| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
| Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
| Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
| Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Candidiasis, Familial, 4 |
|
Onychomycosis, Recurrent vulvovaginal candidiasis |
OMIM:613108 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... |
OMIM:614372 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Immunodeficiency 53 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent otitis media |
OMIM:617585 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
| Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Polyphagia, Hyperlipidemia... |
OMIM:617885 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
| Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71526 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
| Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
| Chondrocalcinosis 2 |
|
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy |
OMIM:118600 |
| Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j... |
OMIM:607850 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nod... |
OMIM:300635 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:620010 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Meningitis, Hepatomegaly, Thrombocytopenia, Aplastic anemia,... |
OMIM:308240 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Obesity, D... |
ORPHA:66628 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, Elevated hepatic ... |
ORPHA:158057 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Colitis,... |
OMIM:617006 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Large f... |
ORPHA:276580 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Obesity, D... |
ORPHA:179494 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Increased resting energy expenditure, Attention deficit hyperactivity disorder,... |
ORPHA:369873 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... |
ORPHA:2457 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Serositis, Glomerulonep... |
ORPHA:567544 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism |
OMIM:614962 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Hepatosplenomegaly, Osteolysis, Decreased liver function, Thrombocytopenia, Portal h... |
ORPHA:98850 |
| Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
| Indolent Systemic Mastocytosis |
|
Splenomegaly, Elevated total serum tryptase, Skin rash, Mastocytosis, Lymphadenopathy, Increased ... |
ORPHA:98848 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Thrombocytopenia, Splenomegaly, Nodular ... |
ORPHA:64743 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... |
ORPHA:572 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... |
ORPHA:99886 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Hypertriglyceridemia, Skin rash, Jaundice, Lymphadenopathy, Increased cir... |
OMIM:603552 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
| X-Linked Lymphoproliferative Disease |
|
Severe Epstein Barr virus infection, T lymphocytopenia, Elevated hepatic transaminase, Hepatosple... |
ORPHA:2442 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Prote... |
OMIM:608709 |
| Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis |
OMIM:613494 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan... |
ORPHA:158061 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Neutropenia, Villous atrophy, Recurrent urinary tract infections, Malab... |
OMIM:209920 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Recurrent otitis media, Au... |
ORPHA:444463 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... |
OMIM:613779 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Erysipelas, Elevated circulati... |
OMIM:214900 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... |
OMIM:616278 |
| African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Chronic infection, Elevated transferrin saturation, Hepatocellular c... |
ORPHA:139507 |
| Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Eczema, Ly... |
OMIM:300988 |
| Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
| Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Abnormal circulating... |
ORPHA:3111 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Increased circulating antibody ... |
OMIM:614470 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Erythroderma, Chronic oral candidiasis, Recurrent herpes, Increased... |
ORPHA:169160 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Meningitis, Hepatomegaly, Absence of lymph node germinal center, Thromboc... |
OMIM:308230 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Glossoptosis, Hepatitis, Skin rash, Arthritis... |
ORPHA:47 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased... |
ORPHA:79085 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints |
ORPHA:50809 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Recurrent infections, Hepatomegaly, Ext... |
OMIM:615285 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria |
OMIM:314000 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis |
OMIM:216950 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Fat malabsorption, Jaundice, Abnormal serum bile acid concentration, Elevated he... |
ORPHA:79303 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu... |
ORPHA:280356 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... |
OMIM:275000 |
| Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Arthritis, Elevated transferrin saturation, Elevated hepatic transaminase, Lym... |
OMIM:604250 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... |
OMIM:614480 |
| Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... |
ORPHA:79234 |
| Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Recurrent staphylococcal infections, Hyponatre... |
ORPHA:167 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated... |
ORPHA:829 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Decreased proporti... |
OMIM:301045 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Elevated hepatic transaminase, Hepatomegaly, Colitis, Erythr... |
ORPHA:540 |
| Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Neutropenia, Bronchiectasis, Recurrent respiratory infections, Hep... |
ORPHA:33110 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... |
OMIM:613502 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... |
ORPHA:319552 |
| Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
OMIM:609655 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... |
OMIM:614963 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia... |
OMIM:278000 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... |
OMIM:245480 |
| Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i... |
OMIM:607594 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
| Carcinoid Syndrome |
|
Facial telangiectasia, Heart murmur, Hepatic necrosis, Elevated hepatic transaminase, Abnormal B-... |
ORPHA:100093 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Hepatic cysts, Abnormality of the pancreas, Cholestatic liver disease, Invasi... |
ORPHA:400 |
| Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Panuve... |
OMIM:607665 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Developmental Dysplasia Of The Hip 2 |
|
Arthritis, Hip osteoarthritis |
OMIM:615612 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Vomiting, Increased circulating free fatty a... |
ORPHA:71212 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decrease... |
OMIM:615238 |
| Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections |
OMIM:619437 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age, Hypogonadism |
OMIM:617119 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
| Thymic Aplasia |
|
Hypocalcemic tetany, Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus ... |
ORPHA:83471 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent bronchitis, Rec... |
OMIM:613501 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Abnormality of body weight, Delayed puberty, Hypoglycemia, Decreased serum... |
ORPHA:314811 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve... |
OMIM:615395 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... |
OMIM:232700 |
| Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... |
ORPHA:97279 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... |
OMIM:619256 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Premature osteoarthritis, Delayed ossification of carpal bones, Hyperextensibility of the finger ... |
OMIM:105835 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal inflammatory response, Thrombocytopenia, Sp... |
ORPHA:158048 |
| Trimethylaminuria |
|
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Spider hemangioma, Cirrhosis, Fulminant hepatitis, Increased circulati... |
ORPHA:2137 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... |
ORPHA:435651 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Chilblains, Membranoproliferative glomerulonephritis, Hepatosplenomegaly, Intes... |
OMIM:619858 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Peptic ulcer, Chronic myelomonocytic leukemia, Tachycardia, ... |
ORPHA:98849 |
| Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
| Graft Versus Host Disease |
|
Fasciitis, Inflammatory abnormality of the eye, Elevated hepatic transaminase, Hepatosplenomegaly... |
ORPHA:39812 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... |
OMIM:605258 |
| Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Crusting erythematous dermatitis, Elevated hepatic transaminase, Ecze... |
ORPHA:37042 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Recurrent bacterial infections... |
OMIM:606843 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Fat malabsorption, Jaundice, Elevated hepatic transaminase, Acholic s... |
OMIM:607765 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Fat mala... |
ORPHA:79302 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, BCGitis, Recurrent respira... |
OMIM:226990 |
| Kienbock Disease |
|
Osteochondritis dissecans, Osteoarthritis, Abnormality of the wrist, Limitation of joint mobility |
ORPHA:97332 |
| Immunodeficiency 102 |
|
Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Recurrent skin infections, Decreased proportio... |
OMIM:301082 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia, Periodontitis |
OMIM:162700 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Sickle Cell Anemia |
|
Increased circulating lactate dehydrogenase concentration, Osteomyelitis, Hemolytic anemia, Eleva... |
ORPHA:232 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneou... |
OMIM:604367 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... |
OMIM:605814 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah... |
OMIM:235555 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent Haemophilus influenzae infections, Absent tonsils, Hepatomegaly, Decreased proportion o... |
ORPHA:276 |
| Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Anemia, Myocarditis, Infectious encephalitis, Hepatic failure, Cardiomyo... |
ORPHA:292 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Cholangiocarcinoma, Hepatomegaly, Hematemesis, Abnormality of the ... |
ORPHA:480520 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, El... |
OMIM:619386 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejec... |
OMIM:201475 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Hepatosplenomegaly, Eosinophilia, Erythroderma, Decreased proportion of CD4-po... |
ORPHA:169154 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Increased circulating ferrit... |
OMIM:618892 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Hepat... |
ORPHA:381 |
| Wolcott-Rallison Syndrome |
|
Abnormality of the liver, Hyponatremia, Exocrine pancreatic insufficiency, Lymphocytosis, Jaundic... |
ORPHA:1667 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent sinusitis, Generaliz... |
OMIM:618986 |
| Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... |
OMIM:619263 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Gastroesophageal reflux, Abnormality of the pancreas, Polycystic liver... |
ORPHA:2924 |
| Whim Syndrome 2 |
|
Chronic neutropenia, Recurrent gingivitis, Severe infection |
OMIM:619407 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Jaundice, Neutrophilia, Elevated hepa... |
ORPHA:91547 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Severe infection, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis... |
OMIM:304790 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Hyperbilirubinemia, Rotor Type |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237450 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Meningitis, Hepatomegaly, Hyponatremia, Thromb... |
OMIM:603553 |
| Malaria |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De... |
OMIM:613070 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:890 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Chronic infection, Norm... |
ORPHA:75564 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Myo... |
ORPHA:36234 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent oral herpes, Neutropenia ... |
OMIM:619220 |
| Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... |
OMIM:193670 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jiroveci... |
OMIM:301078 |
| Primary Biliary Cholangitis |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Hepatocellular carcinoma, Celiac dis... |
ORPHA:186 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent sinusitis, Recurrent ... |
OMIM:613493 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Vomiting, Diarrhea, Failure to thrive, Hypoglycemia |
OMIM:606528 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Periportal fib... |
ORPHA:101330 |
| Avian Influenza |
|
Conjunctivitis, Leukopenia, Myelitis, Infectious encephalitis, Hepatitis, Elevated hepatic transa... |
ORPHA:454836 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Infectious encephalitis, Increased VLDL cholestero... |
OMIM:267700 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Congestive heart failure, Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Splenome... |
OMIM:269920 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Systemic lupus erythemato... |
ORPHA:439167 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Intestinal atresia, En... |
OMIM:243150 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... |
ORPHA:183675 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Reduced antigen-specific T cell proliferation, Abnormal B cell cou... |
ORPHA:331206 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... |
OMIM:300636 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... |
ORPHA:567548 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Fat malabsorption, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased ... |
OMIM:214950 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Recurrent respiratory i... |
OMIM:615214 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis, Mental deterioration |
OMIM:617900 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Villous atrophy, Jaundice, Ele... |
ORPHA:567983 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
| Hemochromatosis, Type 4 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Hepatic steatosis, Increased circulating ferr... |
OMIM:606069 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, He... |
OMIM:618999 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
| Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent... |
OMIM:616740 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Fat malabsorption, Hepatocellular carcinoma, Intrahepatic chole... |
OMIM:601847 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... |
OMIM:618805 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Ele... |
ORPHA:171 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Persistent patent ductus venosus, Decreased... |
OMIM:601466 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
| Lipase Deficiency, Combined |
|
Lipodystrophy, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Heart block, Hepatomegaly, Thrombocytopenia, Aplastic anemia, Sple... |
ORPHA:398124 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
| Mody |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Abnormal circulating insulin concentration, ... |
ORPHA:552 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infec... |
OMIM:202700 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Fat malabsorption, Jaundice, Rickets, Epistaxis, Osteopenia, Hepatomegaly, Cholelithia... |
OMIM:211600 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis |
OMIM:614380 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
| Mastocytosis |
|
Hypotension, Splenomegaly, Telangiectasia of the skin, Mastocytosis, Arrhythmia, Hypercalcemia, H... |
ORPHA:98292 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
| Caroli Disease |
|
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:53035 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Recurrent bacterial infections, Abnorm... |
ORPHA:2688 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
| Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Eosinophilia |
OMIM:234350 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis, Mental deterioration |
OMIM:613002 |
| Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Thrombocyto... |
OMIM:300972 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Vomiting, Enterocolitis, Diarrhea, Weight loss, Steatorrhea, Abnormal blo... |
ORPHA:95427 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... |
OMIM:611182 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, Polyphagia |
ORPHA:177910 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated alkaline phosphatase of bone origin, Hypercholesterolemia, Cirrhosis, Hepatic failure, D... |
OMIM:616828 |
| Hepatocellular Carcinoma |
|
Hypotension, Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Thrombocytopenia, Abnorma... |
ORPHA:88673 |
| Felty Syndrome |
|
Pericarditis, Osteolysis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomega... |
ORPHA:47612 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:615559 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Persistent EBV viremia, Severe varicella zoster infection, Chronic oral candid... |
OMIM:615387 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Increased tota... |
OMIM:174050 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated ... |
OMIM:619232 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Elevated circulating alanine aminotransferase concentration, I... |
OMIM:611881 |
| Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... |
OMIM:613673 |
| Immunodeficiency 61 |
|
Recurrent sinusitis, Recurrent otitis media, Frequent Giardia lamblia infestation, Recurrent bact... |
OMIM:300310 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... |
OMIM:614921 |
| Renal Glucosuria |
|
Glycosuria, Polyphagia, Polydipsia |
OMIM:233100 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Granuloma, Sclerosing cholangitis, Interface hepatitis, Ele... |
ORPHA:562639 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, ... |
ORPHA:79312 |
| Immunodeficiency 91 And Hyperinflammation |
|
Increased circulating lactate dehydrogenase concentration, Maculopapular exanthema, Extrapulmonar... |
OMIM:619644 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... |
ORPHA:181393 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating acylcarnitine con... |
ORPHA:26791 |
| Immunodeficiency 56 |
|
Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Pneumocystis jirovecii pneu... |
OMIM:615207 |
| Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
| Crigler-Najjar Syndrome |
|
Infectious encephalitis, Memory impairment, Cognitive impairment |
ORPHA:205 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Sepsis |
ORPHA:289916 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Anemia, Hepatic fibrosis, Erythroderma, Elevated hepatic transaminase, Eczema, Con... |
OMIM:615895 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormality of B cell physiology, Cerebral vasculitis, Increased circulating guanosine concentrat... |
OMIM:613179 |
| Aspergillosis |
|
Osteomyelitis, Bronchiectasis, Hepatitis, Unusual CNS infection, Invasive pulmonary aspergillosis... |
ORPHA:1163 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci... |
OMIM:619707 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Congestive heart failure, Hepatic steatosis, Myocardial infarction, Increased LDL c... |
OMIM:615703 |
| Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Increased ... |
ORPHA:3202 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
| Huntington Disease |
|
Weight loss, Abnormal circulating cholesterol concentration, Choking episodes, Agitation, Polypha... |
ORPHA:399 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... |
ORPHA:79477 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
| Sepsis In Premature Infants |
|
Hypotension, Anemia, Enterocolitis, Increased circulating interleukin 6 concentration, Severe inf... |
ORPHA:90051 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Anemia, Splenomegaly, Hepatic fibrosis, Cirrhosis, Increased sarcoplasmic g... |
ORPHA:264580 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Pulmonary arterial hypertension, Elevated hepatic transaminase, Hyperp... |
OMIM:616299 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Fat malabsorption, Elevat... |
ORPHA:811 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int... |
OMIM:614377 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Generalized osteoporosis, Abnormal... |
ORPHA:391487 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Thrombocytopenia, Pneu... |
OMIM:614700 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Anemia, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Eleva... |
OMIM:613313 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Wilson Disease |
|
Anemia, Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatos... |
ORPHA:905 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Failure to thrive, ... |
OMIM:606407 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:608594 |
| Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Recurrent respiratory infections, Recurrent broncho... |
OMIM:617303 |
| Poikiloderma With Neutropenia |
|
Conjunctivitis, Leukopenia, Telangiectasia, Skin rash, Recurrent bronchopulmonary infections, Rec... |
OMIM:604173 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
| Legionnaires Disease |
|
Endocarditis, Hypotension, Hepatitis, Jaundice, Pancreatitis, Recurrent pharyngitis, Lymphopenia,... |
ORPHA:549 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Increased circulating ferriti... |
OMIM:601775 |
| Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagi... |
OMIM:615547 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
| Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis |
OMIM:114550 |
| Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
| Immunodeficiency 87 And Autoimmunity |
|
Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Hepat... |
OMIM:619573 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Elevated circulating acylcarniti... |
ORPHA:228305 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased sarcoplasmic glycogen, Hepatocellula... |
ORPHA:370 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Rod-cone dystrophy, Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Malabsorption, Recurrent infections, Thrombocytopenia, Neutropenia, Folate-responsive... |
OMIM:229050 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... |
OMIM:150550 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Dysphagia, Pyloric stenosis, Elevated hepatic transaminase, Elevated circulating cr... |
OMIM:613327 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:255120 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Micro... |
OMIM:619013 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Hepatic failure, Reticulocytopenia, Villous atrophy, Malabsorption, Hyperbilirubinemia, R... |
OMIM:557000 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Pancytopenia, Hepatic steatosis, Increased blood urea nitrogen, Hepatomegaly, El... |
OMIM:617872 |
| Glutathione Synthetase Deficiency |
|
Reduced glutathione synthetase level, Neutropenia, Hemolytic anemia |
OMIM:266130 |
| Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Severe varicella zoster infection, R... |
OMIM:616433 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Vomiting, Increased circulating free fatty acid level, Diarrhea, Failur... |
OMIM:610768 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections |
OMIM:607676 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia |
OMIM:615986 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Arthropa... |
OMIM:208250 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Colitis, Recurrent viral infect... |
ORPHA:911 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections |
OMIM:608106 |
| Postinfectious Vasculitis |
|
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... |
ORPHA:48435 |
| Asherman Syndrome |
|
Decreased fertility in females, Abnormal placenta morphology, Secondary amenorrhea, Chronic infec... |
ORPHA:137686 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Anemia, Decreased methionine synthase activity, Megaloblastic anemia, C... |
OMIM:277380 |
| Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Menin... |
OMIM:614379 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:269700 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine kinase conce... |
OMIM:600649 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Gastroesophageal reflux, Pulmonary arterial hypertension, Decreased met... |
OMIM:614857 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Rec... |
OMIM:618048 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Unco... |
OMIM:618278 |
| Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Hype... |
OMIM:619381 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Recurrent viral infections, Severe B lymphoc... |
OMIM:603554 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De... |
OMIM:212140 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Hyperglycinemia, Pancreatitis, Eczema, Pancytopenia, Hyperammonemi... |
OMIM:606054 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233710 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... |
ORPHA:98870 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De... |
ORPHA:99901 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, F... |
ORPHA:35878 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Bronchiectasis, Hepatocellular carcinoma, Elevated ... |
OMIM:613490 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H... |
OMIM:277900 |
