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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/17701904, https://www.ncbi.nlm.nih.gov/pubmed/15378541
Xrefs

GARD:9177

MESH:C564369

MIM:607598

ORDO:137776

Subsets

DO_rare_slim

Synonyms

LCCS2 [EXACT]

multiple contracture syndrome, Israeli-Bedouin type [EXACT]

Parent Relationships

is_a lethal congenital contracture syndrome

Subclass Logical Relationships

disease has basis in some Abnormality of prenatal development or birth

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