Metadata | |
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ID | DOID:0060656 |
Name | autosomal recessive congenital ichthyosis 1 |
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 TGM1 gene on chromosome 14q11.2. https://www.ncbi.nlm.nih.gov/pubmed/7824952 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ARCI1 [EXACT] bathing suit ichthyosis [NARROW] |
Parent Relationships |