autosomal recessive cutis laxa type IA

Term ID

DOID:0070135

Synonyms

• ARCL1A

Definition

An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/12189163

References

• ICD10CM:Q82.8
• OMIM:219100

Ontology

Human Disease   ( DOID:0070135 )