autosomal recessive cutis laxa type IC

Term ID

DOID:0070139

Synonyms

• ARCL1C
• autosomal recessive cutis laxa type 1C

Definition

A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19836010

References

• MESH:C567716
• OMIM:613177
• ORDO:221145
• SNOMEDCT_US_2023_03_01:784349004
• UMLS_CUI:C2750804

Ontology

Human Disease   ( DOID:0070139 )