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Metadata
DOID 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
Synonyms

LCCS2 [EXACT]

multiple contracture syndrome, Israeli-Bedouin type [EXACT]

Xrefs

GARD:9177

MESH:C564369

OMIM:607598

ORDO:137776

Relationships

is_a lethal congenital contracture syndrome

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