Term Name: ectodermal dysplasia 14
Synonyms: ECTN14, ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, hypohidrotic/hair/tooth/nail type
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.
Ontology: Human Disease [DOID:0111662]   ( DOID:0111662 )

Relationships
is a type of: autosomal recessive disease ectodermal dysplasia