Metadata | |
---|---|
ID | DOID:0111656 |
Name | ectodermal dysplasia 9 |
Definition | A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. https://www.ncbi.nlm.nih.gov/pubmed/23063621 |
Xrefs | |
Synonyms |
ECTD9 [EXACT] ectodermal dysplasia 9, hair/nail type [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |