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Metadata
ID DOID:0061346
PURL http://purl.obolibrary.org/obo/DOID_0061346 Copy
Name Adams-Oliver syndrome 4
Definition An Adams-Oliver syndrome that is characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes and that has_material_basis_in homozygous mutation in the EOGT gene on chromosome 3p14.1.
https://pubmed.ncbi.nlm.nih.gov/23522784/
Xrefs

MIM:615297

Subsets

DO_rare_slim

Synonyms

AOS4 [EXACT]

Parent Relationships

is_a Adams-Oliver syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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