Metadata | |
---|---|
ID | DOID:0080723 |
Name | Kenny-Caffey syndrome type 2 |
Definition | A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. https://pubmed.ncbi.nlm.nih.gov/23996431/ |
Xrefs | |
SKOS |
exactMatch MESH:C537020 |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |