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Metadata
ID DOID:0111662
Name ectodermal dysplasia 14
Definition An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3.
https://www.ncbi.nlm.nih.gov/pubmed/27736875
Xrefs

OMIM:618180

Synonyms

ECTN14 [EXACT]

ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a autosomal recessive disease

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