Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... |
ORPHA:100924 |
Central Diabetes Insipidus |
|
Hyponatremia, Fever, Anorexia, Diarrhea, Depression, Weight loss, Lethargy, Polydipsia, Failure t... |
ORPHA:178029 |
Juvenile Paget Disease |
|
Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hypertension, Hyperuricem... |
ORPHA:2801 |
Necrotizing Enterocolitis |
|
Hyponatremia, Apnea, Small for gestational age, Diarrhea, Peritonitis, Leukocytosis, Bloody diarr... |
ORPHA:391673 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Increased circulating inosine concentration, Autoimmune hemolytic anemia, Fa... |
OMIM:613179 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Obesity, Hypertension, Hyperostosis frontalis interna, Hyperuricemi... |
ORPHA:77296 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Failure to thrive, Abnormal immunoglobulin level, Increased T cell count, Increased c... |
ORPHA:98813 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Respiratory insu... |
OMIM:613845 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased mean platel... |
OMIM:617718 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevat... |
OMIM:613327 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... |
OMIM:300400 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Chronic diarrhea, Decreased circulating antibody level, Weight loss, Decreased circu... |
ORPHA:90362 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Fever, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin c... |
OMIM:603553 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Failure to thrive in infancy, Chronic diarrhea, Oligoarthritis, Growth delay, Decrea... |
OMIM:619510 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Hepatos... |
OMIM:619644 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Failure to thrive, Panhypogammaglobulinemia |
OMIM:269840 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Fever, Neutrophilia, Elevated c... |
ORPHA:1930 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... |
ORPHA:398063 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hypogly... |
ORPHA:199299 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Hyperuricemia, Cardiomyopathy |
ORPHA:3222 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Waddling gait, Fever, Leukocytosis, Antalgic gait |
ORPHA:168621 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Short stature, Decreased circulating IgA level, Decreased circulating antibody... |
OMIM:617744 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Small for gestational age, Ele... |
ORPHA:26793 |
Alpha-Heavy Chain Disease |
|
Fever, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... |
OMIM:616636 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention tremor |
OMIM:610539 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Incr... |
ORPHA:86816 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... |
OMIM:619281 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Pulmonary embolism, Diarrhea, Decreased circulating antibody level, Growt... |
OMIM:226300 |
Malaria |
|
Respiratory distress, Fever, Elevated circulating C-reactive protein concentration, Anemia, Gait ... |
ORPHA:673 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... |
OMIM:612526 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circu... |
OMIM:214700 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Fever, Ataxia, Anorexia, Cachexia, Splenomegaly, Diarr... |
ORPHA:3452 |
Sitosterolemia 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis |
OMIM:618666 |
Snakebite Envenomation |
|
Hyponatremia, Epistaxis, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory f... |
ORPHA:449285 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Failure to thrive, Abnormality of thrombocytes, Hypocalcemia |
ORPHA:172 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
Shigellosis |
|
Hyponatremia, Fever, Failure to thrive in infancy, Pneumonia, Anorexia, Abscess, Hypoglycemia, Th... |
ORPHA:810 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Vomiting,... |
ORPHA:94093 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Dyspnea, T... |
OMIM:607616 |
X-Linked Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Sinusitis, Thrombocytopenia, Chronic diarrhea, Recu... |
ORPHA:47 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis |
OMIM:618463 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Chronic diarrhea, Reduced natural killer cell count |
OMIM:615592 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Anorexia, Diarrhea, Hepatitis, Hepatosplenomegaly, Protracted diarrhea... |
ORPHA:169160 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Diarrhea, Leukopenia, Hypotension, L... |
ORPHA:99828 |
Hereditary Coproporphyria |
|
Hyponatremia, Fever, Abnormal circulating porphyrin concentration, Respiratory insufficiency, Epi... |
ORPHA:79273 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Fever, Leukocytosis, Depression, Thrombocytopenia |
ORPHA:83601 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymp... |
OMIM:612692 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Fever, Neonatal insulin-dependent diabetes mellitus, Neutropenia, Hyperammonemia, I... |
ORPHA:1667 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm... |
ORPHA:331206 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Pare... |
OMIM:175500 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... |
OMIM:614699 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Short stature, Decreased body weight |
OMIM:616311 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Capillary leak, Protracted ... |
OMIM:615758 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... |
OMIM:615559 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia |
OMIM:615361 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Diarrhea, Hypochromic microcytic anemia, Weight loss, Hypo... |
ORPHA:2494 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Nonketotic hypoglycemia, Ataxia, Apnea, Anorexia, Thrombocytosis, Hypothermia, Diarrhea, T... |
ORPHA:20 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Thrombocytopenia, Chronic diarrhea, Hyperkalemia, Hypoplastic spleen,... |
OMIM:617053 |
Congenital Enterovirus Infection |
|
Respiratory distress, Fever, Abnormal macrophage morphology, Hypothermia, Thrombocytopenia, Leuko... |
ORPHA:292 |
Rhabdoid Tumor |
|
Fever, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Weight loss, Irritability, Anemia |
ORPHA:69077 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... |
ORPHA:169154 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Asthma, Leukopenia, Monocytosis |
OMIM:616871 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, ... |
OMIM:603552 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Alg8-Cdg |
|
Hyponatremia, Ataxia, Small for gestational age, Thrombocytopenia, Diarrhea, Vomiting, Failure to... |
ORPHA:79325 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Scleroti... |
OMIM:615198 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B ... |
OMIM:614069 |
Legionnaires Disease |
|
Hyponatremia, Fever, Ataxia, Anorexia, Splenomegaly, Diarrhea, Respiratory insufficiency, Restric... |
ORPHA:549 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Elevated circulating aspartate a... |
OMIM:227810 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia |
ORPHA:364 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Diarrhea, Irritability, Athetosis, Leukopenia, Ne... |
OMIM:229050 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Congestive hea... |
OMIM:615895 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Short stature, Postnatal growth retarda... |
OMIM:212750 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antib... |
OMIM:607594 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Hyperkalemi... |
ORPHA:682 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosp... |
OMIM:613101 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
Glycogen Storage Disease Ixa1 |
|
Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Fever, Aplastic anemia, Pneumonia, Eosinophilia, Diarrhea, Acute lymphobl... |
ORPHA:486 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Constipation, Gastroesophageal reflux, Dysphagia, Failure to thri... |
DECIPHER:45 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Hyperalaninemia, Failure ... |
OMIM:619048 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Short stature, Abnormal T cell morphology, Generalized bone deminerali... |
OMIM:215250 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Short stature, Splenomegaly, Chronic diarrhea, Chronic lymphatic leukemia, Growth de... |
OMIM:616005 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Immunodeficiency 32B |
|
Fever, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchie... |
OMIM:226990 |
Cholera |
|
Hyponatremia, Fever, Hypoglycemia, Diarrhea, Tachypnea, Abnormal blood ion concentration, Irritab... |
ORPHA:173 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab... |
ORPHA:760 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormal immunoglobulin le... |
ORPHA:276 |
Adult Idiopathic Neutropenia |
|
Fever, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocy... |
ORPHA:2688 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Elevated hepatic transaminase, Pericarditis, Failure to thrive, Ataxia, Kyphosis, Abn... |
OMIM:212065 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Fever, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-d... |
ORPHA:556037 |
Bartter Syndrome, Type 2, Antenatal |
|
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, H... |
OMIM:241200 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Congestive heart... |
ORPHA:79083 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Apnea, Hypoglycemia, Hyperkalemia, Vomiting |
OMIM:240200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia, Hypothermia |
OMIM:615026 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Fever, Elevated circulating C-reactive protein concentration, Overweight, Leukocyto... |
ORPHA:247353 |
Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Diarrhea, Leukocytosis, Abnormal blood ion concentration, Car... |
ORPHA:31824 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decrea... |
OMIM:208900 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Anorexia, Thrombocytopenia, Splenomegaly, Neutropenia, Hyperammonemia, Chor... |
ORPHA:79312 |
Immunodeficiency 69 |
|
Fever, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Diarrhea, Leukoc... |
OMIM:618963 |
Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Increased circulating IgM... |
ORPHA:37748 |
Bartter Syndrome, Type 1, Antenatal |
|
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational a... |
OMIM:601678 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas |
ORPHA:1879 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:613090 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hypouricemia, Short stature, Large for gestational age, Rickets, E... |
OMIM:616026 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Obesity, Myocardial infarction |
OMIM:608320 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Kyphosis, Unsteady gait, Decreased circulating total IgM, Scoliosis, Decreased circulatin... |
OMIM:300861 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Accessory spleen, Tricuspid regurgitation, Decreased circulating c... |
OMIM:300972 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Small for gestational age, Hyperkalemia, Glycosuria,... |
ORPHA:97362 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Congestive heart fa... |
OMIM:203800 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Elevated circulating creatine kinase concentration, Abetali... |
ORPHA:96180 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Increased susceptibility to fractures, Decreased ci... |
OMIM:619752 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia |
ORPHA:517 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... |
OMIM:618394 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination... |
OMIM:308230 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiting, Failure to thrive |
OMIM:264350 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Failure to thrive, Recur... |
OMIM:203400 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Intrauterine g... |
OMIM:617056 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Thrombocytopenia, Diarrhea, Peritonitis, Elevated circulating crea... |
ORPHA:90038 |
Glycogen Storage Disease Ia |
|
Short stature, Hyperlipidemia, Osteoporosis, Gout, Growth delay, Xanthelasma, Hypertension, Hyper... |
OMIM:232200 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Giant platelets, Macrothrombocytopenia, Neutrophil inclusi... |
OMIM:155100 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Macular scar, Ank... |
OMIM:239000 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia, Ataxia, Depression |
ORPHA:163921 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Short ... |
OMIM:613385 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia... |
ORPHA:95409 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Decreased proportion of class-switched memory B cells, Decreased circulating to... |
OMIM:617765 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Epistaxis, Decreased mean platelet volume, Intermittent thrombocytop... |
OMIM:313900 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Diarrhea, Increased circulating IgM level, T lymphocytopenia, Failure to thrive, R... |
OMIM:242860 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Hypoglycemia, Hypothermia, Respiratory insufficiency, Respiratory ... |
OMIM:245400 |
Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Chronic diarrhea, Decreased proportion of class-switched memory B ce... |
OMIM:619652 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren... |
OMIM:610600 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Hypothermia, Tremor, Diarrhea, Gait disturbance, Abnormal pattern of respiration |
ORPHA:29822 |
Autoinflammation With Infantile Enterocolitis |
|
Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating... |
OMIM:616050 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Primary Erythromelalgia |
|
Leukemia, Abnormality of thrombocytes, Hypothermia |
ORPHA:90026 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomi... |
OMIM:177735 |
Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia, Respiratory insufficiency, Irritability, Emphysema, ... |
ORPHA:436 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase... |
ORPHA:89938 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase, Dysphagia |
OMIM:620265 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Failure to thrive, Diarrhea, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopa... |
OMIM:614702 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Spleno... |
OMIM:616100 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture, Scoliosis |
OMIM:166700 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Failure to thrive, Chronic neutropenia, Atrophic gastr... |
OMIM:614700 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Eosinophilia, Increased circulating IgE level, Sterile abscess, Spinal canal steno... |
OMIM:618282 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive |
OMIM:614736 |
Meningococcal Meningitis |
|
Fever, Neonatal respiratory distress, Projectile vomiting, Elevated circulating C-reactive protei... |
ORPHA:33475 |
Immunodeficiency 27A |
|
Fever, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, W... |
OMIM:209950 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypoplasia of t... |
OMIM:603554 |
Cln3 Disease |
|
Ataxia, Aggressive behavior, Vacuolated lymphocytes, Bradykinesia, T-wave inversion, Bradycardia,... |
ORPHA:228346 |
Glycogen Storage Disease Ixb |
|
Growth delay, Short stature, Hyperuricemia |
OMIM:261750 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA... |
OMIM:603909 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Diarrhea, Decreased circulating IgG level, Partial absenc... |
OMIM:240500 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... |
ORPHA:507 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sensation in the lower ... |
OMIM:159550 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... |
OMIM:616834 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Multiple Myeloma |
|
Osteopenia, Tall stature, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated ... |
ORPHA:29073 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Hyperammonemia, Weight loss, Hypertension, Agitation, Hyperuricemia, Hypotension, Oral ... |
ORPHA:134 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Autoimmune Hypoparathyroidism |
|
Dyspnea, Depression, Irritability, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypocalcemic tet... |
ORPHA:36913 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Beta-Thalassemia |
|
Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, ... |
ORPHA:848 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased proportion of CD3-posit... |
ORPHA:275 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Constipation, Bradycardia, Prolonged neonatal j... |
ORPHA:95717 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Hyperuricemia, De... |
ORPHA:543 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Fever, Diabetes mellitus, Pneumonia, Dyspnea, Diar... |
ORPHA:544482 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Thrombocytopenia, Chorea, Neutropenia, Hyperammonemia, Choreoathetosis, Dys... |
ORPHA:289916 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Dyspnea, Diarrhea, Insulin resistance, Elevated circulating creatinine... |
ORPHA:230 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Diarrhea, Hyp... |
ORPHA:361 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu... |
OMIM:602522 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Failure to thrive, Ataxia, Erythroid hypoplasia, Diarrhea, Retic... |
OMIM:275350 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Raynaud phe... |
ORPHA:331235 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Self-mutilation, Hyperuricemia |
OMIM:308950 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Ataxia, Decreased lymphocyte proliferation in response to anti-CD3, Hyperlordosis, Di... |
ORPHA:221139 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hyperlipidemia, Growth delay, Gastroesophageal reflux, Hypoalbuminemia... |
OMIM:256300 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia... |
ORPHA:85138 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy, Hypoglycemia, Hypothermia |
OMIM:610006 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Normo... |
OMIM:618775 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ab... |
OMIM:618048 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Gaucher Disease Type 1 |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Anorexia, Hypersplenism, Thrombocytopen... |
ORPHA:77259 |
Glycogen Storage Disease Ib |
|
Short stature, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hypertension, Hyperuricemia, Dela... |
OMIM:232220 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypothermia, Respiratory insufficiency, Dystonia |
OMIM:614654 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemi... |
ORPHA:37042 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, G... |
ORPHA:90041 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Hypocholester... |
OMIM:610883 |
Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Fever, Neutrophilia, Anorexia, Tremor, Diarrhea, Opisthotonus... |
ORPHA:79139 |
Thrombotic Thrombocytopenic Purpura |
|
Fever, Reticulocytosis, Dyspnea, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum cre... |
ORPHA:54057 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis |
OMIM:185500 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Bradycardia, Cardiac arrest |
OMIM:618235 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Bone-marrow foam cells, Hypersplenism, Diarrhea, Va... |
ORPHA:275761 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammone... |
ORPHA:159 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Intestinal obstruction, Right ventricular failure,... |
ORPHA:90363 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Irritability, Dystonia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Diarrhea, Impaired proprioception, Vomiting, Steatorrhea, F... |
ORPHA:71 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Intermittent hypothermia, Di... |
OMIM:608643 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Diffuse Alveolar Hemorrhage |
|
Fever, Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis,... |
ORPHA:90060 |
Porphyria Variegata |
|
Hyponatremia, Somatic sensory dysfunction, Abnormal circulating porphyrin concentration, Ileus, C... |
ORPHA:79473 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc... |
ORPHA:293978 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Irritability, Let... |
ORPHA:79242 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... |
OMIM:613501 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Fever, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactiv... |
ORPHA:1302 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia, Attention deficit hyperactivity disorder, Obesity |
ORPHA:261222 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia |
ORPHA:100024 |
Propionic Acidemia |
|
Pancytopenia, Apnea, Hypoglycemia, Thrombocytopenia, Tachypnea, Neutropenia, Hyperammonemia, Cons... |
OMIM:606054 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... |
ORPHA:566943 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fever, Sinusitis, Elevated circulating creatine kinase concentration, Pneum... |
ORPHA:36234 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Neutropenia, Fa... |
OMIM:615285 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Bloody diarrhe... |
ORPHA:99826 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... |
ORPHA:35909 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... |
OMIM:231200 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Growth delay, Decreased... |
OMIM:619774 |
Hereditary Xanthinuria |
|
Reduced xanthine dehydrogenase level, Hypouricemia, Sulfite oxidase deficiency, Gout, Hyperxanthi... |
ORPHA:3467 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis |
ORPHA:1192 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... |
ORPHA:199296 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... |
OMIM:136300 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit... |
ORPHA:79324 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly,... |
OMIM:607765 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Telangiectasia of the skin, Ataxia, Short stature, De... |
ORPHA:100 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Thrombocytopenia, Hyperammonemia, Respiratory insufficiency, Choreoath... |
ORPHA:27 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Hypovolemia, Elevated c... |
ORPHA:411634 |
Sepsis In Premature Infants |
|
Tachycardia, Increased circulating interleukin 6 concentration, Small for gestational age, Elevat... |
ORPHA:90051 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Decreased circulating ... |
ORPHA:508533 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop... |
OMIM:615767 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomiting |
OMIM:620126 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Fever, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactiv... |
ORPHA:158057 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Grange Syndrome |
|
Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Short stature, Epistaxis, Hyperlipidemia, Osteoporosis, Gout, I... |
ORPHA:79259 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Infant Botulism |
|
Hyponatremia, Anorexia, Bowel incontinence, Respiratory insufficiency due to muscle weakness, Dys... |
ORPHA:178478 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia |
OMIM:610181 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hy... |
OMIM:251880 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurre... |
OMIM:601457 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Irritability, Vomiting, Constipation, Unexplained fevers, Polydipsia, Hypernat... |
OMIM:125800 |
Hypophosphatasia, Infantile |
|
Fever, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Apnea, Irritability, Vomiting, Con... |
OMIM:241500 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Aggressive behavior, Jaundice, Flexion contracture, Hypoproteinemia |
OMIM:608093 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Irritability, Vomiting, Constipation, Unexplained fevers, Polydipsia, Hypernat... |
OMIM:304800 |
Timothy Syndrome |
|
Hypoglycemia, Pneumonia, Hypothermia, Hypocalcemia, Pulmonary arterial hypertension |
OMIM:601005 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Ataxia, Hypoglycemia, Hypothermi... |
ORPHA:79282 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... |
OMIM:614878 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Gout |
ORPHA:510 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Babesiosis |
|
Fever, Hemolytic anemia, Anorexia, Splenomegaly, Respiratory insufficiency, Depression, Leukopeni... |
ORPHA:108 |
Johanson-Blizzard Syndrome |
|
Short stature, Intrauterine growth retardation, Failure to thrive, Hypoproteinemia, Anemia, Exocr... |
ORPHA:2315 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Polyphagia, Obesity, Hypertension, Childhood-onse... |
ORPHA:71529 |
Familial Hypoaldosteronism |
|
Hyponatremia, Diarrhea, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thr... |
ORPHA:427 |
Relapsing Fever |
|
Fever, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thrombocyt... |
ORPHA:91547 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Decreased liver f... |
OMIM:616299 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Intrauterine growth retardation, Hypertrophic cardio... |
OMIM:620270 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
OMIM:309548 |
Systemic Lupus Erythematosus 17 |
|
Fever, Autoimmune thrombocytopenia, Chorea, Leukopenia, Recurrent fever, Lymphopenia, Thrombocyto... |
OMIM:301080 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Cardiac arrest, Elevated circulating creatine kinase concentration... |
OMIM:212138 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia, Intrauterine ... |
OMIM:242900 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Fever, Decreased circulating cortisol level, Hypoglycemia, Pneumonia, Hyperkalemia,... |
ORPHA:90790 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Somatic sensory dysfunction, Fever, Tremor, Diarrhea, Ileus, Respirat... |
ORPHA:79276 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... |
OMIM:619705 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... |
OMIM:619178 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Respiratory distress, Hypoglycemia, Hyperammonemia, Leukopenia, Vomiting,... |
OMIM:251000 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced ... |
OMIM:620210 |
Isolated Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Sinusitis, Pneumonia, Abnormality of neutrophils, T... |
ORPHA:229717 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
ORPHA:100973 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Cog4-Cdg |
|
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Intermittent diarrhea, Hy... |
ORPHA:263501 |
12q14 microdeletion syndrome |
|
Osteopoikilosis, Proportionate short stature |
DECIPHER:76 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column |
OMIM:602475 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Tachypnea, Vomiting, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Ata... |
ORPHA:3008 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune thrombocytopen... |
ORPHA:436159 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Growth delay, Joint contracture of the 5th finger, Bradycardia, Failure t... |
OMIM:614407 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Gait disturbance, Decreased circulating antibody level |
ORPHA:2572 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia, Unexplai... |
OMIM:614727 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Constipation, Bradycardia, Prolonged neonatal j... |
ORPHA:95716 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Anorexia, Megaloblastic anemia, Diarrhea, Paresthesia, Lethargy, Thrombocytopenia |
ORPHA:49827 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Chorea, Depression, Irritabili... |
ORPHA:66624 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia, Ataxia |
ORPHA:1187 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Difficulty walking |
ORPHA:564003 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ... |
OMIM:618987 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Hypertaurinemia, Hypocy... |
OMIM:615501 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Ataxia, Short stature, Growth delay, Epiphyseal stippling, Gastroesophageal reflux,... |
ORPHA:251009 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation |
DECIPHER:8 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Chronic diarrh... |
ORPHA:330001 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,... |
ORPHA:14 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... |
ORPHA:572 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Small for gestational age, Thrombocytop... |
ORPHA:699 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Small for gestational age, Rhizomelia, Decreased circulating tot... |
OMIM:607143 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Large for gestational age, Umbilical hernia, Thrombocytopenia, Decreased circulating ... |
OMIM:616638 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... |
ORPHA:98826 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... |
OMIM:620005 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ... |
ORPHA:125 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ... |
ORPHA:158048 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Fever, Central hypoventilation, Hypothermia, Aggressive behavior, ... |
ORPHA:293987 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Short stature, Elevated circulating alpha-fetoprotein concen... |
ORPHA:420741 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... |
ORPHA:3261 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Short stature, Decreased circulating total IgM, Gastroesophageal... |
OMIM:620040 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Elevated circul... |
OMIM:620366 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Pulmonary arterial hyp... |
OMIM:614857 |
Pituitary Apoplexy |
|
Hyponatremia, Fever, Hypoglycemia, Increased circulating cortisol level, Normochromic anemia |
ORPHA:95613 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Cystinosis |
|
Fever, Hypokalemia, Gait disturbance, Vomiting, Hypophosphatemia, Type I diabetes mellitus, Polyd... |
ORPHA:213 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin concentration... |
OMIM:300635 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Short stature |
ORPHA:2204 |
Tetanus |
|
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Hypertension, Bradyc... |
ORPHA:3299 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Aapoaiv Amyloidosis |
|
Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac co... |
ORPHA:439232 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Fever, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-r... |
ORPHA:36238 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Vom... |
ORPHA:90794 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Paresthesia, Hyp... |
OMIM:601198 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, T... |
OMIM:618108 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Fever, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Chronic diarrhea, Agammaglobulinemia, Decreased circulating total IgM, T l... |
OMIM:300755 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Fever, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Stiff neck, Elevated circulating C-reactive protein concent... |
ORPHA:319213 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal asphyxia, Hyperkalemia, Increased ci... |
ORPHA:90791 |
Xanthinuria, Type Ii |
|
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia |
OMIM:603592 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Constipation, Bradycardia, Prolonged ... |
ORPHA:226313 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Fever, Anemia of inadequate p... |
ORPHA:86839 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... |
OMIM:615745 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Failure to thrive, Diarrhea, Increased circulating IgE level, Lack of T cell functio... |
ORPHA:277 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Diarrhea,... |
ORPHA:2070 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Growth delay, Umbilical hern... |
ORPHA:90674 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Hypokalemia, Gastroesophageal reflux, ... |
OMIM:617913 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Dyspnea, Splenomegaly, Tachypnea, Constipation, Hypophosphatemia, Poly... |
OMIM:239200 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytope... |
OMIM:612541 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia... |
ORPHA:94090 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Low alkaline phosphat... |
ORPHA:369837 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, Hypothermia |
OMIM:618557 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly |
OMIM:610015 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi... |
OMIM:617780 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Tal... |
ORPHA:3152 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Ethylene Glycol Poisoning |
|
Ataxia, Gastritis, Hypothermia, Abnormal pattern of respiration, Tachypnea, Hyperkalemia, Episodi... |
ORPHA:31826 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Short stature, Eosinoph... |
ORPHA:353298 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Hyperostos... |
ORPHA:2485 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia, Polydipsia, Nausea |
ORPHA:95513 |
Monosomy 18Q |
|
Left-to-right shunt, Short stature, Kyphoscoliosis, Congestive heart failure, Choreoathetosis, Gr... |
ORPHA:1600 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxida... |
OMIM:252150 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Inability to walk, Decreased circulating total IgA, Attention deficit hyperactivit... |
ORPHA:1929 |
Acute Monoblastic/Monocytic Leukemia |
|
Fever, Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic ... |
ORPHA:514 |
Glucose-Galactose Malabsorption |
|
Fever, Failure to thrive, Hypercalcemia, Diarrhea, Weight loss, Vomiting, Hypernatremia |
ORPHA:35710 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... |
OMIM:122860 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... |
ORPHA:275555 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... |
ORPHA:443811 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Abnormal left ventricular function, Leukopenia, Vomiting, Hypocalcemia, Lympho... |
OMIM:619991 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Gitelman Syndrome |
|
Respiratory distress, Salt craving, Maternal diabetes, Diarrhea, Insulin resistance, Hypermagnese... |
ORPHA:358 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Gout, Hypertension, Hyperuricemia, Hypotension |
OMIM:174000 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia, Bronch... |
OMIM:150550 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia, Let... |
OMIM:605899 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Respiratory insufficiency, Respiratory failure, Tip-toe gait, Hypoc... |
ORPHA:746 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... |
ORPHA:99827 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Colitis, Recurrent fever, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Primary Myelofibrosis |
|
Fever, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocyt... |
ORPHA:824 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Normochromic anemia, C... |
ORPHA:91355 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Avian Influenza |
|
Respiratory distress, Fever, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:454836 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Ma... |
ORPHA:466650 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia |
OMIM:615924 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Tricuspid regurgitation, Spinal rigidity, Kyp... |
OMIM:620351 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Acute Promyelocytic Leukemia |
|
Fever, Pancytopenia, Epistaxis, Anorexia, Productive cough, Thrombocytopenia, Leukocytosis, Weigh... |
ORPHA:520 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Failure to thrive, Hypocalcemic... |
OMIM:264700 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Short neck, Splenomegaly, Hypocalcemia, Hepatic failure, Hypoproteinemia |
OMIM:235255 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia, Dystonia |
OMIM:610329 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun... |
ORPHA:136 |
Okur-Chung Neurodevelopmental Syndrome |
|
Inguinal hernia, Failure to thrive, Ataxia, Recurrent hand flapping, Decreased circulating antibo... |
OMIM:617062 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Dyspnea, Depression, Irritability, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypo... |
ORPHA:94089 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Failure to thrive, Anemia |
OMIM:616740 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Diarrhea, Weight loss, Decreased circulating antibody level, Leukopen... |
ORPHA:33355 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A... |
OMIM:300310 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Atrophic scars, Ischemic stro... |
OMIM:182410 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Growth delay, D... |
OMIM:210900 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating r... |
ORPHA:199343 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia, Gout |
OMIM:162000 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Short neck, Postnatal growth retardation, Splenomegaly, Hepatosplenomegaly, Hypo... |
ORPHA:1655 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, Hypok... |
OMIM:618426 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Bowel incontinence, Hypothermia, Tremor, Chorea, Respiratory insuffici... |
ORPHA:58 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Increased circulating ferritin concentration, Leukocytosis, Respiratory insufficiency, Rec... |
OMIM:618886 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Ataxia, Splenomegaly, Depression, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Increased susceptibility to fractures, Hypertension, Hyperuricemia, Abnormal... |
ORPHA:2769 |
Macrophage Activation Syndrome |
|
Fever, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased cir... |
ORPHA:158061 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... |
OMIM:615934 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Growth delay, Decreased circulating total IgM,... |
OMIM:612301 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Thrombocytopenia, Hyperammonemia, Vom... |
OMIM:251110 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, F... |
OMIM:619151 |
Dubowitz Syndrome |
|
Inguinal hernia, Hyperactivity, Aplastic anemia, Short stature, Sacral dimple, Postnatal growth r... |
OMIM:223370 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Nausea, Normochromic anemia |
ORPHA:95512 |
Transaldolase Deficiency |
|
Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Abnormal circulatin... |
ORPHA:101028 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic diarrhea, Chro... |
OMIM:615607 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Hypoglycemia, Neutropenia, Bronchiectasis, Hyperammonemia, Resp... |
OMIM:618253 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia |
OMIM:613092 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Glycogen Storage Disease Ic |
|
Spider hemangioma, Hyperlipidemia, Gout, Xanthelasma, Hypertension, Hyperuricemia, Delayed pubert... |
OMIM:232240 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Fever, Cough, Dyspnea, Diarrhea, Melena, Leukopenia, Vomiting, Dysph... |
ORPHA:319218 |
Genetic Recurrent Myoglobinuria |
|
Fever, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty... |
ORPHA:99845 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm... |
OMIM:608800 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Secretory diarrhea, Hematochezia, Hypoalbuminemia, Hypocalcem... |
OMIM:618183 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated... |
OMIM:310300 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Dystonia, Ataxia, Apnea, Hypothermia, Dyspnea, Chorea, Low plasma citrulline, Episodic res... |
ORPHA:255210 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Hypothermia, Impaired... |
ORPHA:99027 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
Hereditary Renal Hypouricemia |
|
Back pain, Hypouricemia, Vomiting, Increased blood urea nitrogen, Nausea |
ORPHA:94088 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... |
ORPHA:85443 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypokalemia, Anemia |
OMIM:611489 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Vomiting, Increased mean platelet volume |
OMIM:300048 |
Blue Diaper Syndrome |
|
Hypercalcemia, Diarrhea, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hyp... |
ORPHA:94086 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Hypothermia, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hyper... |
OMIM:618329 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Tremor, Dyspnea, Hypokalemia, Respiratory failure, Interstitial p... |
ORPHA:330021 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fever, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Respir... |
ORPHA:3226 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Short stature, Neutropenia |
OMIM:610798 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... |
OMIM:611490 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
D-Glyceric Aciduria |
|
Tongue thrusting, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia, Growth... |
OMIM:220120 |
Takayasu Arteritis |
|
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation |
ORPHA:3287 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Vomiting, Lethargy, Abnormal cir... |
ORPHA:470 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive |
OMIM:300200 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Short ne... |
OMIM:619750 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Nephrogenic Diabetes Insipidus |
|
Fever, Anorexia, Constipation, Hypernatremia, Polydipsia, Failure to thrive |
ORPHA:223 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Elevated hepatic transaminase, Jaundice, Decreased ... |
OMIM:301045 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Dyspnea, Obesity, Depression, Irritability, Hyperphosphatemia, Paresthesia, Hypocalce... |
ORPHA:79444 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis |
OMIM:126320 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Short stature, Recurrent fractures, Kyphoscoliosis, Dentinogenesi... |
OMIM:614856 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Lesch-Nyhan Syndrome |
|
Short stature, Self-injurious behavior, Hyperuricemia, Dysphagia, Podagra |
OMIM:300322 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Large for gestational age, Gait disturbance, Decreased circulating IgA level |
ORPHA:457485 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia |
OMIM:602361 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Poems Syndrome |
|
Sclerosis of hand bone, Thrombocytosis, Lipodystrophy, Sclerosis of foot bone, Weight loss, Scler... |
ORPHA:2905 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Dyspnea, Obesity, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, Pares... |
ORPHA:79443 |
Tularemia |
|
Respiratory distress, Brain abscess, Fever, Pneumonia, Thrombocytopenia, Leukocytosis, Cough, Ple... |
ORPHA:3392 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Tremor, Thrombocytopenia, Hyperammone... |
OMIM:251100 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Weight loss, Increased susceptibili... |
ORPHA:3337 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Respiratory insufficiency, Depression, Hypophosphatemia, Self-injuri... |
ORPHA:534 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Thrombocytopenia, Dysphagia |
OMIM:619751 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of temperature regulation, Apnea, Tremor, Splenomegaly, Hypocalcemia, Chronic rhiniti... |
ORPHA:667 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Hypoventilation, Failure to thrive in infancy, Obesity, Tracheomalacia |
OMIM:620155 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
Oculoskeletodental Syndrome |
|
Splenomegaly, Hypercalcemia, Small for gestational age, Hypocalcemia |
OMIM:618440 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level, Arthritis, B... |
ORPHA:397596 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Crackles, Dyspnea, Nonproductive co... |
ORPHA:2902 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Growth delay, Molybdenum cofactor deficiency, Hypouricemia |
OMIM:252160 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Dyspnea, Increased circulating ferritin concentration, Hepatosplenomegaly, Restrictive ... |
ORPHA:210136 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Chronic constipation, Atte... |
OMIM:620211 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Failure to thrive, Gastro... |
ORPHA:79329 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Impaired temperature sensation, Painless fractures due to injury, Recurrent aspiration pneumonia,... |
ORPHA:642 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... |
OMIM:618493 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Neutropenia, Intracta... |
OMIM:617475 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form... |
ORPHA:628 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... |
ORPHA:77297 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level, Episodic vomiting |
OMIM:618973 |
Aregenerative Anemia |
|
Fever, Pancytopenia, Abnormal proportion of CD8-positive T cells, Dyspnea, Erythroid hypoplasia, ... |
ORPHA:101096 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal circulating enzyme concentration or activity, Congenital foot contractures, Tip-toe gait... |
ORPHA:565624 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Diarrhea, L... |
ORPHA:98850 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Short stature, Decreased circulating IgA level, Decreased circulatin... |
ORPHA:1951 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Small for gestational age, Hypoglycemia, Cough, Tachypnea, Respiratory insufficienc... |
OMIM:613658 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemi... |
OMIM:615751 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... |
OMIM:239100 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Inguinal hernia, Growth delay, Bradycardia, Pulmonary arterial hypertension, Failure to thrive |
OMIM:619272 |
Atelis Syndrome 1 |
|
Thrombocytopenia, Bronchiectasis, Leukopenia, Attention deficit hyperactivity disorder, Anemia |
OMIM:620184 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:612462 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Osteootohepatoenteric Syndrome |
|
Asthma, Secretory diarrhea, Weight loss, Hypokalemia, Increased serum bile acid concentration, Fa... |
OMIM:619377 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Drug-Induced Lupus Erythematosus |
|
Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protei... |
ORPHA:231111 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Waddling gait, Increased bone mineral density, Diaphyseal sc... |
OMIM:131300 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Diarrhea, Vestibular areflexia, Hy... |
ORPHA:3240 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Weight loss, Vomiting, Lethargy, Failure to thrive |
OMIM:143880 |
Chronic Myeloid Leukemia |
|
Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ... |
ORPHA:521 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Respiratory distress, Apnea, Hypoglycemia, Hypothermia, Aggressive behavi... |
ORPHA:17 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Quotidian fever, Periodic fever |
OMIM:618795 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Familial Dysautonomia |
|
Hyponatremia, Ataxia, Impaired pain sensation, Malignant hyperthermia, Gastroesophageal reflux, G... |
ORPHA:1764 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... |
OMIM:208000 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Hypomag... |
OMIM:219800 |
Werner Syndrome |
|
Increased bone mineral density, Lipodystrophy, Telangiectasia of the skin, Myocardial infarction,... |
ORPHA:902 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Increased bone... |
ORPHA:355 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Thoracic scoliosis, Elevated circulating aspartate aminotransferase concentration, Recurrent frac... |
OMIM:606056 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Failure to thrive, Hypocalcemic... |
ORPHA:289157 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Hyperlordosis, C... |
OMIM:310200 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Polydipsia, Nausea |
ORPHA:403 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dyspnea, Respir... |
OMIM:610505 |
Griscelli Syndrome |
|
Fever, Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid c... |
ORPHA:381 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Monoclonal elevation of circulating I... |
ORPHA:91139 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia, Ataxia, Inappropriate laughter, Difficulty walking |
OMIM:618476 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Dysmetria, Athetosis, ... |
OMIM:617710 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Athetosis, Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperal... |
ORPHA:369929 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Dystonia, Thrombocytop... |
OMIM:610333 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia |
ORPHA:721 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Depression, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypomagnesemia, Emotion... |
ORPHA:428 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Irritability, Bradykine... |
ORPHA:248111 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia |
OMIM:598500 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Supraventricular ... |
ORPHA:97214 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia |
OMIM:609286 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Gastroparesis, Inability to walk, Flexion contracture, Elbow flexion... |
ORPHA:70 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:610377 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess... |
OMIM:301074 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Hypertriglyce... |
OMIM:619573 |
Amoebiasis Due To Entamoeba Histolytica |
|
Fever, Intestinal obstruction, Liver abscess, Lung abscess, Dyspnea, Diarrhea, Leukocytosis, Prot... |
ORPHA:67 |
Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Abnormality of the s... |
ORPHA:2162 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte co... |
ORPHA:79124 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Dec... |
OMIM:617006 |
Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Difficulty wal... |
ORPHA:206572 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Joint contracture, Bradycardia |
OMIM:614498 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati... |
ORPHA:2643 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Short neck, Wrist flexion contracture, Increa... |
ORPHA:800 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231226 |
Mogs-Cdg |
|
Thoracic scoliosis, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulati... |
ORPHA:79330 |
Encephalitis Lethargica |
|
Stiff neck, Bowel incontinence, Increased circulating antibody level, Bradycardia, Lethargy |
ORPHA:83600 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Immunodeficiency 12 |
|
Short stature, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-... |
OMIM:615468 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Reticulocytosis, Hyperlipidemia, Diarrhea, Elevated circulating creatinine concentration, ... |
OMIM:235400 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, A... |
OMIM:557000 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Gastroesophageal reflux, Abnormal pattern of respiration, Hypothermia |
ORPHA:168593 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Letterer-Siwe Disease |
|
Fever, Dyspnea, Thrombocytopenia, Hepatosplenomegaly, Irritability, Neutropenia, Stomatitis, Anemia |
OMIM:246400 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... |
OMIM:618986 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Diarrhea, Failure to thrive in infancy, Anemia |
ORPHA:858 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Type IV atherosclerotic lesion, Tendon xanthomatosis, Peripheral art... |
ORPHA:412 |
Liddle Syndrome |
|
Hypokalemia, Constipation |
ORPHA:526 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Agi... |
ORPHA:276556 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Athetosis, Limb dystonia, Methemoglobinemia, Exertional dyspnea |
ORPHA:621 |
Nathalie Syndrome |
|
Growth delay, Abnormal EKG |
OMIM:255990 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Fever, Tremor, Schistocytosis, Elevated circulating creati... |
OMIM:274150 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Syndromic Diarrhea |
|
Gastritis, Small for gestational age, Increased mean platelet volume, Splenomegaly, Bloody diarrh... |
ORPHA:84064 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Small for gestational age, ... |
ORPHA:330015 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomyopathy, Scoliosis, ... |
ORPHA:1177 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea, Hypothermia |
OMIM:616501 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lymphocytosis |
ORPHA:79087 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Cons... |
ORPHA:90673 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Sinusitis, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent fev... |
OMIM:617591 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death |
OMIM:611890 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231214 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Neonatal asphyxia, Diarrhea, Splenomegaly, Neutropenia in presence of anti... |
ORPHA:525731 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Lambert Syndrome |
|
Inguinal hernia, Failure to thrive in infancy, Jaundice, Decreased circulating antibody level, In... |
ORPHA:1296 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T c... |
ORPHA:66628 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive megaloblastic anemia, Gastro... |
OMIM:249270 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Hyperlordosis, Overweight, Generalized ... |
ORPHA:763 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esop... |
OMIM:243700 |
Rosaï-Dorfman Disease |
|
Osteolysis, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Hypokalemia, Increased circulating renin level, Vomiting, Constipation, Hyp... |
OMIM:263800 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, E... |
ORPHA:2785 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow ... |
OMIM:618116 |
Gaucher Disease Type 3 |
|
Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Osteolysis, Increased suscept... |
ORPHA:77261 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... |
OMIM:615673 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Hypercalcemia, Obesity, Increased blood urea nitrogen, Episodic hemolytic ane... |
ORPHA:251004 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:1501 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Hypertriglyceri... |
ORPHA:540 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T c... |
ORPHA:179494 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... |
OMIM:277380 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Cerebral hemorrhage, Bradycardia, Lethargy, Thrombocytopenia |
OMIM:617397 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Vomiting, Increased circulating renin level, Abnor... |
OMIM:241150 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Diarrhea, T l... |
ORPHA:83471 |
Hyperuricemia, Hprt-Related |
|
Podagra, Hyperuricemia |
OMIM:300323 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Respiratory insufficiency due to muscle weakness, Sec... |
ORPHA:97282 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Frequent temper ... |
OMIM:620141 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-supp... |
ORPHA:251274 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Short stature, Hyperuricemia, Gout |
OMIM:300661 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Ataxia, Portal hypertension, R... |
OMIM:615688 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Decreased circulating antibody level, Gait disturbance, Scoliosis |
ORPHA:85317 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Large for gestational age, Decreased circulating free fat... |
ORPHA:324575 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Jaw claudication, Weight loss, Syncope, Bradycardia |
ORPHA:221098 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:168558 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia |
OMIM:174900 |
Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Vomiting, Lethargy, Thrombocytopenia |
OMIM:243500 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... |
OMIM:616098 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine... |
ORPHA:681 |
Hypercholesterolemia, Familial, 1 |
|
Tendon xanthomatosis, Coronary artery atherosclerosis |
OMIM:143890 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Premature coronary artery atherosclerosis |
OMIM:610947 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Delayed patellar ossification... |
ORPHA:163649 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Agi... |
ORPHA:276575 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, Ileus, Coombs-posi... |
OMIM:304790 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:289548 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Gastroesophageal reflux, Fa... |
ORPHA:90045 |
Sarcoidosis |
|
Fever, Hemolytic anemia, Hypercalcemia, Eosinophilia, Hypothermia, Dyspnea, Increased T cell coun... |
ORPHA:797 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Recurrent apht... |
OMIM:611762 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Fever, Neutrophilia, Eosinophilia, Splenomegaly, Diarr... |
ORPHA:98849 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
High Altitude Pulmonary Edema |
|
Fever, Orthopnea, Anorexia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Failure to thrive, Vomiting |
OMIM:602722 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... |
ORPHA:33364 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypoventilation, Gastrointestinal hemorrhage, Spontaneous pneumothorax, Hyperspleni... |
ORPHA:731 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Increased body weight, Depre... |
ORPHA:905 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Respiratory failure, Vomiting, Failure to thrive |
OMIM:618252 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Irritability, Vomiting, Lethargy, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Chronic constipation, Gastroesophageal reflux, Failure to thrive, Thrombocytop... |
OMIM:616577 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Short stature, Elevated circulating creat... |
OMIM:255160 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Insulin resistance, Hyperinsulinemia, Gait a... |
ORPHA:363400 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Constipation, Increased circulating thyroglobulin level, Hypothermia |
ORPHA:226316 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Transient ischemic ... |
ORPHA:2929 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Gr... |
OMIM:614653 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Tangier Disease |
|
Hypertriglyceridemia, Impaired temperature sensation, Thrombocytopenia, Hepatosplenomegaly, Hypoc... |
ORPHA:31150 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Ab... |
ORPHA:1782 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Autosomal Agammaglobulinemia |
|
Osteomyelitis, Diarrhea, Neutropenia, Hepatitis, Agammaglobulinemia, Arthritis, Cellulitis, Failu... |
ORPHA:33110 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Short stature, Telangiectases of the cheeks |
OMIM:615139 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... |
OMIM:254900 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Short stature, Increased circulating IgA level, Neutropenia, Intrauterine growth ret... |
OMIM:616395 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Hyperuricemia, Gout |
ORPHA:411543 |
Gamma-Heavy Chain Disease |
|
Fever, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, ... |
ORPHA:100026 |
Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Neonatal asphyxia, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
Cyclic Neutropenia |
|
Sinusitis, Cyclic neutropenia, Perianal abscess, Peritonitis, Periodic fever, Enterocolitis, Recu... |
ORPHA:2686 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:309930 |
Tangier Disease |
|
Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Coronary artery atherosclerosis... |
OMIM:205400 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Dystonia, Ataxia, Impulsivity, Unsteady gait, Apneic episodes in infancy, Gait dis... |
ORPHA:35069 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Chronic constipation, Attention deficit ... |
ORPHA:476126 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Isotretinoin-Like Syndrome |
|
Lymphopenia, Gastroesophageal reflux, Hypocalcemia |
ORPHA:2306 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Hyperuricemia |
ORPHA:411536 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Respiratory insufficiency, Hypocalcemia, Hyperbilirubinemia, Anemia |
ORPHA:163979 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea |
ORPHA:90042 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Diabetes mellitus, Dyspnea, Diarrhea, Thrombocytopenia,... |
ORPHA:169105 |
Classic Galactosemia |
|
Dystonia, Ataxia, Postural tremor, Hypoglycemia, Abnormal erythrocyte enzyme level, Diarrhea, Dep... |
ORPHA:79239 |
Rett Syndrome |
|
Short stature, Cachexia, Kyphosis, Gait apraxia, Bruxism, Gait ataxia, Constipation, Gastroesopha... |
OMIM:312750 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Increased circulating IgA level, Dia... |
ORPHA:343 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
Double Outlet Right Ventricle |
|
Failure to thrive, Tachypnea, Hypocalcemia |
ORPHA:3426 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Diarrhea, Elevated circulating creatinine concentration, Hypoalbuminemia, Vomit... |
OMIM:608104 |
Boutonneuse Fever |
|
Fever, Diarrhea, Leukopenia, Respiratory failure, Nausea, Thrombocytopenia |
ORPHA:83313 |
Cartilage-Hair Hypoplasia |
|
Respiratory insufficiency, Hypocalcemia, Neutropenia, Failure to thrive, Anemia |
ORPHA:175 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Asthma, Giant platele... |
ORPHA:274 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-supp... |
ORPHA:404 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Short stature, Decreased circulating antibody level, Gait disturbance, ... |
ORPHA:1445 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Episodic tachypnea, Hypoglycemia, Episodic v... |
OMIM:615160 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Immunodeficiency 40 |
|
Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pn... |
OMIM:616433 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Diarrhea, Increased circulating IgG... |
OMIM:618495 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Small ... |
OMIM:260400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Weight loss |
OMIM:613239 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Dysphagia, Thrombo... |
OMIM:222300 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic ... |
ORPHA:276580 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... |
ORPHA:186 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Short stature, Small for gestational age, Postnatal growth retardation, Osteoporos... |
ORPHA:73272 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Severe short stature, Cachexia, Postnatal growth retardation... |
ORPHA:191 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Short neck, Overweight, Delayed proximal femoral epiphyseal ossification, Gro... |
ORPHA:226307 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumon... |
OMIM:616576 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Pancytopenia, Impaired T cell function, Elevated circulating creat... |
OMIM:614576 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Decreased ci... |
OMIM:617638 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating renin level, ... |
OMIM:612780 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Broad-based gait, Exaggerated startle response, Apnea, Dystonia, Decreased serum... |
ORPHA:438213 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal vertebral morphology |
OMIM:618709 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Dysmet... |
ORPHA:217260 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Fever, Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Severe short stature, Hyperlordosis, Aortic valve stenosis, Osteo... |
ORPHA:2780 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Congestive heart failure, Osteolysis, Weig... |
ORPHA:35687 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Liver abscess, Decreased circulating total IgM, Arthritis, Rh... |
ORPHA:183675 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Hypercalcemia, Anorexia, ... |
ORPHA:97280 |
Graft Versus Host Disease |
|
Fasciitis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Stif... |
ORPHA:39812 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Diarrhea, Jaundice, Retinal hemorrha... |
ORPHA:509 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopet... |
OMIM:612840 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased ... |
ORPHA:320 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Thrombocytopenia, Dysphagia |
OMIM:615750 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Nausea... |
ORPHA:231580 |
Non-Functioning Paraganglioma |
|
Tremor, Hypercalcemia, Nausea, Weight loss |
ORPHA:94080 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia, Gout |
OMIM:603860 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Vomiting, Cough, Nausea, Leukocytosis, Elevated circulating creatinine conc... |
ORPHA:340 |
Mepan Syndrome |
|
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Dysphagi... |
ORPHA:508093 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Atrioventricular canal defect, ... |
OMIM:618300 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Constipation, High nonceruloplasmin-bound serum coppe... |
ORPHA:457351 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Kyphoscoliosis, Disproportionate short stature, Decreased circulating antibody leve... |
OMIM:617425 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Ataxia, Increased mean platelet volume |
OMIM:616737 |
Aicardi-Goutieres Syndrome 5 |
|
Irritability, Thrombocytopenia |
OMIM:612952 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Fever, Leukocytosis, Recurrent fever, Elevated circulating C-reactive protein concentration |
OMIM:120100 |
Asthma, Short Stature, And Elevated Iga |
|
Short stature, Increased circulating IgA level |
OMIM:208600 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendon xanthomatosis, Pe... |
ORPHA:391665 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Increased circulat... |
ORPHA:231625 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fever, Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia... |
OMIM:300908 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Neonatal hypoglycemia, Tremor, Recurrent pneumonia, Neutropenia, Op... |
OMIM:616271 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Leukocytosis, Choreoathetosis, Increased circulating IgG level,... |
ORPHA:206594 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level |
OMIM:218030 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia |
OMIM:611209 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Viral hepatitis, Elevated circul... |
ORPHA:48435 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking... |
OMIM:600430 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... |
OMIM:600142 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Asthma, Rec... |
OMIM:620330 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Hypercalcemia, Anorexia, ... |
ORPHA:97283 |
Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Angiostrongyliasis |
|
Projectile vomiting, Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased ci... |
ORPHA:74 |
Muckle-Wells Syndrome |
|
Leukocytosis, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentratio... |
OMIM:191900 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Limited elbow movement, Hyperlo... |
ORPHA:268 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bowel incontinence, Splenomegaly, Asthm... |
ORPHA:567 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials, Dystonia, Postural tremor, Chorea, Impaired propriocepti... |
ORPHA:98755 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... |
ORPHA:447 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Thrombocytopenia |
OMIM:274240 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Short stature, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Hy... |
ORPHA:811 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Acute Radiation Syndrome |
|
Fever, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Decreased proportion of... |
ORPHA:1830 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE l... |
OMIM:602450 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count |
OMIM:612260 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Fever, Abnormality of the spleen, Wheezing, Diarrhea, Vomiting, Lymp... |
ORPHA:79456 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity, Short stature, Postnatal growth retardation, Decreased body weight, In... |
OMIM:608747 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Respiratory insufficiency due to muscle weakness, Diarrhea, Hypokalemia, Vomiti... |
ORPHA:18 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Anorexia, Leukocytosis, Impaired tactile sensation, Allodynia, Hyper... |
ORPHA:51890 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den... |
OMIM:214500 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Autoimmune thrombocytopenia, Vomiting, Failure to thrive... |
OMIM:245200 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Diarrhea, Jaundice, Hypermagnesemia, Growth delay, Vo... |
ORPHA:469 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Transient hypogammaglobulinemia of infancy, Scoliosis |
OMIM:251240 |
Hennekam Syndrome |
|
Splenomegaly, Respiratory insufficiency, Chylothorax, Hypocalcemia, Lymphopenia |
ORPHA:2136 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Acute hepatic failure, E... |
ORPHA:71212 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Vomiting, Hypercalcemia |
OMIM:239199 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Increased circulating interleukin 6 concentration, He... |
ORPHA:542323 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocytopenia, Bone m... |
OMIM:301078 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia, Inability to walk, Asthma, Respiratory insufficiency, Abnormal circulating lipid con... |
ORPHA:488632 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Ataxia, Abscess, Eosinophilia, Increased circulating IgE lev... |
OMIM:615816 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity, Emotion... |
OMIM:219090 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... |
ORPHA:99901 |
Sengers Syndrome |
|
Pulmonary arterial hypertension, Thrombocytopenia, Respiratory insufficiency |
OMIM:212350 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Diarrhea, Thrombocytopenia, Splenome... |
OMIM:222700 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Joint laxity, Short stature, Bidirectional ventricular ectopy, Polymorphic... |
ORPHA:37553 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Late-Infantile/Juvenile Krabbe Disease |
|
Ataxia, Tremor, Neuromuscular dysphagia, Impaired tactile sensation, Irritability, Gait disturban... |
ORPHA:206443 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Coronary artery atherosclerosis |
ORPHA:79084 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, ... |
OMIM:154275 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Leukopeni... |
ORPHA:1304 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia,... |
OMIM:229600 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbum... |
ORPHA:64743 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Coronary artery... |
ORPHA:2348 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... |
OMIM:607634 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Sacral dimple, Short stature, Aggressive behavior, Splenomegaly, Self-mutilation, ... |
OMIM:270400 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Weight loss, Increased circulating cortisol level, Abnormal breath sound, Cough |
ORPHA:97289 |
12Q14 Microdeletion Syndrome |
|
Short stature, Abnormality of the spleen, Osteopoikilosis, Scoliosis, Intrauterine growth retarda... |
ORPHA:94063 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Hypokalemia, Primary hyperaldosteronism, Pulmonary arterial hypertension, Decreased ci... |
OMIM:615474 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... |
OMIM:617101 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Hernia, Decrease... |
ORPHA:505248 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Respiratory failure requiring assisted ventilation, Hype... |
ORPHA:77293 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Tachycardia, Large for gestational age, Abnormal circulating fatty... |
ORPHA:263455 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Asthma, Acute lymphoblastic leukemia, Type II diabetes m... |
OMIM:606593 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, ... |
OMIM:154276 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Fever, Pain insensitivity, Ataxia, Hypoglycemia, Abnormal pattern of... |
ORPHA:90062 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Diarrhea, Tachypnea, Leukocytosis, Respiratory i... |
OMIM:618278 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Inc... |
ORPHA:449400 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Vici Syndrome |
|
Lymphopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Postnatal gro... |
OMIM:242840 |
Felty Syndrome |
|
Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Weight loss, Rhinitis, Neutropeni... |
ORPHA:47612 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Nausea, Decreased ... |
ORPHA:231632 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocki... |
OMIM:617302 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Dysphagia, Focal dystonia, Shuffling g... |
ORPHA:52368 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Telangiectasia of t... |
ORPHA:79474 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia, Exertional dyspnea |
OMIM:250800 |
Omenn Syndrome |
|
Fever, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, ... |
ORPHA:39041 |
Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Splenomegaly, Growth delay, Osteopetrosis, ... |
ORPHA:35107 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... |
ORPHA:85188 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Ileus, Athe... |
ORPHA:52503 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Short neck, Hyp... |
ORPHA:1798 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Asplenia, Thr... |
OMIM:185070 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy |
OMIM:613807 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Protracted diarrhea, Agammaglobulinemia, Colitis, Neutropenia, Cutaneous anergy,... |
OMIM:209920 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity di... |
OMIM:617600 |
Scorpion Envenomation |
|
Fever, Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Diarrhea, Tac... |
ORPHA:466677 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Small for gestational age |
OMIM:300076 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Glycosuria, Hypokalemia, Vomiting, Constipation, Hypophosphatem... |
ORPHA:411629 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Ataxia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Dysmetria, Athetosis, ... |
ORPHA:572798 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
Pierson Syndrome |
|
Hypertension, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Stridor, Constipation, Hyperbilirubinemia... |
OMIM:218700 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Anemia, Type I diabetes mellitus |
ORPHA:290 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Tufted Angioma |
|
Anemia, Paresthesia, Thrombocytopenia |
ORPHA:1063 |
Arterial Tortuosity Syndrome |
|
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... |
ORPHA:3342 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia, Heat intolerance |
ORPHA:284426 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Coronary artery atherosclerosis |
OMIM:608600 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Pediatric Systemic Lupus Erythematosus |
|
Fever, Dyspnea, Diarrhea, Leukopenia, Vomiting, Microangiopathic hemolytic anemia, Pleural effusi... |
ORPHA:93552 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Vascu... |
ORPHA:2637 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea... |
OMIM:616084 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Bowel incontinence, Cachexia, Respiratory insufficiency, Ch... |
ORPHA:702 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Type I diabetes mellitus, Emphysema, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Impaired pain sensation, Chron... |
OMIM:619005 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Digeorge Syndrome |
|
Thrombocytopenia, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Obesity, Splenomega... |
OMIM:188400 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Inability to walk, Thrombocytopenia, Recurrent pneumonia, Splenomegaly, Leu... |
OMIM:617303 |
Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia, Recurrent fever, Elevated circulating C-reactive protein con... |
OMIM:301054 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Fever, Abnormality of neutrophils, Dyspnea, Diarrhea, Thrombocytopen... |
ORPHA:36426 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Failure to thrive, Thrombocytopenia |
ORPHA:3322 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Intrauterine growth retardation, Decreased circulating antibody level |
OMIM:616910 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Colitis, Vomiting, Cough, Neutrophilia, Leukocytosis, C... |
ORPHA:3260 |
Velocardiofacial Syndrome |
|
Emotional lability, Hypocalcemia, Aggressive behavior |
OMIM:192430 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Constipatio... |
OMIM:619743 |
Bohring-Opitz Syndrome |
|
Short stature, Inability to walk, Limitation of joint mobility, Bilateral wrist flexion contractu... |
ORPHA:97297 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Riddle Syndrome |
|
Decreased circulating IgG level, Ataxia, Short stature |
OMIM:611943 |
Prolidase Deficiency |
|
Chronic lung disease, Thrombocytopenia, Asthma, Recurrent pneumonia, Splenomegaly, Failure to thr... |
OMIM:170100 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Thrombocytopenia, Spleno... |
ORPHA:50918 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Obesity, Weight loss, Con... |
ORPHA:79102 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Adult-Onset Still Disease |
|
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy... |
ORPHA:829 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neutropenia, Growth delay, Bradycardia, Dysphagia, Failure to thrive |
OMIM:617248 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:614520 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Osteoporosis, Abnormal blood ion concentration, Gastrointestinal inflamma... |
ORPHA:79404 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hyperactivity, Craniosynostosis, Hyperlipidemia, Obesity, Self-injurious be... |
ORPHA:254346 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Ischemic stroke, Coronary artery atherosclerosis, Moyamoya phenomenon |
ORPHA:280679 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Joint hyperflexibility, Polydipsia, Hyperuricemia, Arthritis |
ORPHA:93111 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lym... |
OMIM:601495 |
Gaucher Disease, Type Ii |
|
Apnea, Thrombocytopenia, Splenomegaly, Dysphagia, Stridor, Gastroesophageal reflux, Cough, Failur... |
OMIM:230900 |
Transaldolase Deficiency |
|
Pancytopenia, Small for gestational age, Thrombocytopenia, Asthma, Splenomegaly, Hepatosplenomega... |
OMIM:606003 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Ataxia, Elevated circulating ... |
ORPHA:480864 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Heart block, Raynaud phenomeno... |
ORPHA:416 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Lymphopenia |
OMIM:617575 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Short stature, Chronic diarrhea, Dysphagia, Decreased circ... |
OMIM:618131 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... |
ORPHA:1572 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitatio... |
OMIM:261990 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Dispropor... |
OMIM:224300 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Undetectable... |
ORPHA:423479 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Flexion contracture, Interphalangeal thumb joint contracture, Hypertension, Agitation |
OMIM:613870 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent fever, Thrombocytopenia |
OMIM:612783 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Pseudoxanthoma Elasticum |
|
Vascular dilatation, Arterial stenosis, Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:758 |
Castleman Disease |
|
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Dyspnea, Thrombocy... |
ORPHA:160 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Spider hemangioma, S... |
ORPHA:2137 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Broad-based gait, Neonatal respiratory distress, Apnea, Impulsivity, Hypomagnes... |
OMIM:619503 |
Aicardi-Goutieres Syndrome 7 |
|
Fever, Hemolytic anemia, Atrophic gastritis, Pancytopenia, Pneumonia, Hematemesis, Increased circ... |
OMIM:615846 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Generalized joint laxity, Increased circulating IgG level... |
OMIM:619472 |
Aicardi-Goutieres Syndrome 1 |
|
Fever, Splenomegaly, Inability to walk, Dystonia, Self-mutilation, Thrombocytopenia |
OMIM:225750 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia, Eosinophilic infiltration of the esophagus |
OMIM:615508 |
Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Ovoid vertebral bodies, Constipation, Hypocholesterolemia, Failure to thrive |
OMIM:244450 |
Helix Syndrome |
|
Hypermagnesemia, Xerostomia, Hypokalemia, Polydipsia, Heat intolerance |
OMIM:617671 |
Icf Syndrome |
|
Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Umbilical hernia... |
ORPHA:2268 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Ataxia, Elevated circulating creatine kinase concentrati... |
ORPHA:1933 |
Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Thymoma |
|
Fever, Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Ulcerati... |
ORPHA:99867 |
Birk-Landau-Perez Syndrome |
|
Neonatal respiratory distress, Dystonia, Failure to thrive in infancy, Hyperkalemia, Limb ataxia,... |
OMIM:617595 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi... |
ORPHA:1329 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... |
OMIM:615952 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Fever, Eosinophilia, Dyspnea, Weight loss, Interstitial pneumonitis, Lymphocytosis, Cough |
ORPHA:139402 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Dysmetria,... |
ORPHA:904 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... |
OMIM:618397 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Obesity |
OMIM:103580 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Splenomegaly, Hyperka... |
OMIM:608885 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia |
ORPHA:3002 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Gait disturbance, Dystonia, Abn... |
ORPHA:96 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... |
OMIM:615122 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Colitis, Bone mar... |
OMIM:615190 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Akinesia, Thrombocytopenia, Splenomegaly, Dysphagia, Opisthotonus, H... |
OMIM:608013 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Webb-Dattani Syndrome |
|
Hypernatremia, Gastroesophageal reflux, Obesity |
OMIM:615926 |
Familial Thrombocytosis |
|
Miscarriage, Peripheral arterial stenosis, Transient ischemic attack |
ORPHA:71493 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Chronic diarrhea, Leukopenia, Neutropenia, Failure to thrive, Thro... |
OMIM:613989 |
Monosomy 13Q34 |
|
Epistaxis, Hypercalcemia, Insulin resistance, Obesity, Hematochezia |
ORPHA:96168 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increas... |
OMIM:127550 |
Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Platyspondyly, Delayed ossification... |
OMIM:271510 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Renal art... |
ORPHA:565612 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia... |
OMIM:612561 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Neutropenia, Steatorrhea, Failure to thrive, Thrombocytopenia, Exocr... |
OMIM:617941 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Abnormal amplitude of flash visual... |
ORPHA:168491 |
Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Elevated circulating C-reactive protein concentration, Anorexia, Tre... |
ORPHA:297 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density, Periapical tooth a... |
ORPHA:3352 |
Menkes Disease |
|
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Arterial stenosis, In... |
ORPHA:565 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Mannosidosis, Alpha B, Lysosomal |
|
Inguinal hernia, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, Limb ataxia, G... |
OMIM:248500 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Abnormality of temperature reg... |
OMIM:619004 |
Atelis Syndrome 2 |
|
Dyspnea, Thrombocytopenia, Hyperinsulinemia, Dysmetria, Gastroesophageal reflux, Attention defici... |
OMIM:620185 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Fever, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Grange Syndrome |
|
Coronary artery stenosis, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retardation |
OMIM:618541 |
Raine Syndrome |
|
Increased bone mineral density, Short stature, Short neck, Subperiosteal bone formation, Elevated... |
OMIM:259775 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Pulmonary arteri... |
OMIM:230800 |
Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... |
OMIM:144750 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor |
OMIM:609153 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Dysphagia, L... |
ORPHA:94125 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Apnea, Hypoglycemia, Opisthotonus, Vomiting, Lethargy, Failure to thrive |
OMIM:210200 |
Zika Virus Disease |
|
Fever, Vomiting, Thrombocytopenia |
ORPHA:448237 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Meacham Syndrome |
|
Death in infancy, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous... |
OMIM:608978 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Short stature, Enteroviral hepatitis, Diarrhea, Absent circulating B cells, Delayed puberty, Sept... |
OMIM:307200 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Desmosterolosis |
|
Failure to thrive, Rhizomelia, Generalized osteosclerosis, Abnormal circulating cholesterol conce... |
OMIM:602398 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia, Vomiting, Methemoglobinemia |
ORPHA:464453 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Leukopenia, Decreased DLCO, Thrombocytopenia |
OMIM:613990 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age, Thrombocytopenia |
OMIM:208085 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:301056 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex |
ORPHA:85184 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors, Limb dystonia, ... |
ORPHA:2388 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Dyspnea, Asthma, Chronic diarrhea, Wheezing, Bronchiectasis, Leukocytosis, Chronic coug... |
OMIM:620233 |
Psoriasis 14, Pustular |
|
Fever, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventr... |
OMIM:259900 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Chronic diarrhea, Diar... |
OMIM:260920 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Thrombocytopenia, Tongue thrusting, Self-injurious b... |
ORPHA:261323 |
Infantile Krabbe Disease |
|
Respiratory distress, Cachexia, Opisthotonus, Irritability, Respiratory failure, Vomiting, Gastro... |
ORPHA:206436 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventri... |
ORPHA:70591 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Short stature, Craniosynostosis, Transient hypogammaglobulinemia of infa... |
ORPHA:3132 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Thrombocytopenia, Neutropenia, Dysphagia, Weig... |
ORPHA:537 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Hypercalcemia |
ORPHA:2591 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Fever, Hemolytic anemia, Pneumonia, Splenomegaly, Thrombocytopenia |
ORPHA:169090 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Premature coronary artery atherosclerosis |
ORPHA:140905 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Cachexia, Anorexia, Hyperlordosis, Splenomegaly, Abnormal subcutaneous fat... |
ORPHA:1328 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypercalcemia, Nausea, Weight loss |
ORPHA:276621 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Q Fever |
|
Respiratory distress, Fever, Pneumonia, Anorexia, Thrombocytopenia, Splenomegaly, Weight loss, He... |
ORPHA:781 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Elevated circulating alanine amin... |
OMIM:613070 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... |
ORPHA:264675 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus |
OMIM:616113 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Atrioventricular can... |
OMIM:314390 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Epistaxis, Thrombocytopenia |
OMIM:619463 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Carpal synostosis, Increased bone mineral density, Camptodactyly of finger, Tarsal s... |
ORPHA:90652 |
Vici Syndrome |
|
Short stature, Joint stiffness, Decreased circulating IgG2 level, Cardiomyopathy, Decreased circu... |
ORPHA:1493 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Impaired ADP-induced platelet ... |
OMIM:608233 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Fever, Hematemesis, Bloody diarrhea, Hematochezia, Melena, Hyperbili... |
ORPHA:464321 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... |
OMIM:618165 |
Farber Disease |
|
Respiratory distress, Thrombocytopenia, Chronic diarrhea, Respiratory insufficiency, Hepatospleno... |
ORPHA:333 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Hyperactivity, Aggressive behavior, Hypertension, Self-injurious behavior, Abnormal... |
ORPHA:449291 |
Pycnodysostosis |
|
Increased bone mineral density, Short stature, Spondylolysis, Osteolytic defects of the distal ph... |
OMIM:265800 |
Fetal Gaucher Disease |
|
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Hyperactivity, Joint stiffness, Asymmetric septal hypertrophy, Umbilical hernia,... |
OMIM:252900 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Decreased circulating antibody level, Growth delay, Atrophic scars, H... |
ORPHA:79396 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Precocious atherosclerosis, Proximal upper limb muscle hypertrophy, ... |
ORPHA:280365 |
Xq12-Q13.3 Duplication Syndrome |
|
Elevated circulating creatine kinase concentration, Impaired pain sensation, Bulimia, Agitation, ... |
ORPHA:314389 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Hypoglycemic seizures, Self-injurious... |
OMIM:616364 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Abnormal repetitive mannerisms, Hypot... |
ORPHA:79155 |
Friedreich Ataxia |
|
Abnormal EKG, Ataxia, Congestive heart failure, Decreased pyruvate carboxylase activity, Limb ata... |
OMIM:229300 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Short stature, Flexion contracture, Absence of... |
OMIM:601675 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:137920 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Patent ductus arteriosus, Coronary artery atherosclerosis, Knee flexion ... |
ORPHA:435638 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Thrombocytosis, Pure red cell aplasia, Erythro... |
ORPHA:124 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Caroli Syndrome |
|
Fever, Liver abscess, Conjugated hyperbilirubinemia, Hematemesis, Leukocytosis, Hypersplenism, Me... |
ORPHA:480520 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Tachycardia, Short stature, Elevated circulating creatine kinase c... |
OMIM:614921 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Diarrhea, Peri... |
OMIM:249100 |
Iga Pemphigus |
|
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Ulcerativ... |
ORPHA:555905 |
Ppoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Anorexia, Diarrhea, Weight lo... |
ORPHA:97278 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Decreased circulating antibody level |
ORPHA:99811 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
OMIM:619657 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus totalis, Patent foramen o... |
OMIM:619702 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Failure to thrive, Thrombocytopenia, Dystonia |
OMIM:251290 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Coronary artery atherosclerosis |
OMIM:618620 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
3Q29 Microdeletion Syndrome |
|
Aggressive behavior, Joint hyperflexibility, Gastroesophageal reflux, Gait disturbance, Attention... |
ORPHA:65286 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldosteronism, Increased circulating reni... |
ORPHA:508 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Failure to thrive, Gait disturbance, Respiratory insuffi... |
ORPHA:2971 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Leukopenia, Pulmonary arterial hypertension, Failure to thrive, Thro... |
ORPHA:974 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Distal sensor... |
OMIM:601455 |
Immunodeficiency 56 |
|
Failure to thrive, Chronic diarrhea, Chronic hepatitis due to cryptosporidium infection, Hepatic ... |
OMIM:615207 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Quebec Platelet Disorder |
|
Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Chorea, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, ... |
ORPHA:464343 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Diabetes mellitus, Hypercalcemia, Increased circulating cortisol level, Paresthesi... |
ORPHA:249 |
Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Tachycardia, Hyperactivity, Increased circulating thyroglobulin level |
OMIM:609152 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Short stature, Dysgammag... |
OMIM:251260 |
Netherton Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE ... |
OMIM:256500 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Reduced bone mineral density, Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Difficulty walking, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures |
OMIM:277440 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Small for gestational age, Scarring, Ataxia, Abnormal isohemagglutinin level, Micro... |
ORPHA:99843 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Increased circulating corticosterone level, Hypokalemia, Fa... |
ORPHA:90793 |
Kaposiform Lymphangiomatosis |
|
Fever, Epistaxis, Dyspnea, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnormal spleen mo... |
ORPHA:464329 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... |
ORPHA:309246 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hype... |
OMIM:201750 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Diarrhea, Increased circulating cortisol level, Esophagitis |
OMIM:131100 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Knee flexion contracture, Decreased circulating total IgM, Scleros... |
OMIM:618162 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:607364 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Inguinal hernia, Ataxia, Dysmetria, Hepatosplenomegaly, Telangiectasia, Umbilical h... |
ORPHA:93400 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Diarrhea, Bronchiectasis, Enterocolitis... |
ORPHA:391487 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Epistaxis, Thrombocytopenia |
OMIM:277480 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... |
ORPHA:2330 |
Caroli Disease |
|
Fever, Liver abscess, Anorexia, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight... |
ORPHA:53035 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Cardiac conduction abnormality, Oral-pharyngeal dysphagia, Anorexia, Aggressive behavior,... |
ORPHA:2131 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... |
OMIM:167250 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression |
OMIM:600740 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Parotitis, Raynaud phenomenon, Vasculitis, Decreased... |
ORPHA:289390 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... |
OMIM:614074 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Vom... |
ORPHA:244242 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Premature coronary artery atherosclerosis, Stroke-like episode, Right aortic... |
OMIM:300845 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Somatic sensory dysfunction, Ataxia, Difficulty walking |
ORPHA:320401 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular... |
ORPHA:860 |
Cutis Marmorata Telangiectatica Congenita |
|
Arteriovenous malformation, Patent ductus arteriosus, Arterial stenosis |
ORPHA:1556 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Recurrent pneumonia, Gastroesophageal reflux, Persistence of hemoglobin F |
OMIM:619769 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Unexplained fevers, A... |
ORPHA:209905 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Respiratory failure, Hyperkalemia, Respiratory ins... |
OMIM:602088 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:603467 |
Cowden Syndrome 1 |
|
Kyphosis, Decreased circulating antibody level, Scoliosis, Lymphopenia, Subcutaneous lipoma |
OMIM:158350 |
Perlman Syndrome |
|
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Congenital diaphragmatic hernia, Overgrowth, Bradycardia, Pulmonary insufficienc... |
OMIM:614437 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Lcat Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
Alopecia Antibody Deficiency |
|
Short stature, Decreased circulating antibody level |
ORPHA:1006 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Hypercalcemia, Nausea, Weight loss |
ORPHA:29072 |
Grfoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Anorexia, Diarrhea, Weight lo... |
ORPHA:97261 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
Hutchinson-Gilford Progeria Syndrome |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
OMIM:176670 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Weight loss, Hemato... |
ORPHA:913 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Depression |
OMIM:170390 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Chronic diarrhea, Recurrent pneumonia, A... |
ORPHA:647 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Xerostomia, Hepat... |
ORPHA:227990 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Back pain, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Reti... |
ORPHA:319251 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Short stature, Kyphosis, Moderately short stature, Delayed pubic ... |
OMIM:119600 |
Proximal Renal Tubular Acidosis |
|
Diarrhea, Bicarbonaturia, Hypokalemia, Vomiting, Glycosuria, Polydipsia, Failure to thrive |
ORPHA:47159 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... |
OMIM:259730 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abnormality of thrombocytes, Dyspnea, Weight lo... |
ORPHA:79430 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Acanthocytosis, Tremor, Phonic tics, Depression, Chore... |
OMIM:234200 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Inability to walk, Intercostal muscle weakness, Respiratory insufficiency, Highl... |
ORPHA:258 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Xerostomia, Hepat... |
ORPHA:227982 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Apolipoprotein A-I Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:425 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227645 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Attention deficit h... |
OMIM:227646 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Fever, Hypoglycemia, Elevated circulating alpha-fe... |
OMIM:276700 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Abnormality of visual evoked potentials, Diabetes mellitus, Ataxia |
ORPHA:1215 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Nelson Syndrome |
|
Secondary hypercortisolism, Hypokalemia, Increased circulating cortisol level, Type II diabetes m... |
ORPHA:199244 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Occipital Horn Syndrome |
|
Gastroparesis, Hypothermia, Gastroesophageal reflux, Esophagitis, Dysphagia |
ORPHA:198 |
Urachal Cyst |
|
Fever, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Peritonitis |
ORPHA:488 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Sponastrime Dysplasia |
|
Joint laxity, Lumbar hyperlordosis, Small for gestational age, Rhizomelia, Kyphoscoliosis, Delaye... |
ORPHA:93357 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis |
ORPHA:209902 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, P... |
ORPHA:284227 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Asthma, Chronic diarrhea, Respiratory insufficiency... |
ORPHA:235 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Malignant Hyperthermia Of Anesthesia |
|
Fever, Hypercapnia, Tachypnea, Hyperkalemia, Malignant hyperthermia, Hyperphosphatemia, Elevated ... |
ORPHA:423 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Depression, Self-injurious behavior, Constipation, Gastroesophageal reflux, ... |
ORPHA:847 |
Parathyroid Carcinoma |
|
Hypercalcemia, Dysphagia, Weight loss, Constipation, Hypophosphatemia, Polydipsia |
ORPHA:143 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Rhizomelia, Platyspondyly, Neonatal short-limb short stature, Syn... |
ORPHA:50945 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia |
ORPHA:261250 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Increased circulating cortisol level, Hypoglycemia |
ORPHA:786 |
Charge Syndrome |
|
Hypocalcemia, Lymphopenia, Self-mutilation, Dysphagia |
OMIM:214800 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Hematemesis, Diarrhea, Depression, Melena, Weight loss, Increased circul... |
ORPHA:652 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Thrombocytopenia, Intestinal bleeding, Dystonia, Anemia |
OMIM:612199 |
Noonan Syndrome 4 |
|
Thrombocytopenia, Large for gestational age |
OMIM:610733 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Severe B lymphocytopenia, Postnatal growth retardation, Contracture of the dista... |
ORPHA:83617 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Akinesia, Aggressive behavior, Myocarditis, Congestive heart failure,... |
ORPHA:3385 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Pancreatic fibrosis, Situs inversus totalis, Cryptorchidism, Hyd... |
ORPHA:564 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Postural tremor, Ataxia, Splenomegaly, Truncal obesity, Aspiration pneumonia, Truncal ataxia, Thr... |
OMIM:301072 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Aganglionic megacolon, Ventricular septal defect, Aspl... |
ORPHA:210122 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Peritonitis, Vascu... |
ORPHA:228123 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Acute Generalized Exanthematous Pustulosis |
|
Fever, Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia |
ORPHA:293173 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentration, Conjugate... |
OMIM:243800 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Netherton Syndrome |
|
Increased circulating IgE level, Short stature, Decreased circulating antibody level |
ORPHA:634 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of one pulmo... |
ORPHA:3384 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochoki... |
OMIM:610217 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Sinus bradycardia, Chronic constipation, Gastroesophageal reflux, Difficulty walking, D... |
OMIM:619482 |
Whim Syndrome |
|
Neutropenia, Abnormal neutrophil morphology, Limb ataxia, Decreased circulating antibody level, C... |
ORPHA:51636 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Mucopolysaccharidosis Type 2 |
|
Inguinal hernia, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Limitation of jo... |
ORPHA:580 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Varicose veins, Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis |
ORPHA:536532 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the... |
OMIM:208540 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Cachexia |
ORPHA:1389 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Cachexia, Abnormality of the sp... |
ORPHA:2072 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Unsteady gait, Ataxia |
OMIM:256600 |
Lathosterolosis |
|
Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st... |
ORPHA:444072 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Diarrhea, Fasting hyperinsulinemia, Increased circulating cortisol level, Esophagi... |
ORPHA:276152 |
Metachromatic Leukodystrophy, Adult Form |
|
Bowel incontinence, Chorea, Depression, Progressive gait ataxia, Difficulty walking, Dystonia, Ab... |
ORPHA:309271 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia |
OMIM:112200 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Steppage gait, Positive Romberg sign, Distal sensory imp... |
OMIM:601152 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Dysphagia, Constipation, Hypophosphatemia, Polydipsia |
ORPHA:99880 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Macroglossia, Abnorma... |
ORPHA:217085 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Ogden Syndrome |
|
Torticollis, Apnea, Polycythemia, Maternal diabetes, Diarrhea, Irritability, Pulmonary arterial h... |
OMIM:300855 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Macroglossia, Abnorma... |
ORPHA:217093 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Arteriovenous f... |
ORPHA:286 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Vomiting, Episodic vomit... |
OMIM:207800 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Gastroesophageal reflux, Const... |
OMIM:301040 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level |
OMIM:202010 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Ulcerative colitis, Increased circulating IgG level, Inflammation ... |
ORPHA:562639 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Hypokalemia, Vomiting, Weight loss |
ORPHA:91347 |
Metachromatic Leukodystrophy |
|
Ataxia, Bowel incontinence, Tremor, Tip-toe gait, Gait disturbance, Dystonia, Abnormality of visu... |
ORPHA:512 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive pro... |
ORPHA:449395 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Stroke, Coronary artery atherosclerosis |
OMIM:264800 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena |
ORPHA:853 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Abnormality of visual evoked potent... |
ORPHA:309256 |
Pyomyositis |
|
Fever, Recurrent cutaneous abscess formation, Leukocytosis, Weight loss |
ORPHA:764 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Chorea, Depression, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Umbilical hernia, Ventricular septal defect |
OMIM:618846 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Laryngotracheomalacia, Dystonia |
OMIM:616875 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Porphyria, Congenital Erythropoietic |
|
Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Unexplained fevers, Neonatal alloimmune thrombocytopenia, Tremor, Hepatospleno... |
ORPHA:51 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the ... |
ORPHA:363618 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Diarrhea, Hypertension, Arrhythmia, Anemia |
ORPHA:139411 |
Dextrocardia |
|
Abnormal EKG, Abnormality of the spleen, T-wave inversion |
ORPHA:1666 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Gastroesophageal reflux |
ORPHA:141 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials, Asthma |
OMIM:614457 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating anti... |
OMIM:274000 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Weight loss, Incre... |
ORPHA:79078 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Dyskeratosis Congenita |
|
Diabetes mellitus, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:1775 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Thrombocytopenia, Restrictive ventilatory defect, L... |
OMIM:305000 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Dystonia, Abnormality of visual evoked potentials, Emotional lability, I... |
ORPHA:309263 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Pseudobulbar paralysis, Gait disturbance |
OMIM:125310 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Cardiac Diverticulum |
|
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... |
ORPHA:1686 |
Hardikar Syndrome |
|
Hematemesis, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Irritability, Vomiting, Hyperbiliru... |
OMIM:301068 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology |
ORPHA:280195 |
Estrogen Resistance Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:785 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Postnatal growth retardatio... |
OMIM:269150 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Cornelia De Lange Syndrome 1 |
|
Self-injurious behavior, Gastroesophageal reflux, Pneumonia, Thrombocytopenia |
OMIM:122470 |
Sclerosteosis 1 |
|
Sclerotic scapulae, Facial palsy secondary to cranial hyperostosis, Overgrowth, Sclerotic vertebr... |
OMIM:269500 |
Distal Deletion 19P |
|
Vaginal hernia, Decreased circulating antibody level, Joint hyperflexibility, Umbilical hernia, K... |
ORPHA:96129 |
Neurofibromatosis Type 1 |
|
Arterial stenosis |
ORPHA:636 |
Sotos Syndrome |
|
Hypercalcemia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Acute lymphoblastic leukemia, ... |
ORPHA:821 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Hyperlipidemia, Choreoathetosis, Growth delay, Delayed puberty, Abnormal T-wave |
ORPHA:3464 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Obesity, Chronic constipation, Gl... |
OMIM:194050 |
Fibular Hemimelia |
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Thrombocytopenia, Difficulty walking |
ORPHA:93323 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Failure to thrive in infancy, Transient ischemic attack, Gastroparesis, Sag... |
ORPHA:500150 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Abnormality of visual evoked potentials, Decreased circulating cortisol level, Achalasia, Ataxia |
OMIM:231550 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology |
ORPHA:100070 |
Osteogenesis Imperfecta |
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Intestinal obstruction, Neonatal respiratory distress, Ataxia, Small for gestational age, Somatic... |
ORPHA:666 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Abnormality of visual evoked potentials, Laryngotracheomalacia, Dystonic gait |
ORPHA:480898 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... |
ORPHA:91500 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... |
ORPHA:353281 |
Vertebral Hypersegmentation And Orofacial Anomalies |
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Inguinal hernia, Joint hypermobility, Six lumbar vertebrae |
OMIM:619122 |
Cerebrotendinous Xanthomatosis |
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Resting tremor, Somatic sensory dysfunction, Ataxia, Aggressive behavior, Chronic diarrhea, Depre... |
ORPHA:909 |
Stargardt Disease |
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Abnormality of visual evoked potentials |
ORPHA:827 |
Steinert Myotonic Dystrophy |
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Elevated hepatic transaminase, Atrial fibrillation, Prolonged QRS complex, Left ventricular systo... |
ORPHA:273 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Microcytic anemia, Thrombocytopenia, Splenomegaly, Gastroesophageal reflux, Vomiting, Type I diab... |
OMIM:619525 |
Multiple Endocrine Neoplasia Type 2 |
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Diarrhea, Constipation, Hypercalcemia |
ORPHA:653 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormality of visual evoked potentials |
OMIM:617523 |
Absence Of The Pulmonary Artery |
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Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Growth ... |
ORPHA:980 |
Oculocutaneous Albinism Type 1 |
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Abnormality of visual evoked potentials |
ORPHA:352731 |
Cockayne Syndrome Type 3 |
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Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Aortic root aneurysm, Stroke, ... |
ORPHA:90324 |
Jacobsen Syndrome |
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Failure to thrive, Thrombocytopenia |
OMIM:147791 |
Jacobsen Syndrome |
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Thrombocytopenia, Constipation, Attention deficit hyperactivity disorder |
ORPHA:2308 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vert... |
OMIM:271520 |
Postaxial Acrofacial Dysostosis |
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Growth delay, Radioulnar synostosis, Postnatal growth retardation, Supernumerary vertebrae |
OMIM:263750 |
Ruvalcaba Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:3121 |
Alport Syndrome 1, X-Linked |
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Thrombocytopenia |
OMIM:301050 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Anemia |
ORPHA:84 |
Aceruloplasminemia |
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Congestive heart failure, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hep... |
ORPHA:48818 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of visual evoked potentials, Dysphagia |
ORPHA:485421 |
Cockayne Syndrome B |
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Ataxia, Small for gestational age, Tremor, Splenomegaly, Severe failure to thrive, Failure to thr... |
OMIM:133540 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Short stature, Bowel incontinence, Asplenia, Inability to walk, Abnormal repeti... |
ORPHA:261537 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Xerostomia, Incr... |
ORPHA:449432 |
Mowat-Wilson Syndrome |
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Asplenia, Flexion contracture, Vomiting, Abnormal repetitive mannerisms, Ataxia, Short stature, D... |
ORPHA:2152 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... |
ORPHA:353277 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Inguinal hernia, Congenital diaphragmatic hernia, Splenomegaly, Birth length greater than 97th pe... |
OMIM:312870 |
Cockayne Syndrome A |
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Ataxia, Tremor, Splenomegaly, Gait disturbance, Abnormality of visual evoked potentials, Failure ... |
OMIM:216400 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Hypoventilation, Ataxia, Vomiting, Tracheomalacia, Failure to thrive, Abnormality of visual evoke... |
OMIM:203700 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology |
OMIM:614298 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Short stature, Bowel incontinence, Asplenia, Inability to walk, Abnormal repeti... |
ORPHA:261552 |
Wolfram Syndrome 2 |
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Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Friedreich Ataxia 2 |
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Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased... |
OMIM:601992 |
Hyperlipoproteinemia, Type Id |
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Premature coronary artery atherosclerosis |
OMIM:615947 |
Goodpasture Syndrome |
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Increased blood urea nitrogen |
OMIM:233450 |
Micro Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:2510 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Large placenta, Cryptorchidism, Splenomegaly, Abnormal pancreas morph... |
ORPHA:116 |
Woodhouse-Sakati Syndrome |
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Choreoathetosis, Abnormal T-wave, Hyperlipidemia |
OMIM:241080 |
Roberts Syndrome |
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Thrombocytopenia |
ORPHA:3103 |
Semilobar Holoprosencephaly |
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Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... |
ORPHA:93924 |
Noonan Syndrome 1 |
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Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
Oculocutaneous Albinism Type 1A |
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Abnormality of visual evoked potentials |
ORPHA:79431 |
Microform Holoprosencephaly |
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Tetralogy of Fallot, Panhypopituitarism, Holoprosencephaly |
ORPHA:280200 |
Waardenburg Syndrome, Type 1 |
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Supernumerary vertebrae |
OMIM:193500 |