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Herb Integrative Database
Traditional Medicine Data Platform
Diseases

Canavan Disease, Infantile

canavan disease, infantile

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

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

Core Information

Disease Name
Canavan Disease, Infantile
Standard Disease Name
canavan disease, infantile
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
C538158
OMIM ID
248950
UMLS ID
C0796038
HPO ID
No data

Description and Extensions

Description
SNOMEDCT_US_2016_09_01:Belongs to the group of multiple congenital anomalies/mental retardation syndromes with intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Autosomal recessive inheritance suggested.|JABL99:A syndrome of psychomotor retardation, characteristic facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect. Named after Dr. Kenneth B. McDonough, who referred to the authors the original family affected with this syndrome