Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
Sudden Infant Death Syndrome |
|
Malignant hyperthermia |
OMIM:272120 |
Kerion Celsi |
|
Fever, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ski... |
ORPHA:499 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Pulmonary Blastoma |
|
Fever, Recurrent pneumonia |
ORPHA:64741 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Inappropriate absence of fever, Increased circulating IgE level, Atopi... |
OMIM:618944 |
Immunodeficiency, Common Variable, 7 |
|
Fever, Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absen... |
OMIM:614699 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
Pontiac Fever |
|
Fever |
ORPHA:99748 |
Neonatal Alloimmune Neutropenia |
|
Fever, Pneumonia, Maternal diabetes, Sepsis, Temperature instability |
ORPHA:464370 |
Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Fever, Palmoplantar pustulosis, Osteomyelitis |
OMIM:259680 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Arthritis, Conjunctivitis, Periodic fever |
OMIM:617772 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Fever, Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepat... |
OMIM:300635 |
Reticular Dysgenesis |
|
Fever, Recurrent respiratory infections, Skin rash, Sepsis, Dehydration, Decreased circulating an... |
ORPHA:33355 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Cyclic Neutropenia |
|
Fever |
OMIM:162800 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever, Skin rash |
OMIM:619175 |
Hyperthermia, Cutaneous, With Headaches And Nausea |
|
Fever |
OMIM:145590 |
Griscelli Syndrome, Type 2 |
|
Fever, Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Immunodeficiency 32A |
|
Fever, Lymphadenitis, Recurrent infections |
OMIM:614893 |
Autosomal Agammaglobulinemia |
|
Fever, Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infe... |
ORPHA:33110 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Fever, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Recurrent candida infections, Rec... |
ORPHA:169160 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Multicentric Reticulohistiocytosis |
|
Fever, Arthritis |
ORPHA:139436 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Skin rash, Edema, Conjunctivitis, Recurrent fever |
OMIM:603552 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Malignant hyperthermia |
OMIM:601887 |
Papa Syndrome |
|
Fever, Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating... |
ORPHA:69126 |
Pfapa Syndrome |
|
Arthritis, Abnormality of temperature regulation, Infectious encephalitis, Recurrent pharyngitis |
ORPHA:42642 |
Van Den Bosch Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Heat intolerance |
ORPHA:3417 |
Progressive Nodular Histiocytosis |
|
Fever |
ORPHA:158022 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
Isolated Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin r... |
ORPHA:229717 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 |
|
Fever, Cerebral edema |
OMIM:614212 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Recurrent upper respiratory tract infections, Decreased circulating antibody level, Abnorm... |
OMIM:613101 |
Lymphoproliferative Syndrome 2 |
|
Fever, Recurrent pneumonia, EBV encephalitis, Uveitis, Decreased circulating antibody level, Seps... |
OMIM:615122 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Fever, Anterior uveitis, Pericarditis, Skin rash, Joint swelling, Pleural effusion, Juvenile rheu... |
ORPHA:85414 |
Adult Idiopathic Neutropenia |
|
Fever, Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recu... |
ORPHA:2688 |
Follicular Lymphoma |
|
Fever, Pleural effusion, Lymphedema |
ORPHA:545 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Wells Syndrome |
|
Fever, Edema |
ORPHA:901 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Fever, Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, Recurren... |
OMIM:618935 |
Melkersson-Rosenthal Syndrome |
|
Fever, Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis |
ORPHA:2483 |
Autoinflammatory-Pancytopenia Syndrome |
|
Fever, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Type I diab... |
OMIM:619858 |
Immunodeficiency 60 And Autoimmunity |
|
Fever, Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulat... |
OMIM:618394 |
Focal Myositis |
|
Fever, Myositis |
ORPHA:48918 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Fever, Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Recurre... |
OMIM:618048 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Fever, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent fever |
OMIM:120100 |
Scedosporiosis |
|
Fever, Pericarditis, Sinusitis, Arthralgia/arthritis, Diabetes mellitus, Pneumonia, Osteomyelitis... |
ORPHA:449280 |
Immunodeficiency 9 |
|
Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Recurr... |
OMIM:612782 |
Immunodeficiency 32B |
|
Fever, Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Recurrent infectio... |
OMIM:226990 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Fever, Adrenal hyperplasia, Recurrent fever, Adrenogenital syndrome |
OMIM:201910 |
Acute Lung Injury |
|
Fever, Acute pancreatitis, Pneumonia, Edema, Sepsis |
ORPHA:178320 |
Immunodeficiency 22 |
|
Fever, Pericarditis, Recurrent upper respiratory tract infections, Decreased circulating total Ig... |
OMIM:615758 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:616030 |
Familial Atrial Myxoma |
|
Fever, Ascites, Bacterial endocarditis, Pedal edema |
ORPHA:615 |
Congenital Enterovirus Infection |
|
Fever, Skin rash, Hypothermia, Polyhydramnios, Fetal ascites, Myocarditis, Pericardial effusion, ... |
ORPHA:292 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Fever, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear in... |
ORPHA:486 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Fever, Neonatal sepsis, Increased circulating IgA level, Recurrent viral infections, Increased ci... |
ORPHA:169154 |
Granulomatous Disease, Chronic, X-Linked |
|
Fever, Recurrent bacterial skin infections, Recurrent Aspergillus infections, Osteomyelitis, Recu... |
OMIM:306400 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Fever, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurre... |
ORPHA:169090 |
Harlequin Ichthyosis |
|
Recurrent respiratory infections, Dehydration, Malignant hyperthermia, Erythroderma |
ORPHA:457 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Edema, Minimal change glomerulonephritis, Periorbital edema, Peritonitis |
ORPHA:656 |
Omenn Syndrome |
|
Fever, Pneumonia, Edema, Thyroiditis, Sepsis, Erythroderma, Hypothyroidism |
ORPHA:39041 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fever, Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Arthritis, Inflammation of... |
ORPHA:324964 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Nodular Non-Suppurative Panniculitis |
|
Fever, Panniculitis, Inflammatory abnormality of the eye, Edema |
ORPHA:33577 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Fever, Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating antibody level... |
ORPHA:331206 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Spinocerebellar Ataxia Type 3 |
|
Abnormality of temperature regulation |
ORPHA:98757 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Abnormality of temperature ... |
ORPHA:1334 |
Antisynthetase Syndrome |
|
Fever, Recurrent respiratory infections, Myositis, Skin rash, Edema, Myocarditis, Xerostomia, Ker... |
ORPHA:81 |
Pyomyositis |
|
Fever, Recurrent cutaneous abscess formation, Myositis, Sepsis, Recurrent infections |
ORPHA:764 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Fever |
OMIM:241120 |
Generalized Pustular Psoriasis |
|
Fever, Pustule, Cheilitis, Uveitis, Sepsis, Pedal edema, Arthritis, Palmoplantar pustulosis, Eryt... |
ORPHA:247353 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... |
OMIM:614897 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... |
ORPHA:453533 |
Pneumocystosis |
|
Fever, Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level... |
ORPHA:723 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Fever, Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Tubulointerstitial ne... |
ORPHA:139402 |
Pyoderma Gangrenosum |
|
Fever, Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody lev... |
ORPHA:48104 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Rat-Bite Fever |
|
Fever, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule... |
ORPHA:31205 |
Pancreatitis, Hereditary |
|
Fever, Pleural effusion, Diabetes mellitus, Pancreatitis |
OMIM:167800 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Abnormality of temperature regulation |
OMIM:618161 |
Melioidosis |
|
Fever, Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Sepsis, Acute infectious pneumon... |
ORPHA:31202 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Fever, Panniculitis, Facial edema |
OMIM:618398 |
Beta-Thalassemia |
|
Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Hepatitis |
ORPHA:848 |
Late-Onset Familial Hypoaldosteronism |
|
Fever, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circ... |
ORPHA:556037 |
Secondary Intestinal Lymphangiectasia |
|
Fever, Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Chylous ascite... |
ORPHA:90363 |
Chronic Granulomatous Disease |
|
Fever, Recurrent respiratory infections, Sinusitis, Eczema, Sepsis, Otitis media, Inflammatory ab... |
ORPHA:379 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Polyhydramnios, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308750 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Elevated circulat... |
OMIM:229070 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Sepsis, De... |
ORPHA:2552 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Fever, Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Inc... |
ORPHA:90790 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ... |
OMIM:614837 |
Reactive Arthritis |
|
Fever, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Arth... |
ORPHA:29207 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308700 |
Immunodeficiency 31C |
|
Fever, Chronic oral candidiasis, Recurrent respiratory infections, Diabetes mellitus, Osteomyelit... |
OMIM:614162 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Recurrent pneumonia, Hypothermia |
OMIM:618493 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Arthriti... |
OMIM:301074 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Abnormality of temperature regulation |
OMIM:619173 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Stuve-Wiedemann Syndrome 1 |
|
Fever, Abnormality of temperature regulation, Recurrent infections, Recurrent fever, Oligohydramnios |
OMIM:601559 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Machado-Joseph Disease Type 1 |
|
Abnormality of temperature regulation |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Abnormality of temperature regulation |
ORPHA:276241 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Machado-Joseph Disease Type 3 |
|
Abnormality of temperature regulation |
ORPHA:276244 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Abnormality of temperature regulation, Conjunctivitis, Uveitis |
ORPHA:90321 |
Deeah Syndrome |
|
Abnormality of temperature regulation, Decreased response to growth hormone stimulation test, Ant... |
OMIM:619004 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Abnormality of temperature regulation, Eczema, Ke... |
ORPHA:2273 |
Ulnar-Mammary Syndrome |
|
Abnormality of temperature regulation, Delayed puberty |
ORPHA:3138 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Abnormality of temperature regulation, Chronic rhinitis, Otitis... |
ORPHA:667 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation |
OMIM:209880 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia |
OMIM:603041 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Acute Transverse Myelitis |
|
Fever, Abnormality of temperature regulation |
ORPHA:139417 |