Syndrome |
|
Wide intermamillary distance, Hypoplasia of penis, Small scrotum, Hypospadias, Abnormal hair patt... |
ORPHA:2052 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cleft palate, Thickened superior cerebellar ped... |
OMIM:610188 |
Fraser Syndrome 1 |
|
Absent eyebrow, Wide intermamillary distance, Hypospadias, Absent eyelashes, Cryptorchidism, Exte... |
OMIM:219000 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Intestinal malrotation, Large placenta, Hydrocephalus, Patent ductus art... |
OMIM:249000 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamillary distance, Alopecia,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamillary distance, Alopecia,... |
ORPHA:99228 |
Monosomy X |
|
Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamillary distance, Alopecia,... |
ORPHA:99226 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,... |
ORPHA:508533 |
Turner Syndrome |
|
Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamillary distance, Alopecia,... |
ORPHA:881 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Wide intermamillary distance, Hypospadias, Bilobate gallbladder, Crypto... |
OMIM:261540 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Feeding difficulties in infancy, Nasogastric tube feeding in infancy... |
ORPHA:508488 |
Apert Syndrome |
|
Cryptorchidism, Vaginal atresia |
OMIM:101200 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Atrial septal defect, Ventricular septal defect, Hamartoma of tongue, Pa... |
OMIM:615948 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Feeding difficulties in infancy, Synophrys, Hydrocele testis, High palate, Gastroe... |
ORPHA:280633 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Squamous cell carcinoma, Trichilemm... |
ORPHA:477 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Frontal bossing, Biparietal narrowing, Micrognathia |
ORPHA:2754 |
Peters Plus Syndrome |
|
Wide intermamillary distance, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia ... |
ORPHA:709 |
Branchiooculofacial Syndrome |
|
Wide intermamillary distance, Hypospadias, Supernumerary nipple, Cryptorchidism, Low posterior ha... |
OMIM:113620 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, High palate, Hepatic steatosis |
OMIM:619934 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:306400 |
Ogden Syndrome |
|
Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis, Jaundice, Narrow p... |
OMIM:300855 |
Plague |
|
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, En... |
ORPHA:707 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, High, narrow palate, Jaundice, Short uvula, Neurofibroma, Ankylogl... |
OMIM:619475 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m... |
ORPHA:512 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Wide intermamillary distance, Hypospadias, Short nail, Supernumerary nipple, Cryptorchidism, Hype... |
OMIM:312870 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainste... |
ORPHA:68 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, High palate, Cirrhosis, Elevated hepatic iron con... |
OMIM:300868 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology |
ORPHA:79139 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Penile Agenesis |
|
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia |
ORPHA:49 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Parietal foramina, Cleft of chin, Oxycephaly, Brachycephaly, Plagiocep... |
OMIM:101400 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Broad eyebrow |
OMIM:235730 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Frontal bossing |
OMIM:619476 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Short stature, Growth delay, Severe intrauterine growth retardation, Submuc... |
ORPHA:3455 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Intrauterine growth retardation, Hypertriglyceridemia, Short stature |
OMIM:264090 |
1P36 Deletion Syndrome |
|
Short stature, Abnormality of the spleen, Pyloric stenosis, Abnormality of the liver, Neuroblasto... |
ORPHA:1606 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Small scrotum, Hypospadias, Sparse eyelashes, Supernumerary nipple, ... |
OMIM:601803 |
Digeorge Syndrome |
|
Short stature, Splenomegaly, High, narrow palate, Thrombocytopenia, Cleft palate, High palate, Hy... |
OMIM:188400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ventricular septal defect |
OMIM:619306 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpos, Imperforate hymen |
OMIM:619522 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Portal hypertension, Esophageal varix, Cholestasis, Hepatosplenomegaly, Dyspha... |
OMIM:619503 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hyperammonemia, Anteriorly placed anus, Dysphagia, Increased he... |
OMIM:220111 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen... |
ORPHA:261537 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg... |
ORPHA:64 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Horizontal... |
ORPHA:2152 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Frontal bossing |
OMIM:619479 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Hypospadias, Septate vagina, Highly arched eyebrow, Cryptorchidism, Hydrocele test... |
ORPHA:261552 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Supernumerary tooth, Molar tooth sign on MRI, Trigonocephaly |
ORPHA:434179 |
Cenani-Lenz Syndrome |
|
Malar flattening, Frontal bossing, Abnormal dental enamel morphology |
ORPHA:3258 |