Metadata | |
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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/17701904, https://www.ncbi.nlm.nih.gov/pubmed/15378541 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
LCCS2 [EXACT] multiple contracture syndrome, Israeli-Bedouin type [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |