OBO ID: DOID:0110997
Term Name: Joubert syndrome 28 Search Ontology:
Synonyms:
  • JBTS28
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/24886560
References:
Ontology: Human Disease   ( DOID:0110997 )
Relationships
is a type of:
OTHER Joubert syndrome 28 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MKS1 Joubert syndrome 28 617121
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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