Search Ontology:
Human Disease

dermatopathia pigmentosa reticularis

Term ID
DOID:0111342
Synonyms
  • DPR
Definition
An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (2)
References
  • GARD:8550
  • MESH:C535374
  • MIM:125595
  • ORDO:86920
  • SNOMEDCT_US_2023_03_01:239088003
  • UMLS_CUI:C0406778
Ontology
Human Disease   ( DOID:0111342 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations