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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

GARD:83

MIM:127000

ORDO:93325

SKOS

exactMatch MESH:C537020

Subsets

DO_rare_slim

Parent Relationships

is_a autosomal dominant disease

is_a Kenny-Caffey syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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