Metadata | |
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ID | DOID:0111195 |
Name | erythrokeratodermia variabilis et progressiva 1 |
Definition | An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. https://www.ncbi.nlm.nih.gov/pubmed/12019212, https://www.ncbi.nlm.nih.gov/pubmed/9843209 |
Xrefs | |
Parent Relationships |
is_a autosomal recessive disease |