Metadata | |
---|---|
ID | DOID:0060560 |
Name | lethal congenital contracture syndrome 2 |
Definition | A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/15378541, https://www.ncbi.nlm.nih.gov/pubmed/17701904 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
LCCS2 [EXACT] multiple contracture syndrome, Israeli-Bedouin type [EXACT] |
Parent Relationships |