| Metadata | |
|---|---|
| ID | DOID:0070135 |
| Name | autosomal recessive cutis laxa type IA |
| 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 |
| Xrefs | |
| Synonyms |
ARCL1A [EXACT] |
| Parent Relationships |