Preferred Name |
Joubert syndrome 4 |
|
Synonyms |
JBTS4 |
|
Definitions |
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0110999 |
|
database_cross_reference |
MESH:C536296 GARD:10169 MIM:609583 |
|
definition |
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. |
|
has exact synonym |
JBTS4 |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0110999 |
|
in_subset | ||
label |
Joubert syndrome 4 |
|
notation |
DOID:0110999 |
|
prefLabel |
Joubert syndrome 4 |
|
subClassOf |
Create mapping