| Metadata | |
|---|---|
| ID | DOID:0070139 |
| Name | autosomal recessive cutis laxa type IC |
| Definition | A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19836010 |
| Xrefs |
SNOMEDCT_US_2023_03_01:784349004 |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCL1C [EXACT] autosomal recessive cutis laxa type 1C [EXACT] |
| Parent Relationships |