Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Kleine-Levin Syndrome |
|
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... |
ORPHA:33543 |
Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Hereditary Central Diabetes Insipidus |
|
Fever, Polydipsia |
ORPHA:30925 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Central Diabetes Insipidus |
|
Fever, Polydipsia, Anorexia |
ORPHA:178029 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Hypothermia |
ORPHA:95717 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Recurrent fever |
OMIM:619468 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder, Increased resting energy expenditure |
ORPHA:369873 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Meningococcal Meningitis |
|
Fever, Hypothermia, Anorexia |
ORPHA:33475 |
Familial Cold Urticaria |
|
Fever, Polydipsia |
ORPHA:47045 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Umbilical hernia, Hypothermia |
ORPHA:226313 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Hypothermia |
ORPHA:95716 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... |
OMIM:618493 |
Timothy Syndrome |
|
Hypothermia |
OMIM:601005 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypothermia |
ORPHA:159 |
Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
Ethylene Glycol Poisoning |
|
Cyanosis, Addictive alcohol use, Hypothermia |
ORPHA:31826 |
Cystinosis |
|
Fever, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Unexplained fevers |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Unexplained fevers |
OMIM:304800 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Hypothermia, Anorexia |
ORPHA:20 |
Acute Lung Injury |
|
Fever, Addictive alcohol use, Hypoxemia |
ORPHA:178320 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Cyanosis, Hypothermia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors,... |
ORPHA:293987 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Flexion contracture, Hypothermia, Dysphagia |
ORPHA:99027 |
Genetic Transient Congenital Hypothyroidism |
|
Umbilical hernia, Hypothermia |
ORPHA:226316 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Abnormality of connective tissue |
ORPHA:399180 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Umbilical hernia, Hypothermia, Attention deficit hyperactivity disorder |
ORPHA:90674 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Tongue thrusting, Intermittent hypothermia |
OMIM:608643 |
Nephrogenic Diabetes Insipidus |
|
Fever, Polydipsia, Anorexia |
ORPHA:223 |
Alexander Disease |
|
Self-injurious behavior, Hypothermia, Dysphagia |
ORPHA:58 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
ORPHA:26793 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Corneal scar... |
ORPHA:642 |
Neuroleptic Malignant Syndrome |
|
Fever, Agitation, Hypothermia, Dysphagia |
ORPHA:94093 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Hypothermia |
ORPHA:90673 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia |
OMIM:618329 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Hypothermia, Aggressive behavior |
ORPHA:17 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia |
OMIM:251880 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... |
ORPHA:198 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia, Dysphagia |
ORPHA:255210 |
Marchiafava-Bignami Disease |
|
Fever, Addictive alcohol use, Aggressive behavior |
ORPHA:221074 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
Whipple Disease |
|
Fever, Polydipsia, Anorexia |
ORPHA:3452 |
East Syndrome |
|
Polydipsia, Salt craving |
ORPHA:199343 |
Menkes Disease |
|
Inguinal hernia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, Chondrocalcinosis |
ORPHA:565 |
Gitelman Syndrome |
|
Polydipsia, Salt craving, Recurrent fever, Chondrocalcinosis |
OMIM:263800 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Unexpl... |
ORPHA:209905 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia |
ORPHA:488632 |
Staphylococcal Necrotizing Pneumonia |
|
Fever, Addictive alcohol use, Hypoxemia |
ORPHA:36238 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Helix Syndrome |
|
Polydipsia, Heat intolerance |
OMIM:617671 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Isolated Osteopoikilosis |
|
Keloids, Addictive alcohol use |
ORPHA:166119 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia |
ORPHA:79282 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia |
ORPHA:369929 |
Herpes Simplex Virus Encephalitis |
|
Fever, Addictive alcohol use |
ORPHA:1930 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
Marburg Hemorrhagic Fever |
|
Fever, Hypothermia, Anorexia, Aggressive behavior |
ORPHA:99826 |
Methanol Poisoning |
|
Addictive alcohol use |
ORPHA:31825 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Lipoma, Polydipsia, Chondrocalcinosis, Dysphagia |
ORPHA:99880 |
Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
Oligomeganephronia |
|
Polydipsia, Congenital diaphragmatic hernia |
ORPHA:2260 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Umbilical hernia, Hypothermia |
ORPHA:226307 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Polydipsia |
ORPHA:769 |
Parathyroid Carcinoma |
|
Lipoma, Polydipsia, Chondrocalcinosis, Dysphagia |
ORPHA:143 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Hypothermia |
OMIM:218700 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving |
OMIM:612780 |
Acute Promyelocytic Leukemia |
|
Fever, Addictive alcohol use, Anorexia |
ORPHA:520 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Hypothermia, Stereotypical hand wringing, Dysphagia |
ORPHA:438213 |
Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
Erdheim-Chester Disease |
|
Fever, Polydipsia |
ORPHA:35687 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia |
ORPHA:537 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Decreased resting energy expenditure, Achilles tendon contracture, Cornea... |
ORPHA:404454 |
Sarcoidosis |
|
Fever, Scarring, Hypothermia |
ORPHA:797 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use, Scarring, Corneal scarring |
ORPHA:101330 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Bartter Syndrome, Type 2, Antenatal |
|
Fever, Polydipsia, Chondrocalcinosis |
OMIM:241200 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use |
ORPHA:90065 |
Gitelman Syndrome |
|
Polydipsia, Salt craving, Chondrocalcinosis |
ORPHA:358 |
Infantile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411629 |
Wolfram Syndrome |
|
Polydipsia |
ORPHA:3463 |
Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
Arima Syndrome |
|
Polydipsia |
OMIM:243910 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Cystinosis, Nephropathic |
|
Polydipsia, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411634 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Enamel hypomineralization |
ORPHA:47159 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |