Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_118990 Orphanet Rare Disease Ontology / Orphanet罕见病本体 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