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About: ichthyosis follicularis-alopecia-photophobia syndrome 1     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • ichthyosis follicularis-alopecia-photophobia syndrome 1
described by
id
  • DOID:0111821
database_cross_reference
  • GARD:2952
  • MESH:C536085
  • OMIM:308205
  • ORDO:2273
  • UMLS_CUI:C1839988
has_exact_synonym
  • IFAP syndrome 1
  • IFAP syndrome 1 with or without BRESHECK syndrome
  • ichthyosis follicularis-atrichia-photophobia syndrome 1
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.
is topic of
is annotatedSource of
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