Knobloch Syndrome 1

Preferred Label : Knobloch Syndrome 1;

NCIt synonyms : KNO1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the COL18A1 gene, encoding collagen alpha-1(XVIII) chain. It is characterized by eye abnormalities, including high myopia and vitreoretinal degeneration.;

Details

Origin ID

C201594;

UMLS CUI

C4551775;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Knobloch syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- COL18A1 Gene [NCIt concept]

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