Preferred Name

Bardet-Biedl syndrome 7

ID

http://www.orpha.net/ORDO/Orphanet_118990

alternative_term

BBS2L1

FLJ10715

hasDbXref

SwissProt:Q8IWZ6

OMIM:607590

Genatlas:BBS7

Ensembl:ENSG00000138686

HGNC:18758

Reactome:Q8IWZ6

label

Bardet-Biedl syndrome 7

prefixIRI

ORDO:Orphanet_118990

prefLabel

Bardet-Biedl syndrome 7

symbol

BBS7

subClassOf

http://www.orpha.net/ORDO/Orphanet_410298

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http://purl.obolibrary.org/obo/DOID_0110129 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0014435 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C565916 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/615984 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://www.ebi.ac.uk/efo/EFO_0009026 Experimental Factor Ontology / 实验性因素本体 LOOM