OBO ID: DOID:0111661
Term Name: ectodermal dysplasia 8 Search Ontology:
Synonyms:
  • ECTD8
  • ectodermal dysplasia 8, hair/tooth/nail type
  • Fried's tooth and nail syndrome
Definition: An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. (2)
References:
  • OMIM:602401
  • ORDO:99672
  • SNOMEDCT_US_2022_03_01:239020008
  • UMLS_CUI:C0406715
Ontology: Human Disease   (DOID:0111661)
OTHER ectodermal dysplasia 8 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None