Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic oral candidiasis, ... |
OMIM:615592 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of... |
OMIM:619281 |
Adult Idiopathic Neutropenia |
|
Fever, Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthou... |
ORPHA:2688 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Immunodeficiency 32B |
|
Fever, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchie... |
OMIM:226990 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Elevated circula... |
OMIM:619644 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis |
OMIM:616871 |
Macrophage Activation Syndrome |
|
Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypert... |
ORPHA:158061 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Fever, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophili... |
ORPHA:486 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Primary Erythromelalgia |
|
Leukemia, Hypothermia |
ORPHA:90026 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Congenital Enterovirus Infection |
|
Fever, Abnormal macrophage morphology, Skin rash, Hypothermia, Myocarditis, Leukocytosis, Thrombo... |
ORPHA:292 |
Immunodeficiency 69 |
|
Fever, Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leuko... |
OMIM:618963 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia |
OMIM:615026 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decrease... |
OMIM:615206 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculo... |
ORPHA:540 |
Acute Lung Injury |
|
Fever, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated... |
ORPHA:178320 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... |
ORPHA:3243 |
Spontaneous Periodic Hypothermia |
|
Skin rash, Hypothermia |
ORPHA:29822 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypothermia |
OMIM:614654 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hyperglycinemia, Hypothermia, Hypertaurinemia |
OMIM:245400 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, P... |
OMIM:618986 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:95717 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Small for gestational age, Pneumonia, Elevated circulating ... |
ORPHA:26793 |
Meningococcal Meningitis |
|
Fever, Skin rash, Hypothermia, Elevated circulating C-reactive protein concentration, Infectious ... |
ORPHA:33475 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Normo... |
OMIM:618775 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:95716 |
Timothy Syndrome |
|
Hypocalcemia, Pneumonia, Hypothermia |
OMIM:601005 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Acute pancreatitis, Hypothermia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Hy... |
ORPHA:20 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hypoalbuminemia,... |
OMIM:251880 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia, Obesity |
OMIM:618493 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age |
ORPHA:226313 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytope... |
OMIM:612541 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Leukocytosi... |
ORPHA:94093 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypothermia |
OMIM:618329 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulat... |
ORPHA:159 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Elevated circulating creatinine concentration, Rhinitis, Increased blood urea nitrog... |
ORPHA:230 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypothermia, Megaloblastic anemia, Hyperammonemia, Hyp... |
ORPHA:79282 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Hypothermia |
ORPHA:226316 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Failure to thrive, N... |
ORPHA:90674 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated ... |
OMIM:301074 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:90673 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen |
OMIM:223360 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia, Low plasma citrulline, Hyperalaninemia, Failure to thrive |
ORPHA:255210 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Tbck-Related Intellectual Disability Syndrome |
|
Abnormal circulating lipid concentration, Eczema, Hypothermia |
ORPHA:488632 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Gastritis, Hypocalcemia, Hypothermia |
ORPHA:31826 |
Alexander Disease |
|
Failure to thrive, Infectious encephalitis, Hypothermia |
ORPHA:58 |
Sarcoidosis |
|
Fever, Hemolytic anemia, Maculopapular exanthema, Hypercalcemia, Eosinophilia, Hypothermia, Eryth... |
ORPHA:797 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Failure to thrive, Hypothermia |
ORPHA:17 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Hypothermia, Aspiration pneumonia |
ORPHA:99027 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia |
OMIM:218700 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Intermittent hypothermia |
OMIM:608643 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Fever, Hypothermia, Hyperlipidemia, Hyperkalemia, Obesity, Infectious encephalitis |
ORPHA:293987 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Abnormal circulating thyroglobulin level, Hypothermia |
ORPHA:226307 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Hypothermia, Recurrent fever, Unexplained fevers, Septic arthr... |
ORPHA:642 |
Menkes Disease |
|
Osteomyelitis, Hypothermia |
ORPHA:565 |
Occipital Horn Syndrome |
|
Hypothermia, Hepatitis, Esophagitis |
ORPHA:198 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Decreased serum iron, Hypothermia, Aspiration pneumonia |
ORPHA:438213 |