| 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 |
| C0003507 |
BXGD000203 |
Aortic Valve Stenosis |
Cardiovascular Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010036 |
BXGD000642 |
Corneal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013371 |
BXGD000823 |
Shigella Infections |
Digestive System Diseases; Infections |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017160 |
BXGD001099 |
Gastroenteritis |
Digestive System Diseases |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0019342 |
BXGD001322 |
Genital Herpes |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0019693 |
BXGD001346 |
HIV Infections |
Infections; Immune System Diseases |
| C0020456 |
BXGD001392 |
Hyperglycemia |
Nutritional and Metabolic Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026697 |
BXGD001918 |
Mucolipidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0032927 |
BXGD002381 |
Precancerous Conditions |
Neoplasms |
| C0035078 |
BXGD002505 |
Kidney Failure |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042782 |
BXGD003001 |
Visceromegaly |
Pathological Conditions, Signs and Symptoms |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0085131 |
BXGD003129 |
Gangliosidosis GM1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0086795 |
BXGD003311 |
Pfaundler-Hurler Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0154934 |
BXGD003757 |
Peripheral anterior synechiae |
|
| C0162871 |
BXGD003996 |
Aortic Aneurysm, Abdominal |
Cardiovascular Diseases |
| C0206638 |
BXGD004203 |
Giant Cell Tumor of Bone |
Neoplasms |
| C0239105 |
BXGD004962 |
Conjunctival telangiectasis |
|
| C0242172 |
BXGD005138 |
Pelvic Inflammatory Disease |
Female Urogenital Diseases and Pregnancy Complications; Infections |
| C0265482 |
BXGD005536 |
Ring Chromosome 20 Syndrome |
Pathological Conditions, Signs and Symptoms |
| C0267971 |
BXGD005798 |
Storage disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268226 |
BXGD005858 |
Type I Mucolipidosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0268228 |
BXGD005859 |
Neuraminidase 1 deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0268233 |
BXGD005860 |
GALACTOSIALIDOSIS |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0278601 |
BXGD006547 |
Inflammatory Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0340629 |
BXGD007354 |
Aortic aneurysm without mention of rupture NOS |
Cardiovascular Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0374997 |
BXGD007967 |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site |
|
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0455988 |
BXGD008860 |
Hydrops Fetalis, Non-Immune |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0751587 |
BXGD010513 |
CADASIL Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases |
| C0853879 |
BXGD010982 |
Invasive carcinoma of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1527349 |
BXGD013277 |
Ductal Breast Carcinoma |
Neoplasms |
| C1800706 |
BXGD013755 |
Idiopathic Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C1834129 |
BXGD013957 |
Abnormal vertebral morphology |
|
| C1838577 |
BXGD014321 |
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1856559 |
BXGD015616 |
Decreased beta-galactosidase activity |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2216370 |
BXGD016949 |
Cherry red spot of the macula |
|
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2718068 |
BXGD017524 |
beta-Galactosidase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2733158 |
BXGD017562 |
Cerebral Small Vessel Diseases |
Nervous System Diseases; Cardiovascular Diseases |
| C3665444 |
BXGD019288 |
Neutrophilia (disorder) |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases |
| C3711381 |
BXGD019387 |
Hereditary Diffuse Leukoencephalopathy with Spheroids |
Nervous System Diseases |
| C3714636 |
BXGD019421 |
Pneumonitis |
Infections; Respiratory Tract Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4017292 |
BXGD020431 |
GALACTOSIALIDOSIS, LATE INFANTILE |
|
| C4017293 |
BXGD020432 |
GALACTOSIALIDOSIS, ADULT |
|
| C4017294 |
BXGD020433 |
GALACTOSIALIDOSIS, EARLY INFANTILE |
|
| C4021536 |
BXGD020659 |
Mild conductive hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |