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DO Term : ectodermal dysplasia 8 [DOID:0111661] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
SNOMEDCT_US_2023_03_01:239020008,
602401,
Fried's tooth and nail syndrome,
ectodermal dysplasia 8, hair/tooth/nail type,
UMLS_CUI:C0406715,
OMIM:602401,
ORDO:99672,
ECTD8

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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