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Metadata
ID DOID:0061347
PURL http://purl.obolibrary.org/obo/DOID_0061347 Copy
Name Adams-Oliver syndrome 5
Definition An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.3.
https://pubmed.ncbi.nlm.nih.gov/25132448/
Xrefs

MIM:616028

Subsets

DO_rare_slim

Synonyms

AOS5 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Adams-Oliver syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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