Human Disease Ontology

Last uploaded: September 28, 2024
Preferred Name

Alport syndrome
Synonyms

Hereditary Nephritis

Definitions

A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_10983

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

UMLS_CUI:C0027706

SNOMEDCT_US_2023_03_01:57333009

MESH:D009394

GARD:5785

ORDO:63

definition

A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.

disease has basis in

http://purl.obolibrary.org/obo/SO_0000704

has exact synonym

Hereditary Nephritis

has_obo_namespace

disease_ontology

id

DOID:10983

in_subset

http://purl.obolibrary.org/obo/doid#DO_MGI_slim

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Alport syndrome

notation

DOID:10983

prefLabel

Alport syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_0050177

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_10983 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_10983 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_10983 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_10983 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_10983 FNS-H SAME_URI
http://www.limics.org/hrdo/rdfns#pat_id_630 HRDO LOOM
http://purl.obolibrary.org/obo/HIO_0000019 HIO LOOM
http://nanbyodata.jp/ontology/NANDO_2200126 NANDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/770414008 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_63 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018965 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018965 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018965 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018965 KTAO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.81 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.81 ICD10CM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10983 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_10983 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10983 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10983 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_10983 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10983 FNS-H LOOM
http://purl.jp/bio/4/id/200906073231136375 IOBC LOOM
http://purl.bioontology.org/ontology/CSP/4007-0003 CRISP LOOM
rgo:29431 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0027706 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34842 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C34842 BERO LOOM
http://www.gamuts.net/entity#Alport_syndrome GAMUTS REST