Leber congenital amaurosis 13

Term ID

DOID:0110330

Synonyms

• LCA13

Definition

A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. https://www.ncbi.nlm.nih.gov/pubmed/15258582

References

• ICD10CM:H35.5
• MESH:C567197
• OMIM:612712

Ontology

Human Disease   ( DOID:0110330 )