Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... |
ORPHA:79234 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis |
ORPHA:488191 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:620010 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Pancreatitis, Increased serum bile acid concentration, Hepatomegaly, Intra... |
OMIM:243300 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea |
OMIM:617442 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Sensorineural he... |
OMIM:614300 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Pendred Syndrome |
|
Cochlear malformation, Increased circulating thyroglobulin level, Abnormal vestibular function, C... |
OMIM:274600 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Hyperbilirubinemia, Jaundice, Conjugated hyperbili... |
ORPHA:3111 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:95433 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... |
OMIM:612310 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... |
OMIM:619256 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hear... |
ORPHA:52368 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... |
OMIM:616278 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237550 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Hearing impairment |
ORPHA:101009 |
Hyperbilirubinemia, Rotor Type |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237450 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Elevated circulating alanine aminotransfer... |
OMIM:605814 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:237800 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly |
ORPHA:2924 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hyperlipi... |
OMIM:214900 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Decreased liver function, Elevated hepatic transaminase, Hyperprolinem... |
OMIM:616299 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529799 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:890 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Vestib... |
ORPHA:231169 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morphology, Periportal fibro... |
ORPHA:64743 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Polycystic liver disease |
OMIM:174050 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Cholestatic liver di... |
OMIM:613404 |
Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinemi... |
ORPHA:95716 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Abnormal serum bile acid concentration, Hyperbilirubinemia, Elevated hepatic tra... |
ORPHA:79303 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hyperbil... |
ORPHA:79302 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Chol... |
OMIM:208085 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Cupped ear, Sensorineural hearing impairment |
OMIM:619075 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Hyperbilirubinemia, Hepatocellular carcinoma, Elevated hepatic transaminase, Hep... |
ORPHA:158057 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Neonatal hyperbili... |
ORPHA:73272 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating fer... |
OMIM:616860 |
Wilson Disease |
|
Limb dystonia, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepat... |
OMIM:277900 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Hy... |
OMIM:613070 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Elevated ... |
OMIM:608836 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Elevated circula... |
OMIM:619685 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Sensorineural hearing impairment |
OMIM:609727 |
Infantile Sialic Acid Storage Disease |
|
Cerebral atrophy, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:269920 |
Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Fumarase Deficiency |
|
Hepatic failure, Optic atrophy, Hyperbilirubinemia, Cholestasis, Cerebral atrophy |
OMIM:606812 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Intrahepatic choles... |
OMIM:235555 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... |
ORPHA:234 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
Primary Biliary Cholangitis |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Hepatic fibrosis, Cirrhosis, Hepatic... |
ORPHA:186 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circula... |
ORPHA:766 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Hepatomegaly, Prolonge... |
OMIM:618892 |
Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Increased circulating ferritin con... |
ORPHA:3240 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Jaundice... |
OMIM:617049 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Wolcott-Rallison Syndrome |
|
Abnormality of the liver, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Hyperammon... |
ORPHA:1667 |
Caroli Disease |
|
Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia |
OMIM:605479 |
Deafness, Autosomal Recessive 24 |
|
Profound sensorineural hearing impairment |
OMIM:611022 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Splenomegaly, Cerebellar vermis atrophy, Sensorineural hearing impairment,... |
OMIM:614866 |
Caroli Syndrome |
|
Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Hyperbilirubinemia... |
ORPHA:480520 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Hyperbilirubinemia, Jaundice, Elevated hepatic t... |
ORPHA:400 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Hyperbilirubine... |
OMIM:617156 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating long cha... |
OMIM:614886 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Jaundice, Hyperuricemia, Cholelithiasis |
OMIM:232800 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Cholecy... |
ORPHA:69665 |
Distal Xq28 Microduplication Syndrome |
|
Absent antihelix, Neonatal hyperbilirubinemia, Microtia |
ORPHA:293939 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Increased LDL chol... |
OMIM:267700 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Periportal fibrosis, Conjugated hyperbilirubinemia, Intrahepatic c... |
OMIM:619484 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Hyperbilirubinemia, Cholecystitis, Cholelithiasis, Splenomegaly |
OMIM:235700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Cholecystitis, Hepatomegaly... |
OMIM:266200 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elev... |
ORPHA:567983 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Optic atrophy, Hyperbilirubinemia, Hepatosplenomegaly, Cerebral atrophy, Hepatom... |
OMIM:259720 |
Ring Chromosome Y Syndrome |
|
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... |
ORPHA:261529 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Cerebral at... |
OMIM:619260 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... |
OMIM:301068 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Hyperbili... |
OMIM:611881 |
Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati... |
ORPHA:2137 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis |
OMIM:182900 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Increased circulating very... |
OMIM:614887 |
Lathosterolosis |
|
Conductive hearing impairment, Bilobate gallbladder, Abnormal circulating cholesterol concentrati... |
OMIM:607330 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... |
ORPHA:30391 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Hyperbilirubinemia, Interface hepatitis, Elevated hepatic t... |
ORPHA:562639 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased... |
OMIM:603553 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Tremor |
ORPHA:713 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, C... |
OMIM:615710 |
Bor Syndrome |
|
Atresia of the external auditory canal, Hypoplasia of the cochlea, Abnormality of the middle ear ... |
ORPHA:107 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:616689 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:185000 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Spherocytosis, Type 4 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
Relapsing Fever |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Elevated circulating C-reacti... |
ORPHA:91547 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Cholestasis |
OMIM:609734 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Jaundice, Macrotia, Conjugated hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:168577 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Lissencephaly Due To Lis1 Mutation |
|
Hypsarrhythmia, Neonatal hyperbilirubinemia, EEG with changes in voltage, Opisthotonus, EEG with ... |
ORPHA:95232 |
Hepatocellular Carcinoma |
|
Hemobilia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypokalemia, Hyperbilirubin... |
ORPHA:88673 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Hyperbilirubinemia, Increased total iron binding capacity, Increas... |
ORPHA:98870 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... |
ORPHA:3008 |
Mirizzi Syndrome |
|
Cholesterol gallstones, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Cholelithias... |
ORPHA:521219 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Intermittent jaundice, Abnormal blood potassium concentration, Increas... |
ORPHA:3202 |
Spherocytosis, Type 2 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:616649 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Hyperbilirubinemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaund... |
ORPHA:288 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated hepatic transaminase |
ORPHA:542323 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Decreased LDL cholesterol concentration, Cirrhosis, Hyperbilirubinemia, Elevate... |
ORPHA:14 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Diffuse ce... |
ORPHA:84081 |
Cranioectodermal Dysplasia 2 |
|
Biliary cirrhosis, Hyperbilirubinemia, Polysplenia, Elevated hepatic transaminase, Portal fibrosi... |
OMIM:613610 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Hepatic steatosis, Neonatal hyperb... |
ORPHA:348 |
Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Liver Disease, Severe Congenital |
|
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Cholesteatoma, Elevated circulat... |
OMIM:619991 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Microtia, Hyperbilirubinemia, Hypocalcemia, Posteriorly rotated ears |
ORPHA:163979 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Chronic hepatiti... |
ORPHA:39812 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hand tremor, Cervical spin... |
ORPHA:101085 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Hereditary Spherocytosis |
|
Jaundice, Hyperbilirubinemia, Hepatomegaly, Cholelithiasis, Splenomegaly |
ORPHA:822 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
EEG abnormality, Hypsarrhythmia, Hyperbilirubinemia, Multifocal epileptiform discharges, Elevated... |
OMIM:619475 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia, Prolonged neonatal jaundice, Splenomegaly, Hepatomegaly |
OMIM:224120 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Jaundice, Prolonged neonatal jaundice, Decreased glucose-6-phosp... |
OMIM:300908 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Biliary cirrhosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hearing impairment, Congenit... |
OMIM:619534 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Jaundice, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:71275 |
Infantile Krabbe Disease |
|
Opisthotonus, Optic atrophy, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Prolo... |
ORPHA:206436 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Irregular menstruation |
OMIM:110100 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen... |
ORPHA:79330 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:268150 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Macrotia, Hearing impairment |
ORPHA:163956 |
Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Chole... |
OMIM:613471 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Pancreatic fibrosis, Hepatome... |
OMIM:557000 |
Ogden Syndrome |
|
Macrotia, Microvesicular hepatic steatosis, Hyperbilirubinemia, Jaundice, Torticollis, Recurrent ... |
OMIM:300855 |
Degcags Syndrome |
|
Macrotia, Sensorineural hearing impairment, Hyperbilirubinemia, Abnormal spleen morphology, Hepat... |
OMIM:619488 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Fructose Intolerance, Hereditary |
|
Cirrhosis, Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Elevated hepatic transaminase, Ja... |
OMIM:229600 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Cerebrotendinous Xanthomatosis |
|
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Resting trem... |
ORPHA:909 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:608885 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Jaundice, Polycystic liver disease, Bile duct proliferation, ... |
OMIM:208500 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Brain atrophy, Unconjugated hyperbilirubinemia, Hepatocellular ... |
OMIM:618278 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Unconjugated hyperbilirubinemia, Elevated hepatic transaminase, Hepatic steatosis, Bil... |
OMIM:613658 |
Trisomy 10P |
|
Absent gallbladder, Macrotia, Low voltage EEG, EEG with burst suppression, Abnormal auditory evok... |
ORPHA:171929 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Abnormality of the liver |
ORPHA:464321 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinemi... |
ORPHA:90674 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte... |
ORPHA:1435 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:216400 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Low-set ears, Elevated 8-dehydroc... |
ORPHA:401973 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce... |
ORPHA:90038 |
Yellow Fever |
|
Elevated circulating alanine aminotransferase concentration, Pancreatic hyperplasia, Hyperbilirub... |
ORPHA:99829 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Low-set ears, Hyperbilirubinemia, Prolonged neonatal jaundice, Microtia |
OMIM:210710 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea |
ORPHA:91 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, H... |
ORPHA:572333 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Unconjugated hyperbiliru... |
ORPHA:79277 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia |
ORPHA:330015 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Hypsarrhythmia, Neonatal hyperbilirubinemia, Cerebral atrophy |
OMIM:300896 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Schinzel-Giedion Syndrome |
|
Infantile sensorineural hearing impairment, Cerebral cortical atrophy, Low-set ears, Aganglionic ... |
ORPHA:798 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Decreased serum iron, Incre... |
ORPHA:447 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Primary amenorrhea, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:99413 |
Turner Syndrome |
|
Primary amenorrhea, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:881 |
Mosaic Monosomy X |
|
Primary amenorrhea, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:99228 |
Monosomy X |
|
Primary amenorrhea, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:99226 |
Norrie Disease |
|
Macrotia, Sensorineural hearing impairment, Cerebral cortical atrophy, Optic atrophy, EEG abnorma... |
ORPHA:649 |