Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... |
OMIM:615285 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Spl... |
OMIM:226990 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Elevated circulating creatinine concen... |
OMIM:617872 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated circulati... |
OMIM:308240 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... |
OMIM:616860 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:616050 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Failur... |
OMIM:614372 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Anemia |
OMIM:613092 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro... |
ORPHA:98870 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegal... |
OMIM:612840 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino... |
OMIM:618805 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane... |
OMIM:209950 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent cutaneous fungal i... |
OMIM:613953 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... |
ORPHA:572 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, In... |
OMIM:603553 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne... |
ORPHA:398063 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy... |
ORPHA:169079 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Meningitis, Hypereosinophilia, Chronic tinea infecti... |
OMIM:212050 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le... |
ORPHA:811 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hyperuricemia |
OMIM:261750 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Sepsis, Hyperammonemia, Hepatitis... |
ORPHA:292 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Cryptococcal meningitis, Weight loss, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... |
OMIM:619013 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... |
ORPHA:2169 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Decreased circulating beta-2-microglobulin level,... |
OMIM:241600 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H... |
ORPHA:83471 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia |
ORPHA:543 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc... |
ORPHA:824 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Hypoalbuminemia... |
OMIM:608104 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Recurrent herpes, Decreased proportion of naive T cells, Chronic oral candidiasis, R... |
ORPHA:276 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia,... |
OMIM:613179 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Recurrent infections, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Recu... |
OMIM:226300 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Increased mean corpuscular vol... |
OMIM:619774 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... |
ORPHA:300298 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... |
OMIM:603554 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
Xanthinuria, Type Ii |
|
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia |
OMIM:603592 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:3222 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
Ménétrier Disease |
|
Helicobacter pylori infection, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypop... |
ORPHA:2494 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Sepsis, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, ... |
ORPHA:37042 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Recurrent viral i... |
OMIM:618048 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Alg6-Cdg |
|
Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Fai... |
ORPHA:79320 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... |
ORPHA:79319 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Steatorrh... |
ORPHA:71 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hyperlipidemia, Recurrent infections, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Alg1-Cdg |
|
Hypoalbuminemia, Sepsis, Decreased liver function, Recurrent infections |
ORPHA:79327 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Hyperechogenic pancreas, Pancreatic steato... |
OMIM:617052 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperin... |
OMIM:602579 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... |
ORPHA:75563 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... |
ORPHA:529799 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:613502 |
Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Elevated circulating creatine kinase concentration, Abscess, ... |
ORPHA:36234 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibo... |
OMIM:607594 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Recurrent bronchopulmonary infectio... |
OMIM:617303 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly... |
OMIM:619487 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:608184 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... |
OMIM:274150 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni... |
OMIM:612692 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbumi... |
ORPHA:67 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbumin... |
ORPHA:367 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... |
ORPHA:2688 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren... |
OMIM:612562 |
Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Hepatomegaly, Autoimmune thromb... |
OMIM:614470 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas... |
ORPHA:171 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Elevated hepatic transaminase, Recurrent ear infe... |
ORPHA:79324 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... |
ORPHA:199299 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Failure ... |
ORPHA:14 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ... |
ORPHA:101330 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Failure to thrive, Hepatomeg... |
OMIM:618278 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Cirrhos... |
OMIM:127550 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypoglycemia, Thrombocytopenia, Hyperkalemia, S... |
OMIM:617053 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia |
ORPHA:261222 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Invasive fungal infection, Increased T cell count, Recurrent mycobacterial infections, Severe vir... |
ORPHA:98813 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymph... |
OMIM:616005 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusi... |
OMIM:240500 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... |
OMIM:243700 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thromb... |
OMIM:613496 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... |
OMIM:222470 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Failure to thrive, Hepatomegaly, Pneumocystis carinii... |
OMIM:308230 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas... |
OMIM:614817 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Recurrent bacter... |
OMIM:300310 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Pancytopenia, Recurrent urinary tract infection... |
OMIM:613658 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Primary Biliary Cholangitis |
|
Portal hypertension, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Jaundice, Hepatic f... |
ORPHA:186 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... |
ORPHA:169090 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... |
OMIM:116920 |
Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Severe cytomegalovirus infection, C... |
ORPHA:158048 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis... |
OMIM:212065 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral in... |
ORPHA:169154 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Recurrent viral infections, Sepsis, Hepati... |
OMIM:619573 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Recurrent infections, ... |
ORPHA:90363 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased... |
ORPHA:89842 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glyc... |
ORPHA:369 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... |
OMIM:618329 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia |
ORPHA:172 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Ab... |
ORPHA:85443 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... |
ORPHA:79230 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... |
ORPHA:167 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Chronic infection, In... |
ORPHA:139507 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... |
ORPHA:470 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro... |
ORPHA:443811 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia |
ORPHA:20 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Hepato... |
OMIM:612541 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,... |
OMIM:615160 |
Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Incr... |
ORPHA:79237 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating c... |
ORPHA:99826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo... |
OMIM:619055 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Sepsis, Recurrent infections, Hypoalbuminemia, Failure to thrive, Anemia |
ORPHA:79396 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:203800 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Oculoskeletodental Syndrome |
|
Splenomegaly, Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411543 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Recurre... |
OMIM:603903 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:505248 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous cand... |
OMIM:147060 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Decreased ... |
OMIM:615468 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Hepatocell... |
ORPHA:79259 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, An... |
ORPHA:90321 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... |
OMIM:604290 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy... |
OMIM:601495 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233710 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ... |
OMIM:251000 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ... |
OMIM:608233 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive, Eosinophilia, Recurrent st... |
OMIM:615816 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233690 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Hypoalbuminemia... |
OMIM:618183 |
Castleman Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jaundice, Weight loss, D... |
ORPHA:160 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent streptococcal infections, Recurrent staphylococca... |
OMIM:607676 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Liver abs... |
ORPHA:183675 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neut... |
OMIM:606054 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... |
ORPHA:6 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Hepatocellular carcinom... |
ORPHA:465508 |
Eisenmenger Syndrome |
|
Brain abscess, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic m... |
ORPHA:97214 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia |
ORPHA:1187 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Hypoalbuminemia, Cachexia |
OMIM:610965 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Splenomegaly, Increased circulati... |
OMIM:235200 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Cholangitis, Leukocytosis, BCGosis, ... |
OMIM:619652 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Increased ... |
OMIM:223900 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:306400 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia |
ORPHA:47 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Vici Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Elevated circulating creatine kinase concent... |
OMIM:242840 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
OMIM:300661 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Hereditary Xanthinuria |
|
Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ... |
ORPHA:293978 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... |
ORPHA:221139 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Recurrent infections, Aplastic anemia, Hypocholesterolemia |
OMIM:223370 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de... |
OMIM:270400 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617729 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati... |
OMIM:619534 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Recurrent infections, Hypocholesterolemia |
OMIM:244450 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased mean platel... |
OMIM:617718 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Tarp Syndrome |
|
Failure to thrive, Extramedullary hematopoiesis |
ORPHA:2886 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Hypoalbuminemia |
OMIM:251300 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Recurrent ... |
ORPHA:84064 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Abscess, Hypoglycemia, Leukocytosis, Peritonitis, Abn... |
ORPHA:810 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Normochromic anemia |
ORPHA:97282 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hyperuricemia |
ORPHA:93111 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Meningitis, Recurrent bacterial infections, Hepatomegaly |
ORPHA:36412 |
Glucagonoma |
|
Normochromic anemia, Hypercalcemia, Acanthocytosis |
ORPHA:97280 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... |
ORPHA:48435 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Sepsis, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron conce... |
OMIM:619991 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Hepatomegaly |
OMIM:248500 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Cockayne Syndrome |
|
Splenomegaly, Hyperuricemia |
ORPHA:191 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Perianal... |
OMIM:301074 |
Kenny-Caffey Syndrome, Type 2 |
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Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive |
OMIM:614736 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Idiopathic Bronchiectasis |
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Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Tyrosinemia, Type I |
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Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
Orthostatic Hypotension 2 |
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Hypoglycemia, Anemia |
OMIM:618182 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... |
ORPHA:2968 |
Whim Syndrome |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
Pseudohypoparathyroidism Type 1B |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Timothy Syndrome |
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Hypocalcemia |
OMIM:601005 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
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Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Celiac Disease, Susceptibility To, 1 |
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Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia |
OMIM:212750 |
Dahlberg-Borer-Newcomer Syndrome |
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Hypocalcemia |
ORPHA:1563 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Ppoma |
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Hypercalcemia |
ORPHA:97278 |
Cystic Fibrosis |
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Recurrent Aspergillus infections, Recurrent respiratory infections, Elevated hepatic transaminase... |
ORPHA:586 |
Cholera |
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Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Infantile Systemic Hyalinosis |
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Recurrent bacterial infections, Failure to thrive, Steatorrhea |
ORPHA:2176 |
Complement Factor I Deficiency |
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Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Zollinger-Ellison Syndrome |
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Hypercalcemia |
ORPHA:913 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Grfoma |
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Hypercalcemia |
ORPHA:97261 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... |
ORPHA:244 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Hypouricemia |
OMIM:252160 |
Oncogenic Osteomalacia |
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Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Multiple Endocrine Neoplasia Type 2 |
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Hypercalcemia |
ORPHA:653 |
Sarcoidosis |
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Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen... |
ORPHA:797 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia |
ORPHA:75565 |
Complement Component 5 Deficiency |
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Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Hypouricemia |
OMIM:252150 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Splenomegaly, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Multiple Endocrine Neoplasia Type 4 |
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Hypercalcemia |
ORPHA:276152 |
Goodpasture Syndrome |
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Weight loss, Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Sanjad-Sakati Syndrome |
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Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Hyponatremia, Neonatal sepsis, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hype... |
ORPHA:90790 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Congenital Disorder Of Glycosylation, Type Ig |
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Hypocalcemia |
OMIM:607143 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Pearson Syndrome |
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Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok... |
ORPHA:699 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly |
ORPHA:1655 |
Pseudohypoparathyroidism Type 1C |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Medullary Thyroid Carcinoma |
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Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Hypocalcemia |
OMIM:618476 |
Autosomal Dominant Hypocalcemia |
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Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Double Outlet Right Ventricle |
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Hypocalcemia |
ORPHA:3426 |
Multiple Endocrine Neoplasia Type 1 |
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Hypercalcemia |
ORPHA:652 |
Williams Syndrome |
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Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... |
ORPHA:904 |
Mitochondrial Trifunctional Protein Deficiency |
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Hypocalcemia |
ORPHA:746 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Osteopetrosis With Renal Tubular Acidosis |
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Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Recurrent respiratory infections, Hypoalbuminemia |
OMIM:614748 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Pseudohypoparathyroidism Type 1A |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Chromomycosis |
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Recurrent bacterial infections |
ORPHA:182 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia |
ORPHA:544482 |
Isotretinoin-Like Syndrome |
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Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Cartilage-Hair Hypoplasia |
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Hypocalcemia, Anemia, Neutropenia |
ORPHA:175 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Reduced thyroxin-binding globulin, Insulin resistance, Hyperinsuli... |
ORPHA:79318 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Ethylene Glycol Poisoning |
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Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Williams-Beuren Syndrome |
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Hypercalcemia |
OMIM:194050 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia |
ORPHA:667 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Igg4-Related Thyroid Disease |
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Hypocalcemia |
ORPHA:64744 |
Gitelman Syndrome |
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Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
Mosaic Trisomy 9 |
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Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
Sotos Syndrome |
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Acute lymphoblastic leukemia, Hypercalcemia |
ORPHA:821 |
Velocardiofacial Syndrome |
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Hypocalcemia |
OMIM:192430 |
Hennekam Syndrome |
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Splenomegaly, Lymphopenia, Hypocalcemia |
ORPHA:2136 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Diaphanospondylodysostosis |
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Abnormal liver lobulation |
OMIM:608022 |
Craniofacioskeletal Syndrome |
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Hypocalcemia |
OMIM:300712 |
22Q11.2 Deletion Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia |
ORPHA:567 |
Cranioectodermal Dysplasia 1 |
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Hypocalcemia |
OMIM:218330 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections |
ORPHA:99104 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Digeorge Syndrome |
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Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia |
OMIM:188400 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent respiratory infections, Failure to thrive, Recurrent bacterial infections, Recurrent in... |
ORPHA:2273 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections |
ORPHA:99103 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Hypocalcemia |
OMIM:620330 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia |
ORPHA:642 |
Charge Syndrome |
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Lymphopenia, Hypocalcemia |
OMIM:214800 |
Johanson-Blizzard Syndrome |
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Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |