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Metadata
ID DOID:0061274
PURL http://purl.obolibrary.org/obo/DOID_0061274 Copy
Name Weill-Marchesani syndrome 2
Definition A Weill-Marchesani syndrome that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
https://pubmed.ncbi.nlm.nih.gov/11941487/
Xrefs

MIM:608328

Parent Relationships

is_a autosomal dominant disease

is_a Weill-Marchesani syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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