Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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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http://purl.bioontology.org/ontology/MESH/C567582 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/300804 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0010431 Mondo Disease Ontology / Mondo疾病本体 LOOM