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Human Disease

autosomal recessive congenital ichthyosis 1

Term ID
DOID:0060656
Synonyms
  • ARCI1
  • bathing suit ichthyosis
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
References
  • GARD:3170
  • ICD10CM:Q80.2
  • MIM:242300
  • ORDO:100976
  • ORDO:281122
  • ORDO:313
Ontology
Human Disease   ( DOID:0060656 )
Relationships
is a type of
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Genes Involved
Zebrafish Models