Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-re... |
ORPHA:100924 |
Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Anxiety, Failure to thrive, Fever, Depression, Hyponatremia, Lethargy, Pol... |
ORPHA:178029 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Short stat... |
OMIM:607271 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Diarrhea, Neutropenia, Small for gestati... |
ORPHA:391673 |
Juvenile Paget Disease |
|
Hyperuricemia, Recurrent fractures, Short stature, Coarse metaphyseal trabecularization, Hyperten... |
ORPHA:2801 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating inosine concentr... |
OMIM:613179 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Ataxia, Hyponatremia |
OMIM:616949 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hyperostosis frontalis interna, Hypertension, Hypercholesterolemia, Obesity, Osteo... |
ORPHA:77296 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Irritabi... |
OMIM:267700 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Leukopenia, Hyperuricemia, Anemia, Pa... |
OMIM:613845 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Lymphocytosis, Failure to thrive, Recurrent pneumonia, Colonic eosinophilia, Inf... |
OMIM:617718 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Weig... |
ORPHA:90362 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperlordosis, Splenomegaly, Flexion contracture, Spinal rigidity, Elevated hepatic transaminase,... |
OMIM:613327 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Irritability, Ataxia, Hepatosplenomegaly, Pancytop... |
OMIM:603553 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eos... |
OMIM:619802 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Reduced natural killer cell count, Vomiting, Decreased proportion of CD4-positive... |
OMIM:619510 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
Immunodeficiency 91 And Hyperinflammation |
|
Intermittent diarrhea, Neutrophilia, Persistent fever, Hepatosplenomegaly, Pleural effusion, Fail... |
OMIM:619644 |
Sitosterolemia 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis |
OMIM:618666 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Diarrhea, Failure to thrive, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponat... |
ORPHA:1930 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissue, ... |
OMIM:604367 |
Refractory Celiac Disease |
|
Elevated alkaline phosphatase of bone origin, Weight loss, Normocytic anemia, Hypophosphatemia, E... |
ORPHA:398063 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Antalgic gait, Fever, Leukocytosis, Waddling gait |
ORPHA:168621 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hyperuricemia, Hypertension, Arrhythmia |
ORPHA:3222 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis |
OMIM:618463 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Increased circulating free fatty acid level, Small for gestational age, Jaundice, Eleva... |
ORPHA:26793 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteine... |
OMIM:617744 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Congenital Analbuminemia |
|
Low pulse pressure, Increased circulating antibody level, Small for gestational age, Increased al... |
ORPHA:86816 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Elevated circulating alanine aminotransferase concentration, Decr... |
OMIM:616636 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Intention tremor, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Recurrent pneumonia, Inflammation of the la... |
OMIM:619281 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Fever, Splenomegaly, Anemia |
ORPHA:100025 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Increased circulating interleukin 6 concen... |
OMIM:301082 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Neuroleptic Malignant Syndrome |
|
Hypothermia, Elevated circulating creatine kinase concentration, Hyponatremia, Dysphagia, Thrombo... |
ORPHA:94093 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Anemia, Vomiting, Diarrhea, Decreased circulating antibody level, Hypoprotein... |
OMIM:226300 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Fever, Depression, Anxiety, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hy... |
OMIM:612526 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Diarrhea, Weight loss, Low-grade fever, Normocytic anemia, Decreased circulating c... |
ORPHA:199299 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochlore... |
OMIM:214700 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Malaria |
|
Anemia, Gait imbalance, Hyperbilirubinemia, Respiratory distress, Fever, Elevated circulating C-r... |
ORPHA:673 |
Whipple Disease |
|
Respiratory insufficiency, Anemia, Diarrhea, Cachexia, Insulin resistance, Ataxia, Cough, Fever, ... |
ORPHA:3452 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Failure to thrive, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Decreased DLCO, Increased LDL cholesterol concentration, Dyspnea,... |
OMIM:607616 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
X-Linked Agammaglobulinemia |
|
Anemia, Weight loss, Failure to thrive, Recurrent pneumonia, Recurrent cutaneous abscess formatio... |
ORPHA:47 |
Hereditary Coproporphyria |
|
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Anemia, Episodic vomitin... |
ORPHA:79273 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Vomiting, Hyperactivity, Diarrhea, Elevated hepatic transaminase, Acute hyp... |
ORPHA:247585 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... |
OMIM:619707 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count, Chronic diarrhea |
OMIM:615592 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Vomiting, Diarrhea, Respiratory paralysis, Pseudobulbar paralysis, Epist... |
ORPHA:449285 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Lymphocytosis, Hyperbilirubi... |
ORPHA:1667 |
Dengue Fever |
|
Hypotension, Leukopenia, Diarrhea, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointesti... |
ORPHA:99828 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Diarrhea, B lymphocytopenia, Decreas... |
OMIM:612692 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife... |
ORPHA:331206 |
Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly |
ORPHA:3180 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Diarrhea, Protracted diarrhea, Decreased circulating IgE... |
OMIM:615758 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Decreased body weight, Pulmonic stenosis, Failure to thrive, Ventricular escape rhythm, Mitral re... |
OMIM:616201 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight, Short stature |
OMIM:616311 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Decreased ci... |
OMIM:615559 |
Immunodeficiency 70 |
|
Achalasia, Decreased circulating total IgM, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:618969 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia, Paresthesia |
OMIM:615361 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
Mirage Syndrome |
|
Gastroesophageal reflux, Leukopenia, Anemia, Achalasia, Aspiration pneumonia, Decreased body weig... |
OMIM:617053 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hypothermia, Irritability, Respiratory distre... |
ORPHA:292 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... |
OMIM:613502 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Hypoplasia of the thymus, Decreased proportion of CD4-positive help... |
OMIM:617241 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Hyperuricemia, Diarrhea, Weight loss, Hypothermia, Nonketotic hypoglycemia, A... |
ORPHA:20 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Anemia, Weight loss, Fever, Hypercalcemia, Thrombocytopenia, Irritability |
ORPHA:69077 |
Shigellosis |
|
Bloody diarrhea, Vomiting, Bloody mucoid diarrhea, Paralytic ileus, Microangiopathic hemolytic an... |
ORPHA:810 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Decreased lymphocyte prol... |
ORPHA:169154 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Fever, Throm... |
OMIM:603552 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Asthma, Refractory anemia, Monocytosis |
OMIM:616871 |
Wiskott-Aldrich Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Diarrhea, Absent microvilli on the surface o... |
OMIM:301000 |
Alg8-Cdg |
|
Anemia, Vomiting, Diarrhea, Small for gestational age, Ataxia, Failure to thrive, Hyponatremia, T... |
ORPHA:79325 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Clavicul... |
OMIM:615198 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Diarrhea, Decreased circulating antibody level, B lymphocytopeni... |
OMIM:614069 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Elevated... |
OMIM:615895 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Diarrhea, Neutropenia, Irritability, Ataxia, Failure to thrive, Thrombocytopenia, Ath... |
OMIM:229050 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Diarrhea, Decreased lymphocyte proliferation in response to mitogen, Hepatitis, Increased circula... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Diarrhea, B lymphocytopenia, Neutropenia in presence of anti-neu... |
OMIM:607594 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Hyperkalemic Periodic Paralysis |
|
Respiratory insufficiency, Paresthesia, Malignant hyperthermia, Hypokalemia, Hyperkalemia, Gait d... |
ORPHA:682 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Increased circulating ferritin concentration, He... |
OMIM:613101 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Shor... |
OMIM:616005 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Decreased plasma free carnitine, Congestive heart failure, Failure to thrive, Br... |
OMIM:619048 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Abnormal T cell morphology, Short stature, Small for gestation... |
OMIM:215250 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Ataxia, Auto... |
ORPHA:760 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Growth delay, Hypercholesterolemia |
OMIM:306000 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Recurrent aphthous stomatitis, Vomiting, Diarrhea, Weight loss, Short stature,... |
OMIM:212750 |
Cholera |
|
Vomiting, Aspiration pneumonia, Diarrhea, Hypokalemia, Irritability, Abnormal blood ion concentra... |
ORPHA:173 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to mi... |
ORPHA:276 |
Late-Onset Familial Hypoaldosteronism |
|
Vomiting, Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin le... |
ORPHA:556037 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Failure to thrive, Sinusitis, Fever, Eosinop... |
OMIM:226990 |
Ménétrier Disease |
|
Gastroesophageal reflux, Vomiting, Diarrhea, Weight loss, Hypochromic microcytic anemia, Giant hy... |
ORPHA:2494 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Diarrhea, Neutropenia, Acute lym... |
ORPHA:486 |
Hepatocellular Carcinoma |
|
Anemia, Diarrhea, Weight loss, Liver abscess, Type II diabetes mellitus, Hypokalemia, Hyperbiliru... |
ORPHA:88673 |
Hypoadrenocorticism, Familial |
|
Vomiting, Hyperkalemia, Apnea, Hypoglycemia, Hyponatremia |
OMIM:240200 |
Colchicine Poisoning |
|
Vomiting, Diarrhea, Hypophosphatemia, Hypokalemia, Respiratory distress, Abnormal blood ion conce... |
ORPHA:31824 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Fever, Mono... |
ORPHA:2688 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Flexion contracture, Vomiting, Diarrhea, Kyphosis, Abnormal subcutaneous fat tiss... |
OMIM:212065 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Anemia, Ulcerative colitis, Elevated circulating C-reactive protein concentratio... |
OMIM:619398 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Depression, Anxiety, Hyponatremia, Dystonia |
ORPHA:163921 |
Riboflavin Deficiency |
|
Hypothermia, Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia |
OMIM:615026 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hyperuricemia, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Loss of subcu... |
ORPHA:79083 |
Immunodeficiency 69 |
|
Anemia, Diarrhea, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferr... |
OMIM:618963 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Inability to walk, Choreoathetosis, Acute lymphoblas... |
OMIM:208900 |
Legionnaires Disease |
|
Respiratory insufficiency, Diarrhea, Ataxia, Lymphopenia, Restrictive ventilatory defect, Cough, ... |
ORPHA:549 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Vomiting, Paresthesia, Diarrhea, Hypokalemia, Cachexia, Hematochezia, Xerostomia, Hypocal... |
OMIM:175500 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Vomiting, Paresthesia, Diarrhea, Small for ... |
OMIM:601678 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Vomiting, Paresthesia, Diarrhea, Small for ... |
OMIM:241200 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Increased circulating IgM level, Leukocytosis,... |
ORPHA:37748 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:613090 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis, Multiple lipomas |
ORPHA:1879 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Short stature, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational age, Ricket... |
OMIM:616026 |
Xq28 (MECP2) duplication |
|
Gait ataxia, Gastroesophageal reflux, Inability to walk, Failure to thrive, Constipation, Decreas... |
DECIPHER:45 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Inability to walk, Hepatosplenomegaly, Pleural effusion, Hyponatremi... |
ORPHA:167 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Chronic diarrhea, Thrombocytopenia, Splenome... |
OMIM:300972 |
Renal Hypoplasia, Bilateral |
|
Anemia, Small for gestational age, Glycosuria, Hyperkalemia, Failure to thrive, Hyponatremia, Neo... |
ORPHA:97362 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Kyphosis, Ataxia, Decreased circulating IgA level, Scoliosis, Un... |
OMIM:300861 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Alstrom Syndrome |
|
Hyperuricemia, Short stature, Hyperostosis frontalis interna, Hypertension, Dilated cardiomyopath... |
OMIM:203800 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Increased susceptibility to fractures, Reduced natural killer cell count, Decreased circulating t... |
OMIM:619752 |
Thrombocytopenia 3 |
|
Epistaxis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Diarrhea, Spastic gait, Type I di... |
ORPHA:96180 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Ulc... |
OMIM:618394 |
Corticosterone Methyloxidase Type I Deficiency |
|
Vomiting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Recur... |
OMIM:203400 |
Fanconi-Bickel Syndrome |
|
Osteomalacia, Reduced subcutaneous adipose tissue, Hypophosphatemia, Hypokalemia, Elevated circul... |
OMIM:227810 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Vomiting, Diarrhea, Hyperkalemia, Failure to thrive, Hyponatremia |
OMIM:264350 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Vomiting, Diarrhea, Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopath... |
ORPHA:90038 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Dysphagia, Chondrocalcinosis, Thrombocytopenia... |
OMIM:277900 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Vomiting, Diarrhea, Steatorrhea, Failure to thrive, Hypo... |
OMIM:246700 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Short stature, Gout, Elevated circulating creatinine concentration, Intrauterine g... |
OMIM:617056 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Decreased T cell activation, Diarrhea, Hemolytic anemia, Hepatitis, Dysgammaglobuli... |
OMIM:308230 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Short stature, Hypertension, Gout, Delayed puberty, Growth delay, Hyperlipidemia, ... |
OMIM:232200 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... |
OMIM:155100 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Short stature, Increased bone mineral dens... |
OMIM:239000 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Vomiting, Weight loss, Hyperkalemia, Incre... |
ORPHA:171876 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Chronic diarrhea, Increased vertebral height, Short stature, Hepatitis, ... |
OMIM:613385 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Anxiety, Dyspnea, Depression, Hypocalcemic s... |
ORPHA:36913 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
Thrombocytopenia 1 |
|
Epistaxis, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... |
OMIM:313900 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Failure to thrive, Increased circulating 18-hydr... |
OMIM:610600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Diarrhea, T lymphocytopenia, Short stature, Failure to thrive,... |
OMIM:242860 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Vomiting, Diarrhea, Hyperkalemia, Increased circulating renin level, Failure ... |
OMIM:177735 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Respiratory failure, Hyperglycinemia, Hypothermia, Hypertaurinemia, Fa... |
OMIM:245400 |
Immunodeficiency 92 |
|
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Esophagitis, Decreased proportion of class-switc... |
OMIM:619652 |
Supravalvular Aortic Stenosis |
|
Peripheral arterial stenosis, Pulmonary artery stenosis |
OMIM:185500 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Episodic vomiting, Pancytopenia, Failur... |
OMIM:616050 |
Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Vomiting, Small for gestational age, Hypokalemia, Increased circulating renin... |
ORPHA:89938 |
Spontaneous Periodic Hypothermia |
|
Diarrhea, Hypothermia, Gait disturbance, Ataxia, Tremor, Abnormal pattern of respiration |
ORPHA:29822 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Primary Erythromelalgia |
|
Abnormality of thrombocytes, Hypothermia, Leukemia |
ORPHA:90026 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Diarrhea, Decreased circula... |
OMIM:616100 |
Hypophosphatasia |
|
Respiratory insufficiency, Anemia, Emphysema, Hypercalcemia, Irritability, Failure to thrive in i... |
ORPHA:436 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Diarrhea, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hy... |
ORPHA:95409 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Small for gestational age, Failure to thrive, Hypertrophic cardiomyopathy, Hyper... |
OMIM:614702 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Osteopoikilosis, Scoliosis, Joint stiffness, Connective tissue nevi |
OMIM:166700 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia |
OMIM:614736 |
Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin le... |
ORPHA:556030 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, Osteomyelitis, Spinal canal stenosis, Cutaneous abscess, Joint hypermobility, De... |
OMIM:618282 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Somatic sensory dysfunction, Respiratory pa... |
ORPHA:79473 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Failure to thrive, Severe B lympho... |
OMIM:603554 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Splenomegaly, Atrophic gastritis, Decreased circulating total IgM, B lymphoc... |
OMIM:614700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Diarrhea, B lymphocytopenia, Decreased circulating IgG2 level, A... |
OMIM:102700 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Impaired T cell function, Decreased circulating IgA level, Partial absence of specific ... |
OMIM:240500 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Growth delay, Short stature |
OMIM:261750 |
Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Irregular vertebral endplates, Schmorl's node, Platyspondyly |
OMIM:604864 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Neutropenia, Choreoathetosis, Respiratory distress, Failure to thrive, Hyperammonemia, Th... |
ORPHA:79312 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Short stature, Failure to thrive, Delayed puberty, Decre... |
OMIM:616834 |
Ataxia-Pancytopenia Syndrome |
|
Impaired vibration sensation in the lower limbs, Acute myelomonocytic leukemia, Anemia, Ataxia, P... |
OMIM:159550 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase, Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 8 With Lymphoproliferation |
|
Gastroesophageal reflux, Complete or near-complete absence of specific antibody response to tetan... |
OMIM:615401 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Intrauterine growth retardation, Dysphagia |
OMIM:616276 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Constipation, Prol... |
ORPHA:95717 |
Systemic Lupus Erythematosus 17 |
|
Chorea, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Fever, Anxiety, Thrombocytopenia, R... |
OMIM:301080 |
Infection-Related Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Vomiting, Brain abscess, Pleural empyema, Diarrhea, Hemolytic anemia, Hyperkalem... |
ORPHA:544482 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Beta-Thalassemia |
|
Respiratory insufficiency, Abnormality of temperature regulation, Anemia, Abnormality of iron hom... |
ORPHA:848 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Juvenile rheumatoid arthritis, Failure to thrive, Decreased circul... |
ORPHA:275 |
Multiple Myeloma |
|
Hyperproteinemia, Anemia, Weight loss, Decreased circulating antibody level, Osteopenia, Increase... |
ORPHA:29073 |
Transcobalamin Ii Deficiency |
|
Vomiting, Decreased circulating total IgM, Diarrhea, Neutropenia, Reticulocytopenia, Ataxia, Eryt... |
OMIM:275350 |
Burkitt Lymphoma |
|
Hyperuricemia, Intestinal obstruction, Gastrointestinal hemorrhage, Decreased proportion of CD4-p... |
ORPHA:543 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Oral aversion, Hyperuricemia, Weight loss, Hypertension, Agitation, Hyperammonemia |
ORPHA:134 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia, Diarrhea |
OMIM:226200 |
Selective Igm Deficiency |
|
Crohn's disease, Decreased circulating total IgM, Rheumatoid arthritis, Cellulitis, Decreased pro... |
ORPHA:331235 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Anemia, Neutropenia, Choreoathetosis, Respiratory distress, Hyperammonemia, Thrombocytope... |
ORPHA:289916 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Rhinitis, Vomiting, Diarrhea, Hyperinsulinemia, Hypothermia, Insulin resistance, Increase... |
ORPHA:230 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Gastroesophageal reflux, Hyperlordosis, Abnormal T cell subset distribution, Reduced natural kill... |
ORPHA:221139 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lipodystrophy, Increased circulati... |
OMIM:618048 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Cln3 Disease |
|
Shuffling gait, T-wave inversion, Ataxia, Loss of ambulation, Dysphagia, Bradycardia, Vacuolated ... |
ORPHA:228346 |
Nephrotic Syndrome, Type 1 |
|
Gastroesophageal reflux, Small for gestational age, Hypoproteinemia, Growth delay, Hyperlipidemia... |
OMIM:256300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Hypothermia, Elevated circulating creatine kinase concentration, Throm... |
OMIM:618775 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Short stature, Hypertension, Gout, Delayed puberty, Hyperlipidemia, Xanthelasma, O... |
OMIM:232220 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypothermia, Hypoglycemia, Apneic episodes in infancy |
OMIM:610006 |
Slc35A1-Cdg |
|
Neutropenia, Hypoxemia, Respiratory distress, Abnormal platelet granules, Giant platelets, Thromb... |
ORPHA:238459 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Undetectable visual evoked potentials, Hyperbilirubinemia, Pancytopenia, Hepatosplenomega... |
OMIM:259720 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis, Dyspnea... |
ORPHA:54057 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Ataxia, Steatorrhea, Decreased HDL cholesterol concentra... |
OMIM:615558 |
Lysosomal Acid Lipase Deficiency |
|
Pulmonary arterial hypertension, Anemia, Vomiting, Diarrhea, Weight loss, Hypersplenism, Cachexia... |
ORPHA:275761 |
Grange Syndrome |
|
Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul... |
OMIM:210250 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Respiratory insufficiency, Hypothermia, Hyperalaninemia, Dystonia |
OMIM:614654 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia... |
OMIM:602522 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Cachexia, Abnormal blood ion concentration, Gastritis, Colitis, Pneum... |
ORPHA:37042 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Neutrophilia, Lipodystrophy, Increased circulating IgA level, Increased circulating IgM... |
OMIM:617099 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia, Abnormal leukocyte morphology, Anemia |
ORPHA:53 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Fulminant hepatitis, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
Secondary Intestinal Lymphangiectasia |
|
Vomiting, Decreased prealbumin level, Decreased circulating total IgM, Decreased circulating anti... |
ORPHA:90363 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Anemia |
OMIM:238700 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Bronchiectasis, Decreased circulating cortisol level, Hyperkalemia, Recurrent sinusitis, Autoimmu... |
ORPHA:293978 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Diarrhea, Neutropenia, Absent circulat... |
OMIM:613501 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Steatorrhea, Failure to thrive, Impaired proprioception, Hypocholesterolemia,... |
ORPHA:71 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Hemivertebrae, Short neck |
OMIM:608681 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cellulitis, C... |
OMIM:618944 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Loss of ambulation, Tremor, Thrombocytopenia, Irritability, Dystonia, Splenomegaly |
OMIM:615010 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentra... |
ORPHA:159 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Coronary artery atherosclerosis, Cerebral artery atherosclerosis, Arterial stenosis |
ORPHA:1192 |
Meningococcal Meningitis |
|
Paresthesia, Hypothermia, Projectile vomiting, Irritability, Fever, Elevated circulating C-reacti... |
ORPHA:33475 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Weight loss, Abnormal B cell count, Osteolysis, Osteoporosis |
ORPHA:100024 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Hypoxemia, Airway obstruction, Restrictive ventilatory defect, Dyspnea, Coug... |
ORPHA:90060 |
Acute Intermittent Porphyria |
|
Respiratory insufficiency, Somatic sensory dysfunction, Diarrhea, Respiratory paralysis, Anxiety,... |
ORPHA:79276 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Addison Disease |
|
Hyperuricemia, Diarrhea, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hy... |
ORPHA:85138 |
Bacterial Toxic-Shock Syndrome |
|
Vomiting, Diarrhea, Peritonitis, Increased circulating metamyelocyte count, Respiratory distress,... |
ORPHA:36234 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Facet joint arthrosis, Diffi... |
ORPHA:566943 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Intracranial hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Hyperlipidemia, J... |
ORPHA:35909 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Bernard-Soulier Syndrome |
|
Epistaxis, Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
Propionic Acidemia |
|
Anemia, Vomiting, Hyperglycinemia, Neutropenia, Pancytopenia, Apnea, Failure to thrive, Hypoglyce... |
OMIM:606054 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures,... |
ORPHA:199296 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Hypovolemia, Angina pecto... |
ORPHA:90041 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia |
OMIM:221400 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Congestive heart failure, Hypertension, Myocardial infarction, Increased LDL cholesterol... |
OMIM:615703 |
Juvenile Nephropathic Cystinosis |
|
Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Vomiting, Hypovolemia, Hypopho... |
ORPHA:411634 |
Hereditary Xanthinuria |
|
Sulfite oxidase deficiency, Rheumatoid arthritis, Reduced xanthine dehydrogenase level, Hyperxant... |
ORPHA:3467 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Keloids, Increased bone mineral density, Sclerosis ... |
ORPHA:166119 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Failure to thrive, Chronic diarrhea, Thrombocyt... |
OMIM:615285 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Vomiting, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Alg12-Cdg |
|
Abnormal circulating IgG level, Gastroesophageal reflux, Abnormal bone ossification, Complete or ... |
ORPHA:79324 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Hypocalcemia, Splenomegaly |
OMIM:259700 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Ataxia, Kyphoscoliosi... |
OMIM:136300 |
Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Short stature, Decreased circulating antibody level, Gait disturbance, E... |
ORPHA:100 |
Sepsis In Premature Infants |
|
Hypotension, Splenomegaly, Vomiting, Decreased body weight, Increased circulating interleukin 6 c... |
ORPHA:90051 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Hyperuricemia |
ORPHA:261222 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, T lymphocytopenia, Gastritis, Colitis, Hypernatremia, Splenomegaly, Osteomyelitis, Decr... |
OMIM:619381 |
Immunodeficiency 19 |
|
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... |
OMIM:615617 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Increased circulating IgE level, Failure to thrive, Inflammation of the large in... |
OMIM:615767 |
Immunodeficiency 27A |
|
Anemia, Diarrhea, Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Histiocytosis, F... |
OMIM:209950 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Leukopenia, Anemia, Choreoathetosis, Ataxia, Hyperammonemia, Macrocyti... |
ORPHA:27 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Giant platelets, Congenital thrombocytopenia, Neutrophil inclus... |
ORPHA:182050 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thromboc... |
ORPHA:507 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Vomiting, Irritability, Failure to thrive, Constipation, Unexplained fevers, Hypernatremia, Polyd... |
OMIM:125800 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Diarrhea, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cho... |
OMIM:607765 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Vomiting, Irritability, Failure to thrive, Constipation, Unexplained fevers, Hypernatremia, Polyd... |
OMIM:304800 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia, Polyphagia, Neonatal hypoglycemia |
OMIM:606407 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Increased susceptibility to fractures, Hyperuricemia, Short stature, Hypert... |
ORPHA:79259 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Familial Hypoaldosteronism |
|
Diarrhea, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Letha... |
ORPHA:427 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Increased adipose tissue, Obesity, Hypertension, Polyphagia, Hyp... |
ORPHA:71529 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, Diarrhea, T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to t... |
OMIM:601457 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Vomiting, Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Fe... |
ORPHA:90790 |
Japanese Encephalitis |
|
Vomiting, Diarrhea, Respiratory paralysis, Irregular respiration, Choreoathetosis, Neutrophilia, ... |
ORPHA:79139 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Vomiting, Hypothermia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, ... |
OMIM:251880 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Retinal telangiectasia, Decreased circulating IgG level |
OMIM:267900 |
Familial Glucocorticoid Deficiency |
|
Vomiting, Diarrhea, Weight loss, Ketotic hypoglycemia, Decreased circulating cortisol level, Hype... |
ORPHA:361 |
Johanson-Blizzard Syndrome |
|
Anemia, Short stature, Failure to thrive, Hypoproteinemia, Exocrine pancreatic insufficiency, Int... |
ORPHA:2315 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia |
OMIM:610181 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Diarrhea, Hypothermia, Reticulocytosis, Elevated circulating creatine kinase con... |
ORPHA:99826 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Neutropenia, Methylmal... |
ORPHA:79282 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Vomiting, Diarrhea, Neutrophilia, Epistaxis, Cough... |
ORPHA:91547 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Kyphosis, Increased circulating antibody lev... |
ORPHA:77259 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Lesch-Nyhan Syndrome |
|
Gout, Hyperuricemia |
ORPHA:510 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, C... |
OMIM:601859 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Pulmonary arterial hypertension, Elevated hepatic transaminase, Hyperp... |
OMIM:616299 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Cellulitis, Ulcerative colitis, Decreased proport... |
OMIM:614878 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Elevated circulating creatine kinase ... |
OMIM:212138 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Tricuspid regurgitation, Decreased circulating total IgM, Neutropenia, B lymphoc... |
OMIM:619705 |
Schimke Immunoosseous Dysplasia |
|
Short neck, Ovoid vertebral bodies, Thrombocytopenia, Disproportionate short-trunk short stature,... |
OMIM:242900 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Vomiting, Hyperglycinemia, Neutropenia, Methylmalonic acidemia, Respiratory distress,... |
OMIM:251000 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... |
ORPHA:95716 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess |
ORPHA:89937 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Short stature, Small for gestational age, Failure to thrive, Hypocholesterolemia, ... |
OMIM:610883 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Isolated Agammaglobulinemia |
|
Anemia, Diarrhea, Abnormality of neutrophils, Failure to thrive, Recurrent cutaneous abscess form... |
ORPHA:229717 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Gastroesophageal reflux, Exaggerated startle response, Blepharospasm, Intermittent hypothermia, D... |
OMIM:608643 |
12q14 microdeletion syndrome |
|
Proportionate short stature, Osteopoikilosis |
DECIPHER:76 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Abnormality of the vertebral column, Ectopic ossification |
OMIM:602475 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Large for gestational age, Decreased circulating IgA level, Thrombocytopenia, Umbilic... |
OMIM:616638 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Severe platyspondyly, Inability to walk, T lymphocytopenia, Elbow flexion contracture, Decreased ... |
ORPHA:508533 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Ataxia, Hypouricemia |
ORPHA:1187 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Gait disturbance, Spastic ataxia, Ataxia, Decreased circulating antibody level |
ORPHA:2572 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss, Irritability, Respiratory distress, Ataxia, Hyperammonemia, Thrombocytopenia, Lethar... |
ORPHA:79242 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Thrombocytopenia, Unexplained fevers, Elevated circulating creatine kinase con... |
OMIM:614727 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Aggressive behavior, Self-injurious behavior, Hyperglycemia, Anxiety, Asthma, Hy... |
ORPHA:293987 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Growth delay, Atrioventricular block, Joint contracture of the 5th finger, Bra... |
OMIM:614407 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Thickened cortex of bones, Difficulty walking, Joint stiffness |
ORPHA:564003 |
Timothy Syndrome |
|
Hypocalcemia, Pneumonia, Hypoglycemia |
OMIM:601005 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Weight loss, Abnorma... |
ORPHA:330001 |
Laterality Defects, Autosomal Dominant |
|
Heterotaxy, Situs inversus totalis |
OMIM:601086 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia, Anemia |
OMIM:619302 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Cog4-Cdg |
|
Intermittent diarrhea, Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irrita... |
ORPHA:263501 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... |
OMIM:169400 |
Abetalipoproteinemia |
|
Reticulocytosis, Steppage gait, Chronic diarrhea, Impaired distal proprioception, Hypocholesterol... |
ORPHA:14 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Sulfite oxidase deficiency, Hypertaurinemia, Molybdenum cofactor deficiency, Hypocystinemia, Hypo... |
OMIM:615501 |
Analbuminemia |
|
Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest... |
OMIM:616000 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Gastroesophageal reflux, Panhypogammaglobulinemia, Short stature, Epiphyseal stippling, Ataxia, P... |
ORPHA:251009 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Osteomesopyknosis |
|
Increased bone mineral density, Low back pain |
OMIM:166450 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Vomiting, Apnea, Failure to thrive, Fever, Hypercalcemia, ... |
OMIM:241500 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Gait ataxia, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferatio... |
ORPHA:572 |
Babesiosis |
|
Respiratory insufficiency, Leukopenia, Hemolytic anemia, Cough, Fever, Depression, Thrombocytopen... |
ORPHA:108 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Dyspnea, Macrocytic anemia, Thrombocytopeni... |
ORPHA:98826 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Pulmonary arterial hypertension, Anemia, Absence of subcutaneous fat, Decreased circulating total... |
OMIM:620005 |
Dyskeratosis Congenita, Digenic |
|
Gastroesophageal reflux, Anemia, Decreased circulating total IgM, Short stature, Failure to thriv... |
OMIM:620040 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Gastritis, Bone marrow hypocellularity, Eosino... |
ORPHA:3261 |
Tetanus |
|
Stiff neck, Hypertension, Elevated circulating creatine kinase concentration, Dysphagia, Bradycar... |
ORPHA:3299 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Pleural effusion, Auto... |
OMIM:613011 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Riddle Syndrome |
|
Telangiectasia, Decreased circulating total IgM, Weight loss, Diarrhea, Short stature, Arthritis,... |
ORPHA:420741 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Pearson Syndrome |
|
Anemia, Hyperalaninemia, Chronic diarrhea, Small for gestational age, Glycosuria, Hypophosphatemi... |
ORPHA:699 |
Pituitary Apoplexy |
|
Increased circulating cortisol level, Hypoglycemia, Fever, Hyponatremia, Normochromic anemia |
ORPHA:95613 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Constipation, Absent ossification of capital femoral epiphysis, Prolon... |
ORPHA:226313 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hypertriglycerid... |
ORPHA:158048 |
Infant Botulism |
|