| Metadata | |
|---|---|
| ID | DOID:0070138 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070138 Copy |
| Name | autosomal recessive cutis laxa type IIIB |
| Definition | An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/19648921 |
| Xrefs | |
| Synonyms |
ARCL3B [EXACT] De Barsy syndrome B [EXACT] |
| Parent Relationships |