01
ADAMTS18
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 4
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Knobloch Syndrome 1
- Standard Disease Name
- knobloch syndrome 1
- MeSH Tree
- No data
- ICD-10
- Q15.8
Identifiers
- DO ID
- No data
- MeSH ID
- C537209
- OMIM ID
- 267750
- UMLS ID
- C1849409
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:Mental retardation, hypotonicity, incontinence, muscle atrophy, and inability to walk or speak originally reported in 7 males in 2 generations.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.