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ectodermal dysplasia 14
Summary
- Synonym
-
- ECTN14
- ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
- 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.
- Super Class
- autosomal recessive disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0111662
- Mondo Disease Ontology
- OMIM
