Joubert Syndrome

Disease ID: disease_node_14692

Connections displayed (default: 10).

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Dbxref	GARD:6802, ICD10CM:Q04.3, MIM:PS213300, ORDO:475
Subclassof	DOID_936, DOID_0060340
Data Source	DOID
Synonyms	JBTS
Disease Has Location	UBERON_0000955
Doid Label	Joubert syndrome
Doid Description	A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Xref MGI.
Disease Node Id	disease_node_14692
Doid Id	DOID_0050777
Label	Joubert Syndrome

Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 15(ID:disease_node_14702) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 28(ID:disease_node_14706) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 17(ID:disease_node_14700) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 14(ID:disease_node_14703) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Ciliopathy(ID:disease_node_14682) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 31(ID:disease_node_14709) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 18(ID:disease_node_14699) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 1(ID:disease_node_14705) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 20(ID:disease_node_14698) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 27(ID:disease_node_14712) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 13(ID:disease_node_14704) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 25(ID:disease_node_14693) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 21(ID:disease_node_14697) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 24(ID:disease_node_14694) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 26(ID:disease_node_14713) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 29(ID:disease_node_14710) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 22(ID:disease_node_14696) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 23(ID:disease_node_14695) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 33(ID:disease_node_14707) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 30(ID:disease_node_14711) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Brain Diseases(ID:disease_node_1682) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 32(ID:disease_node_14708) (Disease)
Incoming r'ship SUBCLASS_OF to/from Joubert Syndrome 16(ID:disease_node_14701) (Disease)

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Joubert Syndrome

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Disease Properties

Associated Connections 23

Disease Connections 23