Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Bardet-Biedl syndrome 7
Synonyms	BBS7
Definitions	A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.
ID	http://purl.obolibrary.org/obo/DOID_0110129
database_cross_reference	MESH:C565916 ICD10CM:Q87.89 OMIM:615984 GARD:10206
definition	A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.
has exact synonym	BBS7
has_obo_namespace	disease_ontology
id	DOID:0110129
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Bardet-Biedl syndrome 7
notation	DOID:0110129
prefLabel	Bardet-Biedl syndrome 7
subClassOf	http://purl.obolibrary.org/obo/DOID_1935

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C565916	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/615984	Online Mendelian Inheritance in Man	LOOM