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Metadata
ID DOID:0060656
Name autosomal recessive congenital ichthyosis 1
Definition An autosomal recessive congenital ichthyosis 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

ICD10CM:Q80.2

OMIM:242300

ORDO:100976

ORDO:281122

ORDO:313

Synonyms

ARCI1 [EXACT]

bathing suit ichthyosis [NARROW]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

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