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
- Aicardi's syndrome
- Standard Disease Name
- aicardi's syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D058540
- OMIM ID
- 304050
- UMLS ID
- C0175713
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A sporadic genetic syndrome characterized by agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. It is associated with the presence of choroid plexus neoplasms in the brain.|MSH2017_2016_08_12:A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.|JABL99:A syndrome of infantile spasms, typical bowing of the head (salaam seizures), chorioretinopathy, retarded mental and motor development, agenesis of the corpus callosum, and costovertebral anomalies.
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