OBO ID: DOID:0080276
Term Name: Joubert syndrome 29 Search Ontology:
Synonyms:
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/26595381/
References:
Ontology: Human Disease   ( DOID:0080276 )
Relationships
is a type of:
OTHER Joubert syndrome 29 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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