| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0008445 |
BXGD000541 |
Chondrodysplasia Punctata |
Musculoskeletal Diseases |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0023522 |
BXGD001680 |
Leukodystrophy, Metachromatic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0025521 |
BXGD001876 |
Inborn Errors of Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026703 |
BXGD001919 |
Mucopolysaccharidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027404 |
BXGD001984 |
Narcolepsy |
Nervous System Diseases; Mental Disorders |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0079588 |
BXGD003084 |
Ichthyosis, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0086647 |
BXGD003298 |
Mucopolysaccharidosis Type IIIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0086651 |
BXGD003302 |
Mucopolysaccharidosis, MPS-IV-A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0086795 |
BXGD003311 |
Pfaundler-Hurler Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0151205 |
BXGD003406 |
Periorbital edema |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0268263 |
BXGD005873 |
Multiple Sulfatase Deficiency Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0277959 |
BXGD006487 |
Coarse hair |
|
| C0338474 |
BXGD007183 |
Central nervous system demyelination |
|
| C0349588 |
BXGD007933 |
Short stature |
|
| C0426891 |
BXGD008595 |
Broad thumbs |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0596887 |
BXGD009648 |
mathematical ability |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0742468 |
BXGD010063 |
Central nervous system lesion |
|
| C0878575 |
BXGD011372 |
Peripheral demyelination |
Nervous System Diseases |
| C1142533 |
BXGD011758 |
Smooth philtrum |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1720864 |
BXGD013693 |
Sulfatidosis, Juvenile, Austin Type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1806780 |
BXGD013759 |
Increased CSF protein |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836696 |
BXGD014151 |
Lower limb hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1839783 |
BXGD014407 |
Large forehead |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1853241 |
BXGD015321 |
Flat face |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1863353 |
BXGD016168 |
Hypoplastic vertebral bodies |
|
| C1867131 |
BXGD016440 |
Broad hallux |
|
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2673431 |
BXGD017202 |
Abnormality of the periventricular white matter |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2720163 |
BXGD017530 |
Placental Steroid Sulfatase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4014261 |
BXGD020138 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4020690 |
BXGD020468 |
Abnormality of peripheral nerve conduction |
|
| C4021343 |
BXGD020613 |
Broad hallux phalanx |
|
| C4024726 |
BXGD021387 |
Mucopolysacchariduria |
|
| C4024908 |
BXGD021467 |
Rapid neurologic deterioration |
|
| C4553313 |
BXGD023540 |
Periorbital Edema, CTCAE |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|