01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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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