OBO ID: DOID:0070141
Term Name: autosomal recessive cutis laxa type II classic type Search Ontology:
Synonyms:
  • ARCL2, classic type
  • ARCL2, Debre type
Definition: A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. https://www.ncbi.nlm.nih.gov/pubmed/28065471
References:
  • ICD10CM:Q82.8
  • ORDO:357074
Ontology: Human Disease   (DOID:0070141)
OTHER autosomal recessive cutis laxa type II classic type PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None