Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... |
OMIM:205950 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Riboflavin Deficiency |
|
Hypothermia, Lethargy |
OMIM:615026 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Lethargy |
OMIM:610006 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... |
OMIM:210250 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Ataxia, Tremor |
ORPHA:29822 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron |
ORPHA:446 |
Hereditary Central Diabetes Insipidus |
|
Fever, Polydipsia |
ORPHA:30925 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia, Chorea |
OMIM:618557 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Lethargy |
ORPHA:95717 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hypoglycemia, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, Di... |
OMIM:606069 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Typ... |
OMIM:616860 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Familial Cold Urticaria |
|
Fever, Polydipsia, Dysesthesia |
ORPHA:47045 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent fever, Polydipsia |
OMIM:619468 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hyperammonemia |
ORPHA:664 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypothermia, Ataxia, Action tremor, Dysmetria, Intention tremor, Dysdiadochokinesis, Distal senso... |
ORPHA:99027 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Intermittent hypothe... |
OMIM:608643 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Lethargy |
ORPHA:95716 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Meningococcal Meningitis |
|
Hypothermia, Fever, Lethargy |
ORPHA:33475 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Permanent Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226292 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ... |
OMIM:604290 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Hypermethioninemia, Abnormality of iron homeostasis, Increased mean platelet volume... |
OMIM:222470 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia |
ORPHA:181393 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypothermia, Abnormality of temperature regulation, Fever, Inability to walk, Unsteady gait |
OMIM:618493 |
Central Diabetes Insipidus |
|
Fever, Polydipsia |
ORPHA:178029 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron |
OMIM:603358 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Splenomegaly, Increased serum iron, Anemia, Elevate... |
OMIM:613313 |
Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:616737 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid concentration, Hypogl... |
OMIM:615160 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Lathosterolosis |
|
Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Incr... |
OMIM:607330 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
Leptin Receptor Deficiency |
|
Aggressive behavior, Abnormal hypothalamus morphology |
OMIM:614963 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... |
OMIM:604250 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeostasis, Increased m... |
ORPHA:84064 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Pancytopenia |
OMIM:617872 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypothermia, Fever, Ataxia, Chorea, Gait ataxia, Dysphagia, Dystonia |
ORPHA:255210 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia, Lethargy |
ORPHA:226316 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Lethargy |
ORPHA:159 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia |
OMIM:304900 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Congenital Hypothyroidism |
|
Paresthesia, Hypothermia |
ORPHA:442 |
Congenital Enterovirus Infection |
|
Hypothermia, Fever |
ORPHA:292 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia |
OMIM:251880 |
Alexander Disease |
|
Hypothermia, Ataxia, Chorea, Tremor, Dysphagia |
ORPHA:58 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Lethargy |
ORPHA:90673 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Unexplained fevers |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Unexplained fevers |
OMIM:304800 |
Neuroleptic Malignant Syndrome |
|
Hypothermia, Fever, Oculogyric crisis, Chorea, Tremor, Dysphagia |
ORPHA:94093 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Lethargy |
ORPHA:26793 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Fever, Lethargy, Ataxia |
ORPHA:20 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Thrombocytopenia |
ORPHA:487796 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent fever, Hypothermia, Pain insensitivity, Trophic limb changes, Distal sensory impairment... |
ORPHA:642 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia |
ORPHA:199296 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... |
OMIM:616278 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Splenomegaly |
OMIM:613027 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia |
OMIM:615986 |
East Syndrome |
|
Salt craving, Polydipsia, Action tremor, Ataxia |
ORPHA:199343 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... |
ORPHA:2298 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia, Lethargy |
ORPHA:90674 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia, Inability to walk |
ORPHA:488632 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypothermia, Fever, Polydipsia, Polyphagia, Impaired pain sensation |
ORPHA:293987 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia |
OMIM:618329 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Ethylene Glycol Poisoning |
|
Hypothermia, Ataxia |
ORPHA:31826 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia, Ataxia, Lethargy |
ORPHA:79282 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Complex Regional Pain Syndrome |
|
Dysesthesia, Trophic changes related to pain, Allodynia, Somatic sensory dysfunction |
ORPHA:83452 |
Cystinosis |
|
Fever, Polydipsia |
ORPHA:213 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia |
OMIM:616026 |
Necrotizing Enterocolitis |
|
Neutropenia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Hypergly... |
ORPHA:391673 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
Nephrogenic Diabetes Insipidus |
|
Fever, Polydipsia |
ORPHA:223 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypothermia, Choreoathetosis, Dystonia |
ORPHA:17 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Polydipsia, Ataxia, Intention tremor, Salt craving, Dysdiadochokinesis |
OMIM:612780 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Glucose intolerance, Splenomegaly, Increased serum ... |
OMIM:235200 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Splenomegaly, Abnormality of iron homeostasis, Diab... |
ORPHA:465508 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoglycemia, Hyperammonemia |
OMIM:615751 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618835 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618839 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Lethargy |
OMIM:218700 |
Menkes Disease |
|
Hypothermia, Chorea |
ORPHA:565 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Diabetes mellitus, Aceruloplasminemia, Hypochromic ... |
ORPHA:48818 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Helix Syndrome |
|
Polydipsia, Heat intolerance |
OMIM:617671 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Athetosis |
ORPHA:369929 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Whipple Disease |
|
Fever, Polydipsia, Ataxia |
ORPHA:3452 |
Gitelman Syndrome |
|
Recurrent fever, Polydipsia, Ataxia, Salt craving, Paresthesia |
OMIM:263800 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia, Tremor |
ORPHA:525731 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Anemia, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia, Lethargy |
ORPHA:226307 |
Occipital Horn Syndrome |
|
Dysphagia, Hypothermia |
ORPHA:198 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Hypermanganesemia With Dystonia 1 |
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Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Dysphagia, Hypothermia, Dystonia, Exaggerated startle response |
ORPHA:438213 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypoglycemia, Hyperammonemia |
OMIM:617049 |
Marburg Hemorrhagic Fever |
|
Hypothermia, Fever, Lethargy |
ORPHA:99826 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Impaired tactile sensation, Allodynia, Hyperesthesia |
ORPHA:51890 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
African Iron Overload |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... |
ORPHA:139507 |
Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Brain-Lung-Thyroid Syndrome |
|
Ataxia, Intention tremor, Chorea, Abnormal eating behavior, Choreoathetosis, Unexplained fevers, ... |
ORPHA:209905 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Erdheim-Chester Disease |
|
Fever, Polydipsia, Ataxia |
ORPHA:35687 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
Paroxysmal Nocturnal Hemoglobinuria |
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Increased blood urea nitrogen, Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level,... |
ORPHA:447 |
Sarcoidosis |
|
Hypothermia, Fever |
ORPHA:797 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia, Hyperglycemia |
OMIM:615710 |
Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
Wolfram Syndrome |
|
Polydipsia, Ataxia |
ORPHA:3463 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Self-mutilation |
ORPHA:314621 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating ferritin concentration, Splenomegaly, Polycythemia, Abnormal transferrin sa... |
ORPHA:309854 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... |
ORPHA:3337 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia |
OMIM:228100 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Polydipsia |
ORPHA:537 |
Bartter Syndrome, Type 2, Antenatal |
|
Fever, Polydipsia, Paresthesia |
OMIM:241200 |
Senior-Boichis Syndrome |
|
Polydipsia |
ORPHA:84081 |
Infantile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411629 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Polydipsia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Dysphagia, Polydipsia |
ORPHA:143 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Gitelman Syndrome |
|
Paresthesia, Salt craving, Polydipsia |
ORPHA:358 |
Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411634 |
Cystinosis, Nephropathic |
|
Dysphagia, Polydipsia, Oral-pharyngeal dysphagia |
OMIM:219800 |
Proximal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:47159 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |