| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... |
OMIM:232700 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... |
OMIM:246700 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... |
OMIM:619868 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... |
OMIM:616829 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he... |
OMIM:607765 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia |
OMIM:606664 |
| Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles... |
OMIM:616834 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... |
OMIM:614480 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... |
OMIM:619855 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Hypocholesterolemia, Hepatomegaly, Splenomegaly |
OMIM:610539 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... |
OMIM:619874 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... |
OMIM:615558 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... |
OMIM:615703 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... |
OMIM:616828 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu... |
OMIM:306000 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... |
OMIM:610947 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Hepatomegaly, Elevated circulating phytanic acid concentration, Failure to thrive, H... |
OMIM:266510 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Chylomicron Retention Disease |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol... |
ORPHA:71 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... |
OMIM:605814 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... |
OMIM:214900 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... |
OMIM:232400 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... |
ORPHA:369 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... |
OMIM:615980 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive |
OMIM:615863 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Insulin resistance, Hepatosplenomegaly, Splenom... |
OMIM:612526 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Failure to thrive, Hypocholesterolemia, Small for gestational age |
OMIM:610883 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... |
ORPHA:75234 |
| Diarrhea 13 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... |
OMIM:620357 |
| Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... |
OMIM:606785 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... |
ORPHA:2089 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating... |
OMIM:278000 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or activity, Increased ... |
ORPHA:79237 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... |
OMIM:619662 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... |
ORPHA:69663 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... |
OMIM:618156 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:613027 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... |
OMIM:615160 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... |
ORPHA:457083 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... |
OMIM:603471 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... |
OMIM:613752 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Decreased body weight, Elevated circulating creatine kinase concentration, Ab... |
ORPHA:96180 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... |
OMIM:612964 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus |
OMIM:246650 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic trans... |
OMIM:235555 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... |
OMIM:620010 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia |
OMIM:183350 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl... |
OMIM:619151 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Crigler-Najjar Syndrome, Type I |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:136120 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... |
ORPHA:567983 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... |
ORPHA:79644 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... |
OMIM:614841 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... |
ORPHA:79230 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:618117 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... |
OMIM:619013 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Hepatic steatosis |
OMIM:608709 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... |
OMIM:614837 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:617690 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... |
ORPHA:156 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... |
ORPHA:890 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
| Abetalipoproteinemia |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase c... |
ORPHA:14 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... |
OMIM:255120 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... |
OMIM:619658 |
| Gilbert Syndrome |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure, Unconjugated ... |
OMIM:143500 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Cog4-Cdg |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline... |
ORPHA:263501 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... |
OMIM:616278 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... |
ORPHA:79303 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... |
OMIM:613313 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat... |
ORPHA:247585 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Decreased ... |
OMIM:615238 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... |
OMIM:273250 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic fibro... |
OMIM:212065 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty... |
OMIM:615812 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Elev... |
OMIM:606069 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Neonatal hypoglycemia, El... |
ORPHA:71212 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... |
ORPHA:209902 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ... |
OMIM:612310 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male... |
OMIM:615381 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Bile Acid Synthesis Defect, Congenital, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Steatorrhea, Elevated circulating ... |
OMIM:617308 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating al... |
OMIM:613812 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,... |
OMIM:605911 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Hepatomegaly, Splenomegaly |
OMIM:606445 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... |
ORPHA:2088 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... |
OMIM:600649 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... |
ORPHA:2394 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... |
OMIM:147480 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Precocious puberty in female... |
ORPHA:528 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Eleva... |
OMIM:616860 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... |
ORPHA:412 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Biliary cirrh... |
OMIM:620454 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... |
OMIM:617885 |
| Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... |
ORPHA:755 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... |
OMIM:133180 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... |
OMIM:619484 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... |
ORPHA:264580 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
OMIM:246900 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... |
OMIM:617253 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... |
OMIM:613490 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:618620 |
| Bile Acid Malabsorption, Primary, 2 |
|
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... |
OMIM:619481 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... |
OMIM:237800 |
| Mody |
|
Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Abnormal circulating C-... |
ORPHA:552 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Biliary Atresia, Extrahepatic |
|
Cirrhosis, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:210500 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hypophosphatemic rickets, Elevated circulating ... |
ORPHA:263455 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega... |
OMIM:230400 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t... |
ORPHA:77296 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... |
ORPHA:79240 |
| Isolated Biliary Atresia |
|
Decreased liver function, Xanthelasma, Elevated circulating hepatic transaminase concentration, C... |
ORPHA:30391 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... |
OMIM:300752 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Prostate cancer, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology |
ORPHA:145 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoket... |
ORPHA:228305 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, ... |
ORPHA:444490 |
| Hyperlipoproteinemia, Type Id |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... |
OMIM:615947 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase c... |
ORPHA:75563 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... |
ORPHA:567548 |
| Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly |
ORPHA:31150 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... |
OMIM:238600 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic cholestasis, ... |
OMIM:214950 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Hyperammonemia,... |
OMIM:617049 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... |
OMIM:618528 |
| Bile Acid Conjugation Defect 1 |
|
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... |
OMIM:619232 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... |
ORPHA:158057 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg... |
OMIM:602347 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts, Dec... |
OMIM:222765 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c... |
OMIM:278850 |
| Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced ... |
ORPHA:90363 |
| Alg12-Cdg |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... |
ORPHA:79324 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Hyperins... |
ORPHA:79086 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Insulin ... |
ORPHA:79085 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... |
OMIM:610717 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Elevated circulating C-reactive pro... |
ORPHA:158061 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp... |
OMIM:617093 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... |
ORPHA:94086 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... |
ORPHA:86816 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Jaundice, Cirrhosis, Hepatome... |
ORPHA:186 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... |
ORPHA:2298 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Failure t... |
OMIM:619064 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Cholestasis, E... |
OMIM:609015 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension |
OMIM:610293 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased circulating iron co... |
OMIM:604250 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico... |
OMIM:615300 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Biliary tract abnormality, Obesity, Type II diabetes me... |
ORPHA:3191 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler... |
OMIM:235200 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis |
OMIM:271500 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperbilirubinem... |
ORPHA:1667 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... |
OMIM:251880 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Splenomegaly, Portal hypertension |
OMIM:617068 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... |
OMIM:618549 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov... |
ORPHA:432 |
| Porphyria Cutanea Tarda |
|
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... |
ORPHA:101330 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... |
ORPHA:210136 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... |
ORPHA:79302 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... |
OMIM:277700 |
| Infantile Liver Failure Syndrome 2 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperammonemia, Acute hepatic ... |
OMIM:616483 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... |
OMIM:615234 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology |
ORPHA:247768 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... |
ORPHA:99901 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... |
OMIM:242150 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,... |
OMIM:608800 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... |
OMIM:603553 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Steatorrhea, Elevated circulating hepatic transaminase concent... |
OMIM:618752 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... |
OMIM:616026 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Coach Syndrome 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic fibrosis, Conge... |
OMIM:619111 |
| Glycogen Storage Disease Ia |
|
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... |
OMIM:232200 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... |
ORPHA:90797 |
| Barth Syndrome |
|
Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio |
OMIM:302060 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... |
ORPHA:26793 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
| Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia |
OMIM:615363 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... |
OMIM:151660 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H... |
OMIM:617156 |
| Liver Failure, Infantile, Transient |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... |
OMIM:613070 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Micropenis, Ascites, Asplenia |
OMIM:602361 |
| Preeclampsia |
|
Elevated circulating hepatic transaminase concentration, Abnormality of the hepatic vasculature, ... |
ORPHA:275555 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
ORPHA:79095 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland, Elevated circulating hepatic transaminase concentration, Decreased circula... |
OMIM:617395 |
| Immunodeficiency 47 |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circu... |
OMIM:300972 |
| Sitosterolemia 1 |
|
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Increased ... |
OMIM:210250 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... |
OMIM:201450 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... |
OMIM:154230 |
| Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... |
ORPHA:98908 |
| Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... |
ORPHA:64743 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... |
OMIM:202010 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr... |
ORPHA:69665 |
| Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Red... |
OMIM:212138 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... |
OMIM:613404 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating creatine kinase con... |
OMIM:610131 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u... |
OMIM:601186 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated circulating tetradecanoylcarnitine concentration, Elevated circulating hepatic transamin... |
OMIM:619355 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Abnormal circulating thyroglobulin concentration, In... |
ORPHA:90674 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... |
ORPHA:2457 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he... |
ORPHA:275761 |
| Glycogen Storage Disease Ib |
|
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... |
OMIM:232220 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... |
ORPHA:90796 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... |
ORPHA:189427 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... |
OMIM:613327 |
| Mirage Syndrome |
|
Anemia, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Microphallus, Hyp... |
OMIM:617053 |
| Estrogen Resistance Syndrome |
|
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... |
ORPHA:785 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Elevated cir... |
ORPHA:540 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... |
ORPHA:367 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hyp... |
OMIM:618641 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Elevated circulating hepatic transaminase concentration, Elevated circulating C-re... |
ORPHA:54251 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... |
ORPHA:98907 |
| Vaginal Atresia |
|
Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,... |
ORPHA:65681 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Cachexia, Weight loss, Type I diabetes mellitus, Hyperl... |
ORPHA:1979 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... |
ORPHA:159 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Glycosuria, Elevated circulating creatinine concentration, Elevate... |
OMIM:614817 |
| Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Cirrhosis, Increased total iron binding capacity, Elevated circulating ... |
OMIM:613280 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... |
ORPHA:470 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... |
ORPHA:65682 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... |
OMIM:617591 |
| Spherocytosis, Type 5 |
|
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... |
OMIM:612690 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Failure to thrive, Hyper... |
OMIM:615453 |
| Cadds |
|
Increased circulating very long-chain fatty acid concentration, Elevated circulating hepatic tran... |
ORPHA:369942 |
| Nephronophthisis 19 |
|
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... |
OMIM:616217 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... |
OMIM:618329 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... |
ORPHA:400 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... |
OMIM:203800 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... |
OMIM:235700 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Overweight, Obesity, Hype... |
ORPHA:90041 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... |
OMIM:619849 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Elevated circulating follicle stimulat... |
OMIM:618419 |
| Interstitial Lung And Liver Disease |
|
Cirrhosis, Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Elevated circulati... |
OMIM:615486 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Dyst... |
OMIM:241080 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Bardet-Biedl Syndrome 20 |
|
Elevated circulating hepatic transaminase concentration, Pancreatitis, Obesity, Male hypogonadism... |
OMIM:619471 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatomegaly, Elevated circulating hepatic transaminase... |
ORPHA:829 |
| Overlap Myositis |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating hepatic transam... |
ORPHA:206572 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Apolipoprotein A-I Deficiency |
|
Abnormal circulating lipid concentration, Xanthelasma, Decreased HDL cholesterol concentration |
ORPHA:425 |
| Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:2833 |
| Alopecia Universalis |
|
Abnormal circulating lipid concentration, Type I diabetes mellitus, Abnormality of the thyroid gland |
ORPHA:701 |
| Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... |
ORPHA:158048 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... |
ORPHA:348 |
| Woodhouse-Sakati Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat... |
ORPHA:3464 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:77293 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Splenomegaly, Hepatitis |
ORPHA:381 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Decreased transferrin saturation, Abnorm... |
ORPHA:300298 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... |
OMIM:616689 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating 7-dehydrocholesterol con... |
OMIM:270400 |
| Refractory Celiac Disease |
|
Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra... |
ORPHA:398063 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:182900 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:269700 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:608594 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:609441 |
| Autoimmune Hepatitis |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... |
ORPHA:2137 |
| Stormorken Syndrome |
|
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Primary Sclerosing Cholangitis |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple... |
ORPHA:171 |
| Tyrosinemia, Type I |
|
Cirrhosis, Hypophosphatemic rickets, Elevated circulating hepatic transaminase concentration, Hep... |
OMIM:276700 |
| Gallbladder Disease 1 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... |
OMIM:600803 |
| Caroli Syndrome |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Intrahepatic choles... |
ORPHA:480520 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... |
ORPHA:3203 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Biliary tract abnormality, Atretic vas def... |
OMIM:137920 |
| Ciliary Dyskinesia, Primary, 53 |
|
Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus |
OMIM:620642 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
| Spherocytosis, Type 4 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus |
OMIM:615866 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperbilirubi... |
OMIM:557000 |
| Spherocytosis, Type 2 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
| Reynolds Syndrome |
|
Steatorrhea, Calcinosis, Elevated circulating hepatic transaminase concentration, Jaundice, Hepat... |
OMIM:613471 |
| Mirizzi Syndrome |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... |
ORPHA:521219 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... |
ORPHA:562639 |
| Elliptocytosis 1 |
|
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, J... |
ORPHA:309854 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:289548 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... |
OMIM:229600 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Tremor, Exaggerated startle response |
OMIM:620327 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus |
OMIM:110100 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr... |
ORPHA:93111 |
| Tyrosinemia, Type Iii |
|
Elevated circulating hepatic transaminase concentration, Hypertyrosinemia |
OMIM:276710 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... |
OMIM:118450 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina |
OMIM:146255 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary |
ORPHA:3109 |
| Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... |
OMIM:618280 |
| Pagod Syndrome |
|
Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the spleen, Abnormality ... |
ORPHA:991 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Hypothyroidism, Insulin resistance, Diabetes mellitus, ... |
OMIM:616541 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... |
ORPHA:572333 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... |
ORPHA:2237 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ... |
ORPHA:699 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... |
OMIM:201750 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Livedoid Vasculopathy |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Graves disease, Hyperhomocystinemia |
ORPHA:542643 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Micropenis |
OMIM:614083 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Precocious puberty, Dystonia, Laryngeal dystonia |
ORPHA:845 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... |
ORPHA:90794 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Biliary tract abnormality, Hypoplasia of ... |
OMIM:261540 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Limb-Mammary Syndrome |
|
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... |
ORPHA:69085 |
| Fabry Disease |
|
Abnormal circulating lipid concentration, Delayed puberty, Diabetes insipidus, Hyperlipidemia, Hy... |
ORPHA:324 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple |
ORPHA:1521 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ... |
OMIM:274000 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus |
OMIM:236680 |
| Peters Plus Syndrome |
|
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus |
ORPHA:709 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism |
OMIM:614527 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Thrombocytopenia, Exaggerated startle response |
OMIM:620423 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... |
ORPHA:322 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali... |
OMIM:194190 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Exaggerated startle response, Precocious puberty, Uterine prolapse, Dystonia, Abnormality... |
ORPHA:438213 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture |
OMIM:130050 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypospadias, Imperforate hymen, Hematocolpos, Exaggerated startle response, Chordee, Cryptorchidi... |
OMIM:619522 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... |
OMIM:276820 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:135900 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
| Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... |
OMIM:601803 |
