Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent respiratory infections, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Hypercalcemia |
ORPHA:33111 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... |
OMIM:619868 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... |
OMIM:619658 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly |
ORPHA:2123 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Lymphadenopathy, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof... |
OMIM:613752 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumocystis jirovecii pn... |
OMIM:615206 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Meningitis, Recurrent skin infections, Sepsis |
OMIM:618847 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Recurrent herpes, Eczema, Recurrent... |
OMIM:607271 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Pancreatitis, Hypermagnesemia |
OMIM:145980 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia |
OMIM:145001 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Pancreatitis, Hypermagnesemia |
OMIM:145981 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Pancreatic islet cell adenoma, Hypercalcemia, Mediastinal lymphadenopathy... |
ORPHA:97289 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly |
OMIM:239200 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Sepsis |
OMIM:267500 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... |
ORPHA:158061 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ... |
OMIM:607594 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia |
OMIM:246700 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia, Splenomegaly, Hepatomegaly |
OMIM:618440 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Mastocytosis |
|
Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia |
ORPHA:2591 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... |
OMIM:603553 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Pancreatitis, Hypermagnesemia |
OMIM:600740 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Abnormal lymphatic vessel morphology,... |
ORPHA:90362 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hepatocellular Carcinoma |
|
Anemia, Abnormality of the liver, Hyponatremia, Liver abscess, Hepatic necrosis, Jaundice, Hypoka... |
ORPHA:88673 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Multiple Myeloma |
|
Anemia, Lymphadenopathy, Hypercalcemia, Elevated circulating creatinine concentration, Hyperprote... |
ORPHA:29073 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Hypercalcemia |
OMIM:241500 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... |
OMIM:241600 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent fungal infections, Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreas... |
ORPHA:572 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Alg6-Cdg |
|
Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia |
ORPHA:79320 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hepatitis, Normocytic anemia, Hyperkalemia, Hypercalcemia, Macrocytic anemia, Eosi... |
ORPHA:199299 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ... |
OMIM:619774 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia |
ORPHA:251004 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... |
OMIM:251880 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia, Pancreatitis |
ORPHA:405 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Mpi-Cdg |
|
Portal hypertension, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia |
ORPHA:79319 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concen... |
OMIM:242150 |
Thymic Aplasia |
|
Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningitis, Pneumonia, Sepsi... |
ORPHA:83471 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
ORPHA:540 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat... |
OMIM:308230 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Hepatomegaly, Hypoalbuminemia |
OMIM:602579 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... |
ORPHA:2070 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Intestinal lymphan... |
OMIM:226300 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
X-Linked Agammaglobulinemia |
|
Anemia, Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils,... |
ORPHA:47 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Hepatic s... |
ORPHA:247585 |
Monosomy 13Q34 |
|
Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
Wolcott-Rallison Syndrome |
|
Abnormality of the liver, Lymphocytosis, Jaundice, Hyperbilirubinemia, Iron deficiency anemia, Hy... |
ORPHA:1667 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... |
ORPHA:529799 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... |
ORPHA:567548 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,... |
ORPHA:95409 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Cholestasis, Hepatomegaly, Elevated circulating creatinine concentration, Thrombocytopeni... |
OMIM:608104 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hepatomegaly, Macrovesicular hepa... |
OMIM:613070 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Abnormality of the liver, Hyperhomocystinemia, Hepatocellular carcinoma, Elev... |
ORPHA:88618 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Portal hypertension, Hypoalbuminemia |
ORPHA:367 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hepatitis, Hyperammonemia, Cholestasis, Leuko... |
ORPHA:292 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent opportunistic infections, Lack of T cell function, Decreased circulating total IgM, Dec... |
ORPHA:35078 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hypocalcemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
Addison Disease |
|
Thymoma, Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Thiam... |
ORPHA:85138 |
Grfoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Neoplasm of the pancreas... |
ORPHA:97261 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Hypocalcemia |
ORPHA:53 |
Vipoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Neoplasm of the liver,... |
ORPHA:97282 |
Ppoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Intrahepatic cholestas... |
ORPHA:97278 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Hypoproteinemi... |
OMIM:235255 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Somatostatinoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Intrahepatic cholestas... |
ORPHA:97283 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane... |
OMIM:600802 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... |
ORPHA:31824 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Abno... |
ORPHA:37042 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Multiple Endocrine Neoplasia, Type I |
|
Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia |
OMIM:131100 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Avian Influenza |
|
Leukopenia, Hepatitis, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated ... |
ORPHA:454836 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hypoproteinemia, Hep... |
ORPHA:1655 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, ... |
OMIM:617303 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:601678 |
Glucagonoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Normochromic anemia, I... |
ORPHA:97280 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Abnormal circulating lipid concentration, Hepatit... |
ORPHA:186 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hy... |
OMIM:617156 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Anemia, Hypoalbuminemia |
OMIM:174900 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypophosphatemia, Hypercalcemia, Pancreatitis |
ORPHA:99880 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypophosphatemia, Hypercalcemia, Pancreatitis |
ORPHA:143 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Extrahepatic cholestasis, Abnormality of pancreas physiology, Insulinoma, Hypercalcemia |
ORPHA:276152 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Jaundice, Elevated circulating creatine kinase conce... |
ORPHA:26793 |
Wilson Disease |
|
Cirrhosis, Anemia, Hemolytic anemia, Jaundice, Decreased circulating ceruloplasmin concentration,... |
OMIM:277900 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Anemia, Hemolytic anemia, Hepatosplenomegaly, Hepatic steatosis, Acute pancreat... |
OMIM:619487 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Extramedullary hematopoiesis, Hypocalcemia, Pancytopenia, Hepatosplen... |
OMIM:259720 |
Bacterial Toxic-Shock Syndrome |
|
Hepatitis, Peritonitis, Increased circulating metamyelocyte count, Hypocalcemia, Elevated circula... |
ORPHA:36234 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Hepatic fibrosis, Splenomegaly, Cirrhosis, Abnormality of the pancreas, Abnor... |
OMIM:222470 |
Mirage Syndrome |
|
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen |
OMIM:617053 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Hypercalcemia, Cervical lymphadenopathy |
ORPHA:653 |
Zollinger-Ellison Syndrome |
|
Jaundice, Extrahepatic cholestasis, Hypercalcemia |
ORPHA:913 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Anemia, Leukocytosis, Hypoalbuminemia |
ORPHA:67 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Pearson Syndrome |
|
Anemia, Hyperalaninemia, Abnormality of the liver, Hypophosphatemia, Hypokalemia, Hypocalcemia, M... |
ORPHA:699 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Double Outlet Right Ventricle |
|
Aplasia/Hypoplasia of the thymus, Hypocalcemia |
ORPHA:3426 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Cholangiocarcinoma, Hepatocellula... |
ORPHA:171 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoalbuminemia |
OMIM:618329 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal ly... |
OMIM:235510 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Cirrhosis, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia,... |
ORPHA:14 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Sarcoidosis |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Lym... |
ORPHA:797 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Abnormality of the liver, Increased circulating NT-proBNP concentrat... |
ORPHA:85443 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra... |
ORPHA:89842 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hepatic calcification, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Hepatic steatosis, Thrombocytosis, Hepatomegaly, Hypocholesterolemia, Hypoalbum... |
OMIM:212065 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Diffuse hepatic steatosis, Cholestasis |
ORPHA:746 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
Igg4-Related Thyroid Disease |
|
Sclerosing cholangitis, Pancreatic fibrosis, Hypocalcemia, Retroperitoneal fibrosis |
ORPHA:64744 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Neoplasm of the pancreas, Hypercalcemia, Insulinoma |
ORPHA:652 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre... |
OMIM:619381 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia |
ORPHA:79324 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Hepatosplenomegaly, Bone marrow hypocellularity, Thrombocytopenia, Hypoalbumi... |
ORPHA:505248 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Elevated circulating creatinine concentration, Jaundice, Hypokalemia, Reticulocytosis... |
ORPHA:99826 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Macrocytic anemia |
OMIM:212750 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia... |
ORPHA:90363 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Hypocalcemia |
OMIM:228100 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Anemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatic steatosis... |
OMIM:613658 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Skin rash... |
ORPHA:542323 |
Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Lymphopenia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Lymphangioma |
ORPHA:2136 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:667 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Enlarged tonsils, Hypocalcemia, Pancytopenia, Elevated circul... |
ORPHA:2785 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Biliary cirrhosis, Abnormal circulating lipid concentration, Abnormal circulating fat... |
ORPHA:2298 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Elevated circulating alpha-fetoprotein concentration, Hepatic steatosis, Hep... |
OMIM:619991 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypercalcemia, Cholelithiasis, Elevated circulating cre... |
ORPHA:904 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia, Lymphopenia |
ORPHA:2306 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79443 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Hypoalbuminemia |
ORPHA:79396 |
Cartilage-Hair Hypoplasia |
|
Anemia, Abnormality of the pancreas, Hepatomegaly, Hypocalcemia, Neutropenia |
ORPHA:175 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia |
ORPHA:163979 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Pancr... |
ORPHA:544482 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Williams-Beuren Syndrome |
|
Portal hypertension, Hypercalcemia |
OMIM:194050 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Hypoalbuminemia |
ORPHA:79076 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... |
ORPHA:466650 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypocalcemia |
OMIM:300712 |
Smith-Lemli-Opitz Syndrome |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Cholestatic liver disease, Hypocholesterolemia, Eleva... |
OMIM:270400 |
Gitelman Syndrome |
|
Hypokalemia, Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hyp... |
ORPHA:358 |
Sotos Syndrome |
|
Prolonged neonatal jaundice, Acute lymphoblastic leukemia, Hypercalcemia |
ORPHA:821 |
Cranioectodermal Dysplasia 1 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hepatic cysts, Hypocalc... |
OMIM:218330 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Jaundice, Intrahepatic bile duct dilatation, Hype... |
OMIM:619534 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Abnormality of the tonsils, Cholelithiasis, Thrombocytope... |
ORPHA:567 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany |
ORPHA:93325 |
Digeorge Syndrome |
|
Anemia, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Abnormality of the thymus, Cho... |
OMIM:188400 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Splenomegaly, Eosinophilia, Hepatomegaly |
ORPHA:75565 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Hypocalcemia, Hepatosplenomegaly, Hepatic steatosis, Cholestasis, Portal hypert... |
OMIM:619503 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the thymus, Hypocalcemia, Lymphopenia |
OMIM:214800 |
Johanson-Blizzard Syndrome |
|
Exocrine pancreatic insufficiency, Hypocalcemia, Increased VLDL cholesterol concentration, Choles... |
OMIM:243800 |
Pmm2-Cdg |
|
Hepatic fibrosis, Abnormal liver parenchyma morphology, Impaired neutrophil chemotaxis, Reduced t... |
ORPHA:79318 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
|
OMIM:618877 |
Early-Onset Generalized Limb-Onset Dystonia |
|
|
ORPHA:256 |
Dystonia 33 |
|
|
OMIM:619687 |