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Human Disease

autosomal recessive congenital ichthyosis 14

Term ID
DOID:0080258
Synonyms
Definition
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/28575648/
References
Ontology
Human Disease   ( DOID:0080258 )
Relationships
is a type of
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Genes Involved
Zebrafish Models