Term Name: autosomal recessive cutis laxa type IA
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.
Ontology: Human Disease [DOID:0070135]   ( DOID:0070135 )

Relationships
is a type of: autosomal recessive cutis laxa type I