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About: Naegeli-Franceschetti-Jadassohn syndrome     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
  • Naegeli-Franceschetti-Jadassohn syndrome
described by
id
  • DOID:0111528
database_cross_reference
  • GARD:3912
  • MESH:C538331
  • OMIM:161000
  • ORDO:69087
  • SNOMEDCT_US_2021_09_01:239084001
  • UMLS_CUI:C0343111
has_exact_synonym
  • NFJ syndrome (en)
  • Naegeli syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2.
is topic of
is annotatedSource of
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