FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ectodermal dysplasia 8 ID (Ontology) DOID:0111661 (Human Disease)
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.
Also Known As "ECTD8" ; "ectodermal dysplasia 8, hair/tooth/nail type" ; "Fried's tooth and nail syndrome"
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__ectodermal dysplasia_________|
                                 ectodermal dysplasia 8
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Is a autosomal recessive disease
ectodermal dysplasia
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Synonyms
  • "ECTD8" EXACT OMO:0003012
    "ectodermal dysplasia 8, hair/tooth/nail type" EXACT
    "Fried's tooth and nail syndrome" EXACT
Secondary IDs
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MIM:602401
ORDO:99672
SNOMEDCT_US_2023_03_01:239020008
UMLS_CUI:C0406715