Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi... |
OMIM:615703 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus a... |
ORPHA:280356 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Primary ... |
OMIM:612526 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... |
ORPHA:446 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Oligomenorrhea, He... |
OMIM:613877 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... |
ORPHA:369 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Multiple lipomas |
ORPHA:2398 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Cryptorchid... |
OMIM:615381 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating creatinine conce... |
OMIM:617872 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Poly... |
ORPHA:79085 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen... |
ORPHA:264580 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Splenomeg... |
ORPHA:79083 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Congenital hepatic fibrosis, Cryptorchidism, Type II diabetes mellitus, Disp... |
ORPHA:2377 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r... |
ORPHA:435660 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Irregular menstruation, Diabetic ketoacidosis, Hepatic steato... |
OMIM:615238 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Polycystic ovaries, Abnormal circula... |
OMIM:608709 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Premature ovarian insufficiency |
ORPHA:3156 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... |
ORPHA:79319 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Insulin resist... |
ORPHA:2348 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepatosplenomegaly... |
OMIM:619858 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:617093 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema |
OMIM:176090 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Olig... |
ORPHA:435651 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... |
OMIM:300635 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pa... |
OMIM:246200 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Cholestasis, Glucose intolerance, Hepatic... |
OMIM:615630 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Ketotic hypoglycemia |
ORPHA:26792 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... |
OMIM:235200 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyperinsulinemic hypogly... |
OMIM:602579 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Insulin resistance, Insulin-... |
ORPHA:79086 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... |
OMIM:251880 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:601859 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas... |
OMIM:261680 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... |
OMIM:201475 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... |
ORPHA:541423 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglyce... |
ORPHA:2298 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Decreased circulating c... |
ORPHA:48818 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Ciliary Dyskinesia, Primary, 41 |
|
Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm, Recurrent otitis media |
OMIM:618449 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... |
ORPHA:848 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia, Elevated circulating cr... |
ORPHA:79322 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Patent ductus arteriosus, Hepatic steatosis, External genital hypoplasia |
OMIM:615996 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis |
ORPHA:110 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... |
OMIM:618805 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly |
OMIM:616651 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance |
ORPHA:140941 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Insulin resistance, Myocarditis... |
ORPHA:3452 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614874 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, E... |
ORPHA:171 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Hepatosplenomegaly,... |
OMIM:606003 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... |
OMIM:610198 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Monosomy 13Q34 |
|
Metrorrhagia, Insulin resistance, Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau... |
ORPHA:186 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:603909 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,... |
ORPHA:189427 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Insulin resistance, Decreased ferti... |
ORPHA:902 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Facial palsy, Eosinophilia |
OMIM:253600 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopit... |
OMIM:619013 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... |
OMIM:619487 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, D... |
ORPHA:280365 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hyper... |
OMIM:212065 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, ... |
ORPHA:231226 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturi... |
OMIM:137920 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... |
OMIM:614921 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Recurrent pneumonia, Reduced sperm motility |
OMIM:602271 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal reproductive system morphology, Abnormal circulating enzyme concentration or activity, H... |
ORPHA:70472 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Decreased circulating copper conce... |
OMIM:300972 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... |
OMIM:231530 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess |
OMIM:618282 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Steatorrhea, Hepatic fibrosis, Shawl scrotu... |
OMIM:616263 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Lymphoma, Bronchiectasis... |
OMIM:210900 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga... |
ORPHA:30391 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Insulin resistance, Biliary tract abnormality, Hepa... |
OMIM:209900 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly |
ORPHA:85447 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic stea... |
ORPHA:210548 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Primary hyper... |
ORPHA:562 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... |
OMIM:615895 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insuffi... |
ORPHA:199299 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, B lymphocytopeni... |
OMIM:602450 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:619418 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulati... |
ORPHA:99901 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Premature ... |
OMIM:240300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Insulin resistance, Recurrent pneumonia |
OMIM:214150 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Mac... |
ORPHA:298 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Reduced sperm m... |
OMIM:619436 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... |
ORPHA:293964 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... |
ORPHA:66634 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Premature ovarian insufficiency, Hypospa... |
ORPHA:2959 |
Nephronophthisis 16 |
|
Periportal fibrosis, Patent ductus arteriosus, Cholestasis |
OMIM:615382 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... |
ORPHA:2088 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... |
OMIM:216360 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... |
OMIM:617091 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... |
ORPHA:829 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Cystic Echinococcosis |
|
Hepatomegaly, Abscess, Eosinophilia, Abnormality of the testis size, Abnormal heart morphology, O... |
ORPHA:400 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Diabetes mellitus, Jaundice, Apl... |
ORPHA:93111 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia |
ORPHA:73272 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice, Hepat... |
ORPHA:231214 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... |
OMIM:608836 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... |
OMIM:619377 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... |
OMIM:268020 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Bloom Syndrome |
|
Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Male infertility, Premature ovarian insu... |
ORPHA:125 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis |
OMIM:238970 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Abnormality of the pancreas, Jaundice, Splenomegaly, Cholestasis, Incr... |
OMIM:222470 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu... |
ORPHA:98908 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hep... |
ORPHA:79259 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 12 |
|
Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni... |
OMIM:612650 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased HDL cholesterol concentration, Hyp... |
ORPHA:412 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Abnormal internal genitalia, Cystic liver disease, Bile duct proliferation, H... |
OMIM:612284 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... |
OMIM:256810 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis |
OMIM:614602 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlip... |
ORPHA:444490 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Steatorrhea, Postprandial... |
ORPHA:440713 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia |
OMIM:617885 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... |
ORPHA:227982 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Biliary cirrhosis, ... |
ORPHA:227990 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Bronchiectasis, Rhinitis, Infertility, Recurrent sinusitis, Recurrent o... |
OMIM:615500 |
Congenital Macroglossia |
|
Neurofibroma, Abnormal hepatic glycogen storage |
ORPHA:2430 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus |
OMIM:263210 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased L... |
ORPHA:14 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper... |
ORPHA:263455 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:300536 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Skin rash, Cheilitis, Hepatitis, Abnormal vagina morphology |
ORPHA:1334 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Insulin ... |
ORPHA:813 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:454836 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Hepatic steatosis |
ORPHA:254346 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... |
ORPHA:71 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Accessory spleen, Portal hypertension, Cryptorchidism, Patent duct... |
OMIM:620005 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ... |
ORPHA:52430 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Abnormality of the m... |
ORPHA:330015 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
Ciliary Dyskinesia, Primary, 11 |
|
Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Recurr... |
OMIM:612649 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... |
ORPHA:1454 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... |
OMIM:208500 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Cimdag Syndrome |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis, Polymicrogyria |
OMIM:619273 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Abnormal circulating lipid concentration |
ORPHA:381 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... |
ORPHA:228426 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Hepatitis, Ch... |
OMIM:194380 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Hypertrophic cardiomyop... |
ORPHA:183 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Cryptorchidism, Insulin resistance, Simplified gyral pattern, Micropenis, Abno... |
OMIM:616541 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure,... |
ORPHA:292 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Hypoglycemia |
OMIM:210200 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Recurrent otitis media, Asplenia |
OMIM:618948 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Hypospadias |
OMIM:614091 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Long penis,... |
ORPHA:769 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Chronic gastritis, Liver abscess, Diabetes mellitus, Cholangitis, Psoriasiform d... |
ORPHA:183675 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren... |
OMIM:612444 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Mednik Syndrome |
|
Cirrhosis, Increased circulating very long-chain fatty acid concentration, Hepatic fibrosis, Chol... |
OMIM:609313 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Pyelon... |
ORPHA:730 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Chronic otitis media, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I diabetes mellit... |
OMIM:613385 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Germ cell... |
ORPHA:90797 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hamartoma of tongue, Hepatic fibrosis, Ambiguous genitalia, Micropenis, Pach... |
OMIM:263520 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... |
ORPHA:2552 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:66628 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99228 |
Monosomy X |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99226 |
Turner Syndrome |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:881 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infecti... |
ORPHA:549 |
Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Splenomegaly, Patent ductus arteriosus, Abnormality of the liver, Coliti... |
ORPHA:84064 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Decreased HDL cholesterol concentration, Primary testicular failu... |
ORPHA:85450 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:179494 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... |
OMIM:269880 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Ciliary Dyskinesia, Primary, 22 |
|
Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Infertility, Recurrent sinusitis, R... |
OMIM:615444 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancre... |
OMIM:619991 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoca... |
OMIM:243800 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Cholestasis, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepatic failure... |
ORPHA:746 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Bronchiectasis, Chronic sinusitis, Recurrent otit... |
ORPHA:244 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogo... |
ORPHA:273 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Lichen Planopilaris |
|
Neoplasm of the oral cavity, Hepatitis |
ORPHA:525 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... |
OMIM:308230 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Pachygyria, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Annular pancreas, Cholestasis, Acholic st... |
OMIM:615710 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Estrogen Resistance |
|
Impaired glucose tolerance, Elevated alkaline phosphatase of bone origin, Acne, Hyperinsulinemia,... |
OMIM:615363 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:445038 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... |
OMIM:229600 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, Premature ovarian in... |
ORPHA:3261 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis, Hypermethioninemia, Hyperhomocystinemia |
OMIM:236200 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Hamartoma of tongue, Pancreatic cysts, Ovarian cyst, Gray matter hete... |
OMIM:311200 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoparathyroidism, Diabetes mellitus, Pancreatic fi... |
ORPHA:699 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Eosinophilia |
OMIM:158310 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Meckel Syndrome |
|
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital... |
ORPHA:564 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Neoplasm of the breast, Hyperglycemia, Hepatic steatosis, Renal neoplas... |
ORPHA:79474 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... |
ORPHA:96182 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm |
OMIM:242670 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Chronic otitis media, Chronic sinusitis, Polysplenia, Reduced progressive sperm motility |
OMIM:619608 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Myasthenia Gravis |
|
Myositis, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis |
ORPHA:589 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Alveolar Echinococcosis |
|
Liver abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Anemia,... |
ORPHA:284 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Acute pancreatitis, Jaundic... |
ORPHA:20 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Small scrotum, Hypoglycemia, Portal hypertension, Cholestasis, Bil... |
OMIM:613658 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent otitis medi... |
OMIM:608647 |
Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Cirrhosis, Portal hypertension |
ORPHA:974 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Apla... |
OMIM:274000 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Medulloblastoma, Odontogenic keratocysts of the jaw, Hyperlipidemia |
ORPHA:199276 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... |
ORPHA:64 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis |
OMIM:613989 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... |
ORPHA:572 |
Arima Syndrome |
|
Hepatomegaly, Gray matter heterotopia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Recurrent otitis media, Abdominal situs inversus, Chronic sinusitis |
OMIM:619607 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Azoospermia, Hepatic fibrosis, Bacte... |
ORPHA:2072 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... |
ORPHA:415 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prola... |
ORPHA:508533 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:615273 |
Adrenomyodystrophy |
|
Hepatic steatosis |
ORPHA:977 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Osteomyelitis, Pneumonia, Skin rash, Erythema nodosum, A... |
ORPHA:228123 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Glycosuria |
ORPHA:436271 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Thrombocytopenia,... |
ORPHA:3260 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... |
ORPHA:99429 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Hypermagnesemia, Gout, Parathyro... |
ORPHA:358 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, Conjunctiviti... |
OMIM:300755 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Joubert Syndrome 1 |
|
Hepatic fibrosis |
OMIM:213300 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib... |
OMIM:218330 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Patent ductus arteriosus, Periportal fibrosis, H... |
OMIM:269860 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Hypertriglyceridemia, Elevated circu... |
OMIM:619573 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Eczema, Esophageal c... |
ORPHA:391487 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Bronchiectasis, Reduced sperm motility |
OMIM:615434 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gl... |
OMIM:619534 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Hypoalbuminemia, Macro... |
OMIM:617303 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Abnormal ... |
ORPHA:436252 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614935 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In... |
OMIM:220110 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia |
OMIM:615453 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Hypocalcemic tetany, Atypical or prolonged hepatitis... |
ORPHA:83471 |
Igg4-Related Pachymeningitis |
|
Abnormality of cervical plexus, Abnormality of the brachial nerve plexus, Eosinophilia |
ORPHA:449427 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Zygomycosis |
|
Fasciitis, Sinusitis, Diabetes mellitus, Pericarditis, Gastritis, Hematological neoplasm, Pustule... |
ORPHA:73263 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Azotemia, Micropenis, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Elevated circulating C... |
OMIM:619381 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Increased circu... |
OMIM:615846 |
Spondyloenchondrodysplasia |
|
Enchondroma, Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hepatit... |
ORPHA:1855 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt... |
ORPHA:79330 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Facial capillary hemangioma, Hypoalbuminemia, Hypocholesterolemia, ... |
OMIM:270400 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipple... |
ORPHA:79328 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism, Impaired neutrophil c... |
ORPHA:79318 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:3163 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
ORPHA:391428 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis... |
OMIM:244400 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatospl... |
OMIM:219700 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Breast aplasia, Hyperlipidemia |
ORPHA:90153 |
Lymphatic Filariasis |
|
Orchitis, Epididymitis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis, Abnormality of th... |
ORPHA:2035 |
Incontinentia Pigmenti |
|
Leukocytosis, Optic atrophy, Eosinophilia |
OMIM:308300 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis |
ORPHA:584 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Hyperlipidemia |
ORPHA:90154 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Enterocolitis, T-cell lymphoma, Hypoplasia of the thymus, Interface hepa... |
OMIM:243150 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, He... |
ORPHA:90062 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Chronic... |
ORPHA:91139 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis |
ORPHA:319251 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurr... |
OMIM:606721 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Adrenocor... |
OMIM:130650 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve, Orchit... |
ORPHA:449563 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Abnormality of the sp... |
ORPHA:1606 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Gluco... |
OMIM:619127 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, ... |
OMIM:232240 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Glomerulonephritis, Lymphocytic... |
ORPHA:289390 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... |
ORPHA:466677 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Decreased respon... |
ORPHA:3464 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Patent ductus arteriosus, ... |
OMIM:300868 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
Digeorge Syndrome |
|
Acne, Parathyroid agenesis, Seborrheic dermatitis, Splenomegaly, Patent ductus arteriosus, Recurr... |
OMIM:188400 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Thalidomide Embryopathy |
|
Insulin resistance, Chronic rhinitis |
ORPHA:3312 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Cystinosis, Nephropathic |
|
Male infertility, Hepatomegaly, Hyponatremia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Re... |
OMIM:219800 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... |
ORPHA:2331 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Ogden Syndrome |
|
Eczema, Maternal diabetes, Microvesicular hepatic steatosis, Patent ductus arteriosus, Jaundice, ... |
OMIM:300855 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:355 |
Sarcoidosis |
|
Hepatomegaly, Hemolytic anemia, Eosinophilia, Facial palsy, Abnormal reproductive system morpholo... |
ORPHA:797 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Microvesi... |
ORPHA:404454 |
Igg4-Related Submandibular Gland Disease |
|
Prostatitis, Eosinophilia |
ORPHA:449432 |
Igg4-Related Kidney Disease |
|
Pericarditis, Prostatitis, Eosinophilia, Enlarged kidney |
ORPHA:449395 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Uterus ... |
ORPHA:93271 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia |
ORPHA:3320 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypospadias, Hypoglycemia, Microvesicular hepatic steatosis, Simplified gyral pattern, Hyperammon... |
OMIM:220111 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:608013 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Patent ductus arteriosus, Hepatic steatosis |
OMIM:619934 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Bifid scrotum, Osteomyelitis, Hypospadias, Jaundice, Neurofibroma,... |
OMIM:619475 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypospadias, Hypogonadotropic hypogonadism, Recurrent skin infections, Decr... |
ORPHA:3455 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Portal hypertension, Cryptorchidism, Atopi... |
OMIM:619503 |
Viss Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mitral valve prolapse, ... |
OMIM:619472 |
Occipital Horn Syndrome |
|
Jaundice, Hepatitis, Cholestasis, Esophagitis, Exostoses |
ORPHA:198 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... |
ORPHA:319213 |
Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Leukemia, Hypergonadotropic hypogonadism |
OMIM:227650 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Insulin resistance, Osteoarthritis, Hypoplastic male external genitalia, Del... |
ORPHA:740 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries |
ORPHA:137675 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Abnormal aortic valve morphology, Abnorm... |
ORPHA:581 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Optic nerve compression |
ORPHA:96253 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly |
ORPHA:97297 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Dermatomyositis |
|
Myocarditis, Pericarditis, Abnormal eosinophil morphology |
ORPHA:221 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
Noonan Syndrome 1 |
|
Male infertility, Juvenile myelomonocytic leukemia, Hypospadias, Cryptorchidism, Patent ductus ar... |
OMIM:163950 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Gonadoblastoma, Hypertrophic cardiomyop... |
ORPHA:116 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Thrombocytopenia |
OMIM:256040 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia |
OMIM:614083 |
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 |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
Williams Syndrome |
|
Abnormal endocardium morphology, Hypoplasia of penis, Overriding aorta, Bicuspid aortic valve, Ve... |
ORPHA:904 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Prostate cancer |
ORPHA:99889 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Apl... |
OMIM:194190 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... |
OMIM:135900 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Mitral valve prolapse, U... |
ORPHA:286 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia majora, ... |
OMIM:601803 |
Norrie Disease |
|
Cryptorchidism, Optic atrophy, Uterine rupture |
ORPHA:649 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |