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
- Chromosome 13 Duplication
- Standard Disease Name
- chromosome 13 duplication
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C536305
- OMIM ID
- No data
- UMLS ID
- C2936830
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.