Visualize Submit Comment

Metadata
ID	DOID:0070133
Name	autosomal recessive cutis laxa type IB
Definition	An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/16685658, https://www.ncbi.nlm.nih.gov/pubmed/19664000
Xrefs	ICD10CM:Q82.8 MIM:614437
Synonyms	ARCL1B [EXACT]
Parent Relationships	is_a autosomal recessive cutis laxa type I