Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

focal segmental glomerulosclerosis 5

Synonyms

FSGS5

Definitions

A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33.

ID

http://purl.obolibrary.org/obo/DOID_0111130

database_cross_reference

MESH:C567687

OMIM:613237

ICD10CM:N04.1

definition

A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33.

has exact synonym

FSGS5

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0111130

label

focal segmental glomerulosclerosis 5

notation

DOID:0111130

prefLabel

focal segmental glomerulosclerosis 5

subClassOf

http://purl.obolibrary.org/obo/DOID_1312

http://purl.obolibrary.org/obo/DOID_0050736

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http://purl.bioontology.org/ontology/MESH/C567687 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0013191 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/613237 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM