Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

nephrotic syndrome type 17

Definitions

A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.

ID

http://purl.obolibrary.org/obo/DOID_0080392

database_cross_reference

OMIM:618176

definition

A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0080392

label

nephrotic syndrome type 17

notation

DOID:0080392

prefLabel

nephrotic syndrome type 17

subClassOf

http://purl.obolibrary.org/obo/DOID_2590

http://purl.obolibrary.org/obo/DOID_0050737

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http://purl.obolibrary.org/obo/MONDO_0032580 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/618176 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM