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About: autosomal recessive congenital ichthyosis 9     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • autosomal recessive congenital ichthyosis 9
described by
id
  • DOID:0060718
database_cross_reference
  • ICD10CM:Q80.2
  • OMIM:615023
has_exact_synonym
  • ARCI9 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.
is topic of
is annotatedSource of
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