OBO ID: DOID:0070137
Term Name: autosomal recessive cutis laxa type IIB Search Ontology:
Synonyms:
  • ARCL2, progeroid type
  • ARCL2B
Definition: A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. https://www.ncbi.nlm.nih.gov/pubmed/19576563
References:
Ontology: Human Disease   (DOID:0070137)
OTHER autosomal recessive cutis laxa type IIB PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PYCR1 Cutis laxa, autosomal recessive, type IIB 612940
ZEBRAFISH MODELS
Fish Conditions Citations
pycr1acy51/cy51 (AB) standard conditions Liang et al., 2019
PHENOTYPE No data available

CITATIONS (1)