| Caspase 8 Deficiency |
|
Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate... |
OMIM:607271 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... |
OMIM:300400 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... |
OMIM:619824 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... |
ORPHA:859 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... |
OMIM:618987 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Abnormality of the kidney... |
OMIM:155100 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... |
OMIM:301082 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometro... |
ORPHA:849 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... |
OMIM:273800 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired rist... |
OMIM:231200 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Absent peripheral lymph nodes in presence of infection, Abnormal... |
ORPHA:98813 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal di... |
ORPHA:563609 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia |
OMIM:222100 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
| Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, ... |
OMIM:620210 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... |
ORPHA:276580 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... |
ORPHA:276575 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Increased circu... |
ORPHA:2298 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A... |
OMIM:300310 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lym... |
ORPHA:3226 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco... |
OMIM:232700 |
| Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr... |
ORPHA:182050 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... |
OMIM:314050 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... |
ORPHA:231393 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced... |
OMIM:614699 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Abnormality of the menstrual cycle, Sp... |
ORPHA:721 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
| Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia, Abnormal urine carbohydrate level |
ORPHA:2056 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic ... |
OMIM:614700 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
| Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu... |
OMIM:269840 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Failure to thrive in infancy, T lymphocytopenia, Decreased circu... |
OMIM:619510 |
| Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he... |
OMIM:277480 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... |
ORPHA:71529 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... |
ORPHA:2134 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... |
OMIM:209950 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Senior-Loken Syndrome 4 |
|
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia |
OMIM:606996 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... |
OMIM:613496 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Weigh... |
OMIM:143880 |
| Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism, Prolonged bleeding time, Abnormality of the lymphatic system, Dysphagia |
ORPHA:638 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,... |
OMIM:246200 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Enamel hypoplasia, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenome... |
ORPHA:507 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:603552 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia,... |
OMIM:615986 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Subcu... |
ORPHA:2969 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... |
ORPHA:100024 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Abscess, Anemia, Decreased circulating total IgM, Panniculitis, ... |
OMIM:615758 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... |
OMIM:615559 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity |
OMIM:620195 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla... |
OMIM:275350 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosp... |
OMIM:612526 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... |
OMIM:613101 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Macrothrombocytopenia, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, ... |
OMIM:300972 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Weigh... |
ORPHA:90362 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Increased RBC distributi... |
OMIM:187900 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... |
OMIM:209050 |
| Preeclampsia |
|
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... |
ORPHA:275555 |
| Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... |
OMIM:615577 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Atrophic scars, Lymphopenia, Cerebral hemorrhage |
OMIM:182410 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Abnormal testis morphology, Polycystic ovaries, Decreased c... |
ORPHA:100 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
| Bloom Syndrome |
|
Adipose tissue loss, Decreased circulating IgG level, Decreased proportion of CD4-positive T cell... |
ORPHA:125 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Increased circulating IgA level, Abnormal circulating IgM... |
OMIM:618048 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Periglomerular fibrosis, Tubular l... |
OMIM:619468 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis... |
OMIM:300755 |
| Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal... |
ORPHA:79237 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... |
ORPHA:169154 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Abnormal bleeding, Anemia ... |
ORPHA:75564 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:610947 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Glomerulonephritis, Increased circulating IgA level, Hematuria, Thrombocytopenia |
OMIM:314000 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Metrorrhagia, Epistaxis, Impaired ADP-in... |
OMIM:614074 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Lipoatrophy, Insulin resistance, Decreased circulating complement C3... |
ORPHA:79087 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:606407 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... |
OMIM:601399 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Decreased circulating ... |
OMIM:619774 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:1980 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Abnormality of the menstrual ... |
ORPHA:90308 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycem... |
OMIM:175700 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... |
OMIM:618982 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... |
ORPHA:276608 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... |
OMIM:616176 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... |
ORPHA:33355 |
| Acute Promyelocytic Leukemia |
|
Anorexia, Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Leukocytosis, Lymphadenopathy, ... |
ORPHA:520 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Nephropathy, Prolonged bleed... |
OMIM:301000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Subarachnoid hemorrhage, Increased circulating IgE level, Increased circulating IgG... |
OMIM:243700 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:619737 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
| Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Decreased circulating total IgM, Dysphagia, Decreased circulating IgG level, D... |
OMIM:620040 |
| Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Hydrocele testis, Decreased circul... |
ORPHA:79330 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... |
OMIM:618495 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circul... |
OMIM:304790 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Increased... |
ORPHA:169160 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Small scrotum, Small for gestational age, Hypoglycemia, Hypospad... |
OMIM:607143 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Anemia, Neutropenia, Failure to thrive... |
ORPHA:79312 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Fasciitis, Auto... |
ORPHA:331235 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... |
OMIM:300635 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellit... |
OMIM:618858 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
| Myotonic Dystrophy 2 |
|
Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Type II diabetes mellitus, Elevat... |
OMIM:602668 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... |
OMIM:226990 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary... |
OMIM:616963 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... |
ORPHA:276 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Prolonged bleeding a... |
ORPHA:98879 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Obesity, Renal cyst, Micropenis, Stage 5 chronic kidney disease, Hypogonadism, Polydipsia |
OMIM:615994 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hy... |
ORPHA:824 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hypospadias, Jaundice, Micronodular c... |
OMIM:301045 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Leukocytosis, Weight loss, Agitation, Oral avers... |
ORPHA:134 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Prolonged bleeding after dental extraction, Epistaxis, Post-partum hemor... |
OMIM:614076 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy... |
OMIM:301078 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc... |
OMIM:153670 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with dif... |
ORPHA:525731 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Decreased CD4:CD8 ratio, R... |
OMIM:608233 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ... |
OMIM:606176 |
| Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
| Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Hy... |
ORPHA:905 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... |
OMIM:608594 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Acute pancreatitis, Lipodystrophy, Elevated he... |
OMIM:269700 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Congenital contracture |
OMIM:619036 |
| Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona... |
OMIM:615547 |
| Lambert Syndrome |
|
Inguinal hernia, Hypospadias, Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circ... |
ORPHA:1296 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Reduced natural killer cell activity, Diffuse alveolar hemorrhag... |
OMIM:616050 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis... |
OMIM:210900 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri... |
OMIM:616740 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Mediastinal... |
ORPHA:169105 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Cryptorchidism, Stage 5 chronic k... |
OMIM:617575 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... |
OMIM:193400 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Hyperphosphaturia... |
ORPHA:2088 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Weight loss, Neoplasm of the live... |
ORPHA:2126 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Cellulitis, Decreased circulating IgA level, Decreased proportio... |
OMIM:614878 |
| Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... |
ORPHA:3318 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Nephr... |
OMIM:215250 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... |
OMIM:619151 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia |
ORPHA:177910 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Anemia, Leukopeni... |
ORPHA:77259 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Petechiae, Abnormality of tumor ... |
ORPHA:540 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... |
OMIM:187800 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypopla... |
OMIM:617053 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Hyperhidro... |
ORPHA:108 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hyp... |
ORPHA:514 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Huntington Disease |
|
Abnormal libido, Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol u... |
ORPHA:399 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, ... |
ORPHA:391673 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Decreas... |
OMIM:618183 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... |
OMIM:613677 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... |
ORPHA:398069 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen... |
OMIM:193670 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia |
ORPHA:3327 |
| 3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral renal agenesi... |
OMIM:614576 |
| Refractory Anemia |
|
Normocytic anemia, Abnormal bleeding, Macrocytic anemia, Anemia of inadequate production, Erythro... |
ORPHA:98826 |
| Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Hematuria, Internal ... |
ORPHA:69077 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... |
OMIM:619644 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
| Boutonneuse Fever |
|
Renal insufficiency, Petechiae, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased ... |
ORPHA:83313 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Type I diabetes mellitus, Failure to thrive, Panhypogammaglobulinemia |
ORPHA:251009 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Ar... |
OMIM:603471 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:261229 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Hemolytic-uremic syndrome, Failure to thrive, Thrombocytopenia, Amelogenesis imperf... |
OMIM:614727 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... |
ORPHA:99885 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, Addictive alcohol use, Hyperglycemia, Hypopituitarism, Hypothy... |
ORPHA:90065 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, U... |
ORPHA:221139 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Abnormal immunoglobuli... |
OMIM:242900 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic ... |
OMIM:251000 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Choles... |
ORPHA:440713 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... |
OMIM:615122 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... |
ORPHA:33543 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Polydipsia, Failure to thrive, Diabetes insipidus |
OMIM:304800 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Increased circulating antibody le... |
OMIM:247800 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Polydipsia, Failure to thrive |
OMIM:125800 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopath... |
OMIM:617591 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... |
OMIM:222300 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Prolonged bleeding time, Splenomegal... |
ORPHA:809 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
| Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H... |
OMIM:616222 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
| Roifman Syndrome |
|
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Decreased circulating antibody leve... |
ORPHA:353298 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Failure to thrive, Diabetes mellitus, Female hypogonadism, Decre... |
OMIM:208900 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... |
ORPHA:228402 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, ... |
OMIM:619013 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Hyperimidodipeptiduria, Splenomegaly, Anemia, Increased circulating anti... |
OMIM:170100 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia, Thrombocytopenia, Decr... |
OMIM:616638 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Cryptorchidism, Hypospadias, Decreased circulating antibody level |
OMIM:616910 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level, Failure to thrive, Decreased pr... |
OMIM:615767 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal panc... |
ORPHA:2849 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Microscopic hema... |
ORPHA:1830 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
| Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Chondrocalcinosis, Increased circulati... |
OMIM:263800 |
| Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Abnormal circulating insuli... |
ORPHA:293964 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Hypogonadism, Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... |
OMIM:266900 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Cellulitis, Abnormality of the... |
ORPHA:47 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... |
OMIM:598500 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... |
OMIM:601457 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis, Oligomenorrhea |
OMIM:613877 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Splenomeg... |
ORPHA:79083 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Elbow contracture, Knee flexion contracture, Decrea... |
OMIM:618162 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... |
OMIM:241200 |
| Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Renal insufficiency, Polyuria, Xerostomia, Nephrolithiasis, Hypo... |
OMIM:617671 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... |
OMIM:605309 |
| Lassa Fever |
|
Abnormal bleeding, Menometrorrhagia, Jaundice, Oliguria, Increased circulating IgM level, Dysphagia |
ORPHA:99824 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia... |
ORPHA:319218 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula... |
OMIM:615238 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... |
OMIM:610644 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
| Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Neoplasm of... |
ORPHA:744 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... |
ORPHA:508533 |
| Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Acute lymphoblastic leukemia, Type II di... |
OMIM:606593 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, ... |
OMIM:194350 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Hy... |
ORPHA:263455 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... |
OMIM:618165 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Anemia, Leukopenia, Attention deficit... |
OMIM:620184 |
| Renal Hypoplasia, Bilateral |
|
Small for gestational age, Proteinuria, Microscopic hematuria, Decreased glomerular filtration ra... |
ORPHA:97362 |
| Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl... |
ORPHA:64743 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hemolytic anemia |
OMIM:177000 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Diabetes mellitus, Liver abscess, Cholangiti... |
ORPHA:183675 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Increased level of hippuric acid in urine, Cerebellar h... |
OMIM:606054 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia, Purpura |
ORPHA:529 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentration, Decre... |
OMIM:301080 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, ... |
ORPHA:464329 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Glucose intolerance... |
OMIM:235200 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hyperaldosteronism, Increased circulating r... |
OMIM:612780 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Anorexia, Megaloblastic anemia, D... |
ORPHA:90045 |
| Macs Syndrome |
|
Prolonged bleeding time, Hypergonadotropic hypogonadism, Cryptorchidism, Urethral stenosis, Decre... |
OMIM:613075 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism... |
OMIM:249270 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Increased circulating IgA level, Leuko... |
OMIM:617099 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... |
ORPHA:227990 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ... |
ORPHA:289916 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
| Transaldolase Deficiency |
|
Abnormality of the kidney, Hepatosplenomegaly, Anemia, Abnormality of the clitoris, Cirrhosis, Th... |
ORPHA:101028 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Abnormality of the thy... |
ORPHA:449432 |
| Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... |
ORPHA:158029 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Small for gestational age, Nephrogenic diabetes insipidu... |
OMIM:208085 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urinary potassium,... |
OMIM:613090 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of the tonsils, Abnormality... |
ORPHA:229717 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated... |
ORPHA:435660 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Int... |
OMIM:227810 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Hepatitis,... |
OMIM:619381 |
| Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurre... |
ORPHA:274 |
| Stt3B-Cdg |
|
Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Cryptorchidism, Male hypogonadism, Hepatic... |
OMIM:615381 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... |
OMIM:612925 |
| Wolfram Syndrome 2 |
|
Abnormal bleeding, Neurogenic bladder, Diabetes mellitus, Primary amenorrhea, Decreased circulati... |
OMIM:604928 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
| Snakebite Envenomation |
|
Abnormal bleeding, Epistaxis, Neuromuscular dysphagia, Intracranial hemorrhage, Pseudobulbar para... |
ORPHA:449285 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... |
OMIM:616033 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
| Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Cellulitis, Lymphadenopathy, Anem... |
ORPHA:47612 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for ge... |
ORPHA:79644 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amen... |
ORPHA:2348 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Subcutaneous hemorrhage, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decrease... |
OMIM:603585 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anemia, Leukopenia, Hematuria... |
ORPHA:91547 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Increased circulating interleukin 6 concentration, Small for ges... |
ORPHA:90051 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Hyperactivity, Pancreat... |
OMIM:617052 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency... |
OMIM:212065 |
| Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Dysphagia, Failure to thrive, Abnormal repetitive manneris... |
DECIPHER:45 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... |
ORPHA:91139 |
| Malaria |
|
Anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:673 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... |
ORPHA:247585 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Polyuria, Renal salt wasting, I... |
OMIM:601678 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:243500 |
| Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level, Azoospermia, Infertility, Diabetes insipidus, Amenorrhea |
ORPHA:1445 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... |
OMIM:308700 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Thyroiditis, Weight loss, Iron deficiency anemia, Prolonged prothrombin time, ... |
OMIM:212750 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:241600 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Jaundice, Lymphad... |
OMIM:603553 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of live... |
OMIM:619463 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:229050 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational... |
OMIM:227645 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Abnormal vagina morphology, ... |
ORPHA:2123 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder, Small for gestational age |
OMIM:300076 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr... |
ORPHA:79240 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive in infancy, Fluctuating splenomegaly, Fluctuatin... |
OMIM:610377 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Decreased circulating compleme... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Decreased circulating compleme... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Decreased circulating compleme... |
OMIM:612926 |
| Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Hepat... |
ORPHA:400 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Sma... |
OMIM:227650 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational... |
OMIM:227646 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Hyp... |
OMIM:619750 |
| Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bruising susceptibility... |
ORPHA:101096 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Abnormal immunoglo... |
ORPHA:90159 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... |
ORPHA:210136 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Nephrotic syndr... |
OMIM:617303 |
| Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:470 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol... |
ORPHA:251004 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Camptodactyly, Decreased circulating T4 concen... |
OMIM:608104 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of specific antibody r... |
ORPHA:79324 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... |
OMIM:613385 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... |
ORPHA:85212 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia |
ORPHA:290 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Splenomegaly, Leukocytosi... |
OMIM:615688 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Pancreatitis, Thrombocy... |
ORPHA:27 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Obesity, Renal cyst, Hypercalciuria, Nephrocalcinosis, De... |
ORPHA:369837 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Recurrent urinary tract infections, Inguinal hernia, Intermitten... |
OMIM:612541 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop... |
OMIM:614520 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Failure to thrive, Small f... |
OMIM:557000 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion contracture, Hyperinsuline... |
OMIM:613327 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hem... |
OMIM:185070 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Wagro Syndrome |
|
Proteinuria, Nephroblastoma, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Hypop... |
OMIM:612469 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Brucellosis |
|
Liver abscess, Anorexia, Hyperhidrosis, Leukopenia, Abnormality of the liver, Increased circulati... |
ORPHA:1304 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Inguinal hernia, Biliary hyperplasia, ... |
ORPHA:83617 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu... |
OMIM:235400 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Neutropenia, Failur... |
OMIM:614857 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
| Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Abnormal bleeding, Hemorrhagic ovarian cyst, Splenic rupture, Abnormal... |
ORPHA:335 |
| Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Hyperhidrosis, Acute tubulointerstitia... |
ORPHA:340 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Intraventricular hemorrhage, Enuresis nocturna, Weight loss, Decreas... |
ORPHA:420741 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... |
ORPHA:508 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Ketonuria |
OMIM:615453 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level,... |
ORPHA:275 |
| Q Fever |
|
Hepatomegaly, Anorexia, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Abn... |
ORPHA:781 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Nephrotic syndrome, ... |
ORPHA:29073 |
| Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Cholecystitis, Ecchymosis, ... |
ORPHA:99827 |
| Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia |
OMIM:618624 |
| H Syndrome |
|
Histiocytosis, Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Ly... |
ORPHA:168569 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... |
OMIM:203800 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational... |
OMIM:600901 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Renal neoplasm, Premature ovarian ins... |
ORPHA:79474 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Hypospadias, Large for gestational age, Cryptorchidism, Neonatal hypoglycemia, Dec... |
ORPHA:457485 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Splenomegaly, Micron... |
OMIM:606003 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal bleeding, Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Anemia, ... |
OMIM:603467 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Agam... |
OMIM:209920 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia, Dysphagia |
OMIM:615750 |
| Luscan-Lumish Syndrome |
|
Aggressive behavior, Irregular menstruation, Obesity, Polycystic ovaries, Polyphagia |
OMIM:616831 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha... |
ORPHA:1572 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Increased circulating interleukin 6 concentrati... |
ORPHA:160 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
| Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Polycythemia, Abnormality of the endocrine system, Primary adre... |
ORPHA:2905 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... |
OMIM:251880 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Ret... |
ORPHA:99826 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... |
OMIM:158350 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, Nephrotic s... |
ORPHA:93552 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenit... |
ORPHA:96181 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, ... |
ORPHA:2137 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundice, Umbilical hernia, Failure t... |
OMIM:251290 |
| Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
| Stuve-Wiedemann Syndrome 2 |
|
Camptodactyly, Thrombocytopenia, Dysphagia |
OMIM:619751 |
| Shigellosis |
|
Hypoglycemia, Failure to thrive in infancy, Anorexia, Abscess, Hemolytic-uremic syndrome, Leukocy... |
ORPHA:810 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Weight loss, Anemia, Hematuria, Decreased circulating complement C3 co... |
ORPHA:90060 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Trisomy 18P |
|
Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... |
ORPHA:88 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte proliferation, Ab... |
ORPHA:99867 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Microcytic anemia, Adipose tissue loss, Elevat... |
OMIM:256040 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, C... |
ORPHA:398124 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule mor... |
ORPHA:188 |
| Secondary Short Bowel Syndrome |
|
Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Poly... |
ORPHA:95427 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... |
ORPHA:2686 |
| Yellow Fever |
|
Abnormal bleeding, Acute pancreatitis, Neutrophilia, Anuria, Renal insufficiency, Increased circu... |
ORPHA:99829 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anorexia, Lacticaciduria, Compulsive behaviors, Abnormal temper tantr... |
ORPHA:3008 |
| Sengers Syndrome |
|
3-Methylglutaconic aciduria, Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
| Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Cog4-Cdg |
|
Cirrhosis, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... |
OMIM:210250 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Dicarboxylic aciduria, Cerebellar hemorrhage, Prolonged prothrombin time... |
ORPHA:99901 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Ag... |
ORPHA:293987 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Generalized hypoplasia of dental enamel, Odontodysplasia, Grayish enamel... |
ORPHA:49042 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria |
OMIM:300971 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic a... |
ORPHA:35858 |
| Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
| Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenom... |
ORPHA:84064 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Rift Valley Fever |
|
Abnormal bleeding, Anorexia, Hematemesis, Jaundice, Hepatitis, Retinal hemorrhage, Anemia, Hematu... |
ORPHA:319251 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... |
OMIM:616216 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... |
OMIM:226300 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Increased circulating IgM level, Failure to thrive, Reduced natural killer cel... |
OMIM:242860 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Joint contracture of the... |
OMIM:214110 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell prolifer... |
OMIM:616433 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... |
ORPHA:480520 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypo... |
OMIM:613989 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, D... |
ORPHA:79259 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Abnormality of the ureter, Delayed puberty, Hypercholes... |
ORPHA:819 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... |
OMIM:214500 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes m... |
ORPHA:79086 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal bleeding, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
| Autosomal Agammaglobulinemia |
|
Neutropenia, Hepatitis, Agammaglobulinemia, Cellulitis, Failure to thrive |
ORPHA:33110 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:412 |
| Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abnormal proportio... |
ORPHA:443811 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia, Am... |
OMIM:617475 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephr... |
OMIM:276700 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality ... |
ORPHA:85443 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Hyperlipidemia, Portal fibrosis, Hepatic fib... |
ORPHA:369 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Thrombocytopenia, Flexion contracture, Leukopenia, Prolonged prothrombin time,... |
OMIM:616271 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Fu... |
ORPHA:391487 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dyspareunia, Renal insufficiency, Dysuria, Abnormality of neutrophil... |
ORPHA:36426 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Prolonged prothrombin time, Hyperechogenic pancreas... |
OMIM:617941 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Small for gestational age, Hypospadias, Cryptorchidis... |
OMIM:301056 |
| Tenorio Syndrome |
|
Enuresis, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612924 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, H... |
OMIM:602579 |
| Papa Syndrome |
|
Type I diabetes mellitus, Increased circulating antibody level, Proteinuria, Lymphadenopathy |
ORPHA:69126 |
| Drug-Induced Lupus Erythematosus |
|
Petechiae, Hematuria, Anemia, Decreased circulating complement C3 concentration, Decreased circul... |
ORPHA:231111 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Port... |
ORPHA:171 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Ureteral duplication, Inguinal hernia, ... |
OMIM:600001 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Diabetes insipidus, Petechiae, Splenomegaly, Prolonged neonatal jaundice, Hypothyro... |
OMIM:225750 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial nephritis... |
ORPHA:289390 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Gingival bleeding, Ecchymo... |
OMIM:203300 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc... |
ORPHA:71 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,... |
OMIM:613990 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphade... |
OMIM:615934 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue,... |
ORPHA:1901 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... |
ORPHA:79078 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... |
OMIM:613070 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Diabetes mellitus, Anuria, B... |
ORPHA:544482 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk... |
ORPHA:99828 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital th... |
OMIM:618886 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ... |
ORPHA:64744 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Dark yellow urine, Atretic gallbladder, Splenomegaly, Ja... |
ORPHA:30391 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abno... |
ORPHA:79329 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Oroticaciduria, Stage 5 chronic kidney disease, Anemia, Leukopenia, T... |
OMIM:222700 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Anorexia, Leukocytosis, Jau... |
ORPHA:20 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers |
OMIM:616744 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Hypohidrosis, Lymphadenopathy, Thrombocytopenia, Amelogenesis imperf... |
OMIM:612783 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cholestasis, Tubuloi... |
OMIM:124000 |
| Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Ketonuria, Hyperhidrosis, Glycosuria, Hyperglycemia, Acute kidn... |
ORPHA:466677 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, D... |
ORPHA:280365 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... |
OMIM:204690 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... |
OMIM:619004 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
| Zika Virus Disease |
|
Increased circulating IgM level, Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:448237 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
| Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Excessive bleeding after a venipuncture, Leukocytosis... |
ORPHA:319213 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Hepatosplenomegaly, Anemia,... |
ORPHA:505248 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Small for gestational age, Hypospadias, Increased mean platelet volume, Splenomegal... |
OMIM:222470 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, I... |
OMIM:615816 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Prolonged bleeding time, Unilateral cryptorchidism, Congenital d... |
OMIM:618280 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hem... |
OMIM:613812 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Hem... |
OMIM:615846 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Renal insufficiency, Eosinophilia, Abnormality of the kidney, Abscess,... |
ORPHA:228123 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Restlessness, External genital hypoplasia, Aggressive behavior, Crypto... |
ORPHA:251028 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| 1P36 Deletion Syndrome |
|
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of ... |
ORPHA:1606 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Prolong... |
ORPHA:71212 |
| Overlap Myositis |
|
Diabetes mellitus, Abnormality of the kidney, Leukopenia, Abnormality of connective tissue, Dysph... |
ORPHA:206572 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Hematuria,... |
OMIM:617021 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Decreased circulating antibody level |
ORPHA:99811 |
| Wilson Disease |
|
Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Atypical or... |
OMIM:277900 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic cysts, A... |
ORPHA:284 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Cryoglobulinemia, Purpura, Gastrointestinal... |
ORPHA:33226 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Severe temper tantrums, Thrombocytopenia, Aggressive behavior |
OMIM:617710 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Peritonitis, Hemoglobinuria, Microangiopat... |
ORPHA:90038 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Increased circulating a... |
ORPHA:77261 |
| Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Renal salt was... |
ORPHA:275761 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia,... |
ORPHA:537 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Ureteral duplication, Large for gestational age, Cryptorchidism, Bruising susc... |
OMIM:610733 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Jaundice, Chroni... |
ORPHA:1667 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Anhidrosis, Splenomegaly, Lymphadenopathy, Amelogenesis imperfect... |
ORPHA:169090 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Persistence of hem... |
OMIM:260400 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Tufted Angioma |
|
Petechiae, Thrombocytopenia, Hyperhidrosis, Anemia, Purpura |
ORPHA:1063 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Immunodeficiency 9 |
|
Failure to thrive, Hypoplasia of the thymus, Amelogenesis imperfecta |
OMIM:612782 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... |
ORPHA:447 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Inguinal hernia, Unilateral renal agenesis, Aggressive... |
ORPHA:96121 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity |
OMIM:615812 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemi... |
ORPHA:79319 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... |
ORPHA:449400 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia |
OMIM:152700 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Entero... |
OMIM:307200 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Failure to thrive in infancy, Hypospadias, Hemolytic-uremic syndrome, Crypto... |
OMIM:611209 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath... |
OMIM:274150 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Holocarboxylase Synthetase Deficiency |
|
Anorexia, Organic aciduria, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
| Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility, Small for gestational age |
OMIM:616229 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemia, Decreased body weig... |
OMIM:608013 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hypoplasia of the uter... |
OMIM:601186 |
| Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Adnp Syndrome |
|
Recurrent urinary tract infections, Inguinal hernia, Urinary incontinence, Aggressive behavior, O... |
ORPHA:404448 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anemia, Cystathioninuria, Me... |
OMIM:277380 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Hemat... |
ORPHA:99147 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Abnormal bleeding, Pancytopenia, Epistaxis, Thrombocytopenia, Sple... |
ORPHA:167 |
| Tempi Syndrome |
|
Abnormality of the kidney, Intracranial hemorrhage, Increased circulating IgG level, Increased he... |
ORPHA:284227 |
| Werner Syndrome |
|
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:277700 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt... |
ORPHA:1775 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Failure to th... |
OMIM:251110 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Zttk Syndrome |
|
Absent gallbladder, Polyuria, Unilateral renal agenesis, Flexion contracture, Horseshoe kidney, F... |
OMIM:617140 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel... |
ORPHA:2457 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Umbilical hernia, Lymphopenia, ... |
ORPHA:2268 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
| Immunodeficiency 56 |
|
Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Failure to thrive, Pa... |
OMIM:615207 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... |
OMIM:251100 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Anemia, ... |
ORPHA:292 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Flexion contracture, Xerostomia, Oliguria, Dysphagia |
ORPHA:220393 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt... |
ORPHA:3322 |
| Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... |
ORPHA:49566 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr... |
OMIM:156200 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestas... |
ORPHA:79303 |
| Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Absent iso... |
OMIM:615468 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
| Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptodactyly, Failure... |
ORPHA:79325 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
| Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:1929 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Subconju... |
OMIM:617718 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Nijmegen Breakage Syndrome |
|
Hyperactivity, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Recurrent urinary tr... |
OMIM:251260 |
| Say-Barber-Miller Syndrome |
|
Cryptorchidism, Transient hypogammaglobulinemia of infancy, Elbow flexion contracture, Abnormal T... |
ORPHA:3132 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri... |
OMIM:618278 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... |
ORPHA:31150 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... |
ORPHA:244242 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Dysuria, Decreased circulating antibody level, Decreased s... |
OMIM:618131 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Enlarged tonsils, Proximal renal tubular acidosis, ... |
ORPHA:2785 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Cryptorchidism, Attention deficit hyperactivity... |
OMIM:619005 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Epistaxis, Peritonitis, Oliguri... |
ORPHA:727 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Recurrent urinary tract infections, Decreased response to growth hormone stimulati... |
OMIM:615873 |
| Gaucher Disease |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hepatitis, Dysphagia, A... |
ORPHA:355 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hyperhidrosis... |
ORPHA:2330 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Inguinal hernia, Membranoproliferative glomerulonephritis, Microscopic hematuria, M... |
OMIM:619525 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Increased urinary glycerol, Hyperglycerolemia, C... |
OMIM:307030 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Weaver Syndrome |
|
Inguinal hernia, Cryptorchidism, Hydrocele testis, Camptodactyly, Umbilical hernia, Joint contrac... |
OMIM:277590 |
| Vici Syndrome |
|
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgG2 level, Decreased T... |
OMIM:242840 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibo... |
OMIM:248500 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior... |
OMIM:300322 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnormal c... |
OMIM:615980 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
| Monosomy 13Q34 |
|
Metrorrhagia, Epistaxis, Insulin resistance, Fetal pyelectasis, Obesity, Hematochezia, Prolonged ... |
ORPHA:96168 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Hypoglycemia, Small for gestational age, Hypospadias, Microvesicular ... |
OMIM:220111 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Hepatitis, Thyroiditis, Lymphadenopathy, Weight loss, Tubuloin... |
ORPHA:139402 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Eosinophilia, Pancreatic cysts, Leukocytosis, Dilatation... |
OMIM:274000 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A... |
ORPHA:534 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Tongue thrusting, Anemia, Self-injurious behavior, S... |
ORPHA:261323 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ve... |
ORPHA:444077 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral ref... |
ORPHA:567 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Flexion contracture, Hepatosplenomegaly, Prolonged prothrombin... |
ORPHA:367 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
| Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement deficiency, ... |
ORPHA:449427 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Thrombocytopenia, Abnormal renal corticomedullary differentiat... |
OMIM:617397 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:542323 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone marrow hyp... |
ORPHA:508542 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnormal granulocyte morphology, Abno... |
ORPHA:98907 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Aplastic anemia, Renal agenesis, Hypogonadism, Micropenis, Thromb... |
OMIM:300514 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif... |
ORPHA:464321 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... |
OMIM:254900 |
| Sialuria |
|
Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time, Attention deficit hyperactivity dis... |
ORPHA:3166 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level |
OMIM:617425 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrho... |
ORPHA:974 |
| Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Abnormality of the hypothalamus-... |
ORPHA:84 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Failure to thrive, Hypereosinophilia, Increased circulating IgE ... |
OMIM:256500 |
| Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Lymphadenopathy, Anemia, He... |
ORPHA:333 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Hypoplastic female external genitalia, Decreased circulating IgA level, Decreased c... |
OMIM:606056 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Enamel hypoplasia, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... |
OMIM:232220 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iron concentratio... |
OMIM:619991 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Glomerulonephritis, Abscess, ... |
ORPHA:36234 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Jaundice, Prolonged prothrombin time, Cirrhosis, Failure to thrive |
OMIM:617049 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Nocturia, Re... |
ORPHA:230 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin time, Hepatic bridging f... |
OMIM:618641 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Thrombocytopenia, Cervical lymphadenopathy, ... |
ORPHA:50918 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Megaloblastic anemia, Hemolytic-ure... |
ORPHA:79282 |
| Monosomy 18Q |
|
Bilateral cryptorchidism, Hypothyroidism, Micropenis, Failure to thrive, Slender build, Secondary... |
ORPHA:1600 |
| Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
| Whim Syndrome |
|
Lymphadenitis, Cellulitis, Abnormal neutrophil morphology, Decreased circulating antibody level, ... |
ORPHA:51636 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Cryptorc... |
OMIM:616737 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... |
OMIM:614946 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
| Netherton Syndrome |
|
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu... |
ORPHA:634 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Corneal scarring, Atypical sca... |
OMIM:263700 |
| Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Flexion contracture, Clitoral hypoplasia, Labial hypoplasia, Annular... |
OMIM:147791 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hepatocellular carcinoma, Multiple small medullary renal cysts, Renal hypop... |
OMIM:118450 |
| Avian Influenza |
|
Lymphopenia, Hepatitis, Leukopenia, Acute kidney injury, Thrombocytopenia |
ORPHA:454836 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... |
ORPHA:2072 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice, Hepatitis, Hepatic necros... |
ORPHA:90062 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Hiatu... |
OMIM:122470 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch... |
ORPHA:562639 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Tick-Borne Encephalitis |
|
Anorexia, Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM le... |
ORPHA:297 |
| Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hypoglycemia, Prolonged prothrombin time |
OMIM:616483 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Small for gestational age, Thrombocytopenia |
OMIM:618775 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Bile duct proliferation, M... |
OMIM:618329 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Inguinal hernia, Decreased circulating antibody level, Umbilical hernia, Frequ... |
OMIM:617062 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia, Dysphagia |
ORPHA:261250 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Vitreou... |
OMIM:620185 |
| Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... |
ORPHA:46059 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Abnormality of the thyroid gland, Jaundice,... |
ORPHA:186 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Abnormality of the kidney, Orchitis, Retroperitoneal fibrosis, Increas... |
ORPHA:449563 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connectiv... |
ORPHA:79277 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:52368 |
| Dubowitz Syndrome |
|
Hyperactivity, Inguinal hernia, Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic... |
OMIM:223370 |
| Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... |
ORPHA:797 |
| Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi... |
OMIM:619743 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Thrombocytopenia, Ur... |
OMIM:305000 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidn... |
ORPHA:2136 |
| Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Hypogonadism, Decrea... |
OMIM:601675 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Conjugated hyperbilirubinemia, Hyperlipid... |
ORPHA:567983 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
| Noonan Syndrome 9 |
|
Cryptorchidism, Prolonged prothrombin time, Hydroureter |
OMIM:616559 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, D... |
ORPHA:536 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Intrahepatic cholestasi... |
OMIM:614921 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Inguinal hernia, Cryptorchidism, Bone marrow hypocellularity, Atten... |
ORPHA:2308 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Small for gestational age, Scarri... |
ORPHA:99843 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Dysphagia, Thrombocytopenia, Aggressive behavior |
ORPHA:572798 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal lymphocytic tubulitis, Anorexia, Renal interstitial edema, Sterile pyuri... |
ORPHA:91500 |
| Vici Syndrome |
|
Renal tubular acidosis, Decreased circulating IgG level, Ureteral atresia, Decreased circulating ... |
ORPHA:1493 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cryptorchidism, Diabetes mellitus, Hypertriglyceridemia |
ORPHA:536532 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Thrombocytopenia, Ac... |
ORPHA:235 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormality of the kidney, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, A... |
ORPHA:464343 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Primary am... |
OMIM:157640 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Cholera |
|
Decreased urine output, Abnormality of renal excretion, Hypoglycemia, Acute kidney injury |
ORPHA:173 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged prothrombin... |
OMIM:214950 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Rectal abscess, Ty... |
ORPHA:436252 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Renal agen... |
ORPHA:124 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pancreatitis, Pineal cyst, Abnorma... |
ORPHA:98908 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Abnormal response to corticotropin releasing... |
ORPHA:189427 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Thrombocytopenia |
OMIM:112200 |
| Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Leukocytosis, Hyperhidrosis, Agitation, Dysphagia, Thrombocyto... |
ORPHA:94093 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithiasis, Xanthelasma... |
OMIM:232200 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Hypothyroidism |
ORPHA:254346 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Abnormal bleeding, Recurrent urinary tract infections, Glomerulonephritis... |
ORPHA:2968 |
| Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Cholestasis, Prolonged prothrombin time, Portal fibrosis, Failure to thrive, Hepatic steatosis |
OMIM:614300 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... |
OMIM:301072 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Hypoglycemia, Intraventricular hemorrhage, Aminoaciduria, Prolonged pr... |
OMIM:619055 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Inguinal hernia, Hiatus hernia, Incisional hernia, Cigarette-paper scars... |
ORPHA:287 |
| Trichothiodystrophy |
|
Multiple joint contractures, Cryptorchidism, Absence of subcutaneous fat, Increased mean corpuscu... |
ORPHA:33364 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Mucopolysacchari... |
ORPHA:175 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Anorex... |
OMIM:181000 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia... |
ORPHA:51 |
| Japanese Encephalitis |
|
Neutrophilia, Anorexia, Elbow flexion contracture, Increased circulating IgM level, Increased cir... |
ORPHA:79139 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Anemia, Intracranial hemorrhage, Micropenis, Hyd... |
ORPHA:163979 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Cryptorchidism, Abnormalit... |
ORPHA:861 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary... |
ORPHA:363618 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Maternal diabetes, Cryptorchidism, Jaundice, Microves... |
OMIM:300855 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Camptodactyly of finger, Aggressive behavior, Ectopic k... |
OMIM:607872 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Decreased circulating antibody level, Atrophic scars, Enamel hypoplasia, Failure to thr... |
ORPHA:79396 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Adrenal hypoplasia, Morga... |
OMIM:613177 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add... |
ORPHA:31826 |
| Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, T... |
OMIM:253270 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Hypoplasia of the thymus |
OMIM:617022 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Small for gestational age, Limb joint contracture, Nodular regenerative hyperplasia... |
ORPHA:404454 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Aplasia of the uterus, Axial malrotation of the kidn... |
ORPHA:3320 |
| Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Abnormal dental enamel morpho... |
ORPHA:1896 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Thrombocytopenia |
ORPHA:457351 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia, Elbow flex... |
OMIM:612394 |
| Leptospirosis |
|
Hepatomegaly, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Retinal hemorrhage, Lymphade... |
ORPHA:509 |
| Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hyperhidrosis, Hepatosplenomegaly, Contract... |
ORPHA:96123 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Intestinal bleeding, Bone marrow hypocellularity, Anemia |
OMIM:612199 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal... |
ORPHA:487796 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99228 |
| Monosomy X |
|
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99226 |
| Turner Syndrome |
|
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:881 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Small scrotum, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavio... |
OMIM:620330 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia |
OMIM:620072 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the liver, Failure to thrive, Prolonged prothrombin time, Hepatocellular carcinoma |
ORPHA:88618 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomeru... |
OMIM:619127 |
| Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Acanthocytosis, Prolonged pr... |
ORPHA:14 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Pollakisuria, Attention ... |
ORPHA:647 |
| Colchicine Poisoning |
|
Renal insufficiency, Leukocytosis, Oliguria |
ORPHA:31824 |
| Ivic Syndrome |
|
Leukocytosis, Rectovaginal fistula, Thrombocytopenia |
ORPHA:2307 |
| Distal Deletion 19P |
|
Keloids, Umbilical hernia, Vaginal hernia, Decreased circulating antibody level |
ORPHA:96129 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
| Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney... |
ORPHA:439232 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hepatoc... |
OMIM:232240 |
| Roberts Syndrome |
|
Progressive flexion contractures, Cryptorchidism, Thrombocytopenia, Long penis, Knee flexion cont... |
ORPHA:3103 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increase... |
OMIM:264090 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... |
OMIM:105650 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone... |
ORPHA:3455 |
| Ivic Syndrome |
|
Leukocytosis, Rectovaginal fistula, Thrombocytopenia |
OMIM:147750 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Enamel hypoplasia, Increased renal... |
OMIM:211900 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Abnormal bl... |
OMIM:163950 |
| Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Osteogenesis Imperfecta |
|
Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Cerebral hemorrhag... |
ORPHA:666 |
| Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Anhidrosis, Oliguria, Acute kidney injury, Thrombocytopenia |
ORPHA:466650 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... |
ORPHA:261537 |
| Fibular Hemimelia |
|
Renal dysplasia, Thrombocytopenia |
ORPHA:93323 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... |
ORPHA:261552 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Enthesitis, Renal phosphate wasting, Tooth abs... |
ORPHA:289176 |
| Sponastrime Dysplasia |
|
Small for gestational age, Hypospadias, Precocious puberty, Decreased circulating antibody level,... |
ORPHA:93357 |
| Viss Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Inguinal h... |
OMIM:619472 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Failure to thrive in infancy, Bilateral renal dysplasia, Unilateral renal age... |
ORPHA:500150 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Oroticaciduria, Failure to thrive, Prolonged prothrombin time |
OMIM:311250 |
| Nk-Cell Enteropathy |
|
Hematochezia, Increased T cell count |
ORPHA:263665 |
| Cardiogenic Shock |
|
Oliguria |
ORPHA:97292 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Hypercholesterole... |
ORPHA:391665 |
