Metadata | |
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ID | DOID:0080661 |
Name | nonsyndromic aplasia cutis congenita |
Definition | A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita, https://www.ncbi.nlm.nih.gov/pubmed/9415483 |
Xrefs | |
Parent Relationships |
is_a skin disease |