Search Ontology:
Human Disease

ectodermal dysplasia 8

Term ID
DOID:0111661
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_2023_03_01:239020008
  • UMLS_CUI:C0406715
Ontology
Human Disease   ( DOID:0111661 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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