Visualize Submit Comment
Metadata
ID DOID:0110999
Name Joubert syndrome 4
Definition A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.
https://www.ncbi.nlm.nih.gov/pubmed/15138899
Xrefs

GARD:10169

MESH:C536296

OMIM:609583

Synonyms

JBTS4 [EXACT]

Parent Relationships

is_a Joubert syndrome

Add an item to the term tracker