OBO ID: DOID:0070144
Term Name: autosomal recessive cutis laxa type I Search Ontology:
Synonyms:
  • autosomal recessive cutis laxa type 1
Definition: A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems. https://www.ncbi.nlm.nih.gov/pubmed/19401719
References:
  • GARD:8480
  • MESH:C562628
  • ORDO:90439
  • SNOMEDCT_US_2022_03_01:254222002
  • UMLS_CUI:C0268351
  • UMLS_CUI:C0432336
Ontology: Human Disease   (DOID:0070144)
OTHER autosomal recessive cutis laxa type I PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None