Metadata | |
---|---|
ID | DOID:0070144 |
Name | autosomal recessive cutis laxa type I |
Definition | A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. https://www.ncbi.nlm.nih.gov/pubmed/19401719 |
Xrefs |
SNOMEDCT_US_2023_03_01:254222002 |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive cutis laxa type 1 [EXACT] |
Parent Relationships |
is_a cutis laxa |