Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Joubert syndrome 10
Synonyms	JBTS10
Definitions	A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.
ID	http://purl.obolibrary.org/obo/DOID_0110981
database_cross_reference	MESH:C567582 OMIM:300804
definition	A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.
has exact synonym	JBTS10
has material basis in	http://purl.obolibrary.org/obo/GENO_0000149
has_obo_namespace	disease_ontology
id	DOID:0110981
label	Joubert syndrome 10
notation	DOID:0110981
prefLabel	Joubert syndrome 10
subClassOf	http://purl.obolibrary.org/obo/DOID_0080012 http://purl.obolibrary.org/obo/DOID_0050777

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567582	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/300804	Online Mendelian Inheritance in Man	LOOM