Metadata | |
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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 |