autosomal dominant cutis laxa 2

Term ID

DOID:0070136

Synonyms

• ADCL2

Definition

An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/12618961

References

• ICD10CM:Q82.8
• OMIM:614434

Ontology

Human Disease   ( DOID:0070136 )