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Disease Ontology Browser
autosomal recessive congenital ichthyosis 1 (DOID:0060656)
Alliance: disease page
Synonyms: ARCI1; bathing suit ichthyosis
Alt IDs: OMIM:242300, ICD10CM:Q80.2, ORDO:100976, ORDO:281122, ORDO:313
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory