Search Ontology:
Human Disease

autosomal recessive cutis laxa type I

Term ID
DOID:0070144
Synonyms
  • autosomal recessive cutis laxa type 1
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
References
  • GARD:8480
  • MESH:C562628
  • ORDO:90439
  • SNOMEDCT_US_2023_03_01:254222002
  • UMLS_CUI:C0268351
  • UMLS_CUI:C0432336
Ontology
Human Disease   ( DOID:0070144 )
Relationships
is a type of
has subtype
Other Pages
Genes Involved
Zebrafish Models