Metadata | |
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ID | DOID:0061152 |
Name | monilethrix 2 |
Definition | A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that has_material_basis_in heterozygous mutation in the KRT81 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/9665406/ |
Xrefs | |
Parent Relationships |
is_a monilethrix |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |