FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Joubert syndrome 4

Synonyms
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

definition

A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.

imported from

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

label

Joubert syndrome 4

prefixIRI

DOID:0110999

prefLabel

Joubert syndrome 4

subClassOf

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

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