ectodermal dysplasia 11B

Term ID

DOID:0111654

Synonyms

• ECTD11B
• ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Definition

A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. https://www.ncbi.nlm.nih.gov/pubmed/11780064

References

• OMIM:614941

Ontology

Human Disease   ( DOID:0111654 )