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lethal congenital contracture syndrome 2

Go to external page http://purl.obolibrary.org/obo/DOID_0060560

A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. [ url:https://www.ncbi.nlm.nih.gov/pubmed/15378541 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/17701904 ]

Synonyms: multiple contracture syndrome, Israeli-Bedouin type LCCS2

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:9177
  • MESH:C564369
  • MIM:607598
  • ORDO:137776
Subsets

DO_rare_slim

acronym
LCCS2

has obo namespace

disease_ontology

id

DOID:0060560