Search Ontology:
Human Disease
Leber congenital amaurosis 11
- Term ID
- DOID:0110216
- Synonyms
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- LCA11
- Definition
- A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. https://www.ncbi.nlm.nih.gov/pubmed/16384941
- References
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- ICD10CM:H35.5
- MESH:C564140
- MIM:613837
- Ontology
- Human Disease ( DOID:0110216 )
- is a type of
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