| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002986 |
BXGD000165 |
Fabry Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0003486 |
BXGD000197 |
Aortic Aneurysm |
Cardiovascular Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004135 |
BXGD000257 |
Ataxia Telangiectasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013404 |
BXGD000833 |
Dyspnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0016522 |
BXGD001067 |
Foramen Ovale, Patent |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0016719 |
BXGD001074 |
Friedreich Ataxia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0017665 |
BXGD001141 |
Membranous glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C0017919 |
BXGD001150 |
Glycogen Storage Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0017921 |
BXGD001152 |
Glycogen storage disease type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0017923 |
BXGD001154 |
Glycogen Storage Disease Type IV |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027868 |
BXGD002053 |
Neuromuscular Diseases |
Nervous System Diseases |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035232 |
BXGD002517 |
Respiratory Paralysis |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0043202 |
BXGD003037 |
Wolff-Parkinson-White Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0086445 |
BXGD003285 |
Idiopathic Membranous Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162871 |
BXGD003996 |
Aortic Aneurysm, Abdominal |
Cardiovascular Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0221629 |
BXGD004467 |
Proximal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234958 |
BXGD004702 |
Muscle degeneration |
Musculoskeletal Diseases |
| C0238461 |
BXGD004936 |
Anaplastic thyroid carcinoma |
Neoplasms |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242973 |
BXGD005202 |
Ventricular Dysfunction |
Cardiovascular Diseases |
| C0268237 |
BXGD005861 |
Cytochrome-c Oxidase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270984 |
BXGD006149 |
Metabolic myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0282160 |
BXGD006797 |
Aplasia Cutis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0342751 |
BXGD007542 |
Generalized glycogen storage disease of infants |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0342753 |
BXGD007543 |
Glycogen storage disease due to acid maltase deficiency, late-onset |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0520878 |
BXGD009117 |
Shortened PR interval |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0751172 |
BXGD010335 |
Adult Glycogen Storage Disease Type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751173 |
BXGD010336 |
Glycogen Storage Disease Type II, Infantile |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751174 |
BXGD010337 |
Glycogen Storage Disease Type II, Juvenile |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917713 |
BXGD011404 |
Becker Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1285162 |
BXGD012167 |
Degenerative disorder |
Pathological Conditions, Signs and Symptoms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1704378 |
BXGD013554 |
Heymann Nephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C1850656 |
BXGD015167 |
Firm muscles |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1856689 |
BXGD015630 |
FRIEDREICH ATAXIA 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1968741 |
BXGD016733 |
Glycogen Storage Disease IIIC |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1969443 |
BXGD016778 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3539168 |
BXGD019085 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A |
|
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C3888924 |
BXGD019993 |
Glycogen storage disease due to acid maltase deficiency, infantile onset |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C3888925 |
BXGD019994 |
Pompe's disease adult onset |
|
| C4016981 |
BXGD020394 |
GLYCOGEN STORAGE DISEASE II, ADULT FORM |
|
| C4021152 |
BXGD020565 |
Abnormal CNS myelination |
|
| C4476540 |
BXGD022824 |
Dilatation of the cerebral artery |
Nervous System Diseases; Cardiovascular Diseases |
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4732730 |
BXGD023895 |
Blood spots |
|