Metadata | |
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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 | |
Parent Relationships |
is_a Carpenter syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |