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Metadata
ID DOID:0061098
Name Carpenter syndrome 1
Definition A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11.
https://pubmed.ncbi.nlm.nih.gov/20358613/
Xrefs

MIM:201000

Parent Relationships

is_a Carpenter syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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