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DO Term : autosomal recessive congenital ichthyosis 1 [DOID:0060656] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:281122,
  • ORDO:313,
  • ORDO:100976,
  • OMIM:242300,
  • ARCI1,
  • GARD:3170,
  • ICD10CM:Q80.2,
  • bathing suit ichthyosis,
  • 242300
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents