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

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/08/2017
MGI 6.10
The Jackson Laboratory