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About: autosomal recessive congenital ichthyosis 11     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 11
described by
id
  • DOID:0060720
database_cross_reference
  • ICD10CM:Q80.8
  • OMIM:602400
has_exact_synonym
  • IFAH syndrome (en)
  • IHS (en)
  • autosomal recessive ichthyosis with hypotrichosis (en)
  • hypotrichosis-congenital ichthyosis syndrome (en)
  • ichthyosis-hypotrichosis syndrome (en)
  • ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis (en)
  • ichthyosis-follicular atrophoderma-hypotrichosis syndrome (en)
  • ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
is topic of
is annotatedSource of
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