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Metadata
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

MIM:133200

Parent Relationships

is_a autosomal recessive disease

is_a autosomal dominant disease

is_a erythrokeratodermia variabilis

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