Search Ontology:
Human Disease

autosomal recessive cutis laxa type IIB

Term ID
DOID:0070137
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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