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Metadata
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	GARD:3170 ICD10CM:Q80.2 OMIM:242300 ORDO:100976 ORDO:281122 ORDO:313
Subsets	DO_rare_slim
Synonyms	ARCI1 [EXACT] bathing suit ichthyosis [NARROW]
Parent Relationships	is_a autosomal recessive congenital ichthyosis