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Metadata
ID DOID:0111650
Name ectodermal dysplasia 13
Definition An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1.
https://www.ncbi.nlm.nih.gov/pubmed/27049303
Xrefs

OMIM:617392

Synonyms

ECTD13 [EXACT]

ectodermal dysplasia 13, hair/tooth type [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a autosomal recessive disease

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