blepharocheilodontic syndrome 1

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Information
Disease name
blepharocheilodontic syndrome 1
Disease ID
DOID:0080345
Description
"A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28301459]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0080344
Cross Reference ID (Disease Ontology)
MIM:119580