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Human Disease

autosomal recessive congenital ichthyosis 13

Term ID
DOID:0080257
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0080257 )
Relationships
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Genes Involved
Zebrafish Models