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
- Corneal Diseases
- Standard Disease Name
- corneal diseases
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C537326
- OMIM ID
- 156620
- UMLS ID
- C0796062
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:This syndrome has manifestations of microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.|JABL99:A syndrome of microcephaly, dysmorphic facies, deafness, and mental retardation.
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Related Targets
target disease8 Targets