Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |