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Metadata
ID DOID:0080257
Name autosomal recessive congenital ichthyosis 13
Definition An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13.
https://pubmed.ncbi.nlm.nih.gov/28369735/
Xrefs

MIM:617574

Parent Relationships

is_a autosomal recessive congenital ichthyosis

Subclass Logical Relationships

disease has basis in some Abnormality of prenatal development or birth

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