| Metadata | |
|---|---|
| ID | DOID:0070137 |
| Name | autosomal recessive cutis laxa type IIB |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCL2, progeroid type [EXACT] ARCL2B [EXACT] |
| Parent Relationships |
is_a cutis laxa |