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Diseases

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2

cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Entity Type
Diseases
Relation Groups
1
Relation Preview
5

Basic Information

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Core Information

Disease Name
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Standard Disease Name
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D018249
OMIM ID
516006|553000
UMLS ID
C1510502
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.|MSH2017_2016_08_12:A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease5 Targets
04
MAP1LC3C
microtubule associated protein 1 light chain 3 gamma
microtubule associated protein 1 light chain 3 gamma