Human Disease Ontology

Last uploaded: June 28, 2024
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

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Joubert syndrome 4

notation

DOID:0110999

prefLabel

Joubert syndrome 4

subClassOf

http://purl.obolibrary.org/obo/DOID_0050777

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