FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Joubert syndrome 1

Synonyms
Definitions

A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.

ID

http://purl.obolibrary.org/obo/DOID_0110980

definition

A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Joubert syndrome 1

prefixIRI

DOID:0110980

prefLabel

Joubert syndrome 1

subClassOf

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

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