Search Ontology:
Human Disease

lethal congenital contracture syndrome 3

Term ID
DOID:0060653
Synonyms
  • Israeli Bedouin type B multiple contracture syndrome
Definition
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/17701898
References
Ontology
Human Disease   ( DOID:0060653 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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