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Diseases

Cerebrotendinous Xanthomatosis

cerebrotendinous xanthomatosis

Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

Core Information

Disease Name
Cerebrotendinous Xanthomatosis
Standard Disease Name
cerebrotendinous xanthomatosis
MeSH Tree
No data
ICD-10
E75.5

Identifiers

DO ID
No data
MeSH ID
D019294
OMIM ID
213700
UMLS ID
C0238052
HPO ID
No data

Description and Extensions

Description
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xantho
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
01
CYP27A1
cytochrome P450 family 27 subfamily A member 1
cytochrome P450 family 27 subfamily A member 1
02
CYP27B1
cytochrome P450 family 27 subfamily B member 1
cytochrome P450 family 27 subfamily B member 1
03
CYP7A1
cytochrome P450 family 7 subfamily A member 1
cytochrome P450 family 7 subfamily A member 1
04
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
3-hydroxy-3-methylglutaryl-CoA reductase
07
NR1I2
nuclear receptor subfamily 1 group I member 2
nuclear receptor subfamily 1 group I member 2