Human Disease Ontology

Last uploaded: June 28, 2024
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Preferred Name

Frasier syndrome
Synonyms
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_0050438
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0950122

MESH:D052159

SNOMEDCT_US_2023_03_01:445431000

NCI:C122805

GARD:2375

MIM:136680
definition

A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
has material basis in

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

disease_ontology
id

DOID:0050438
in_subset

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

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

Frasier syndrome
notation

DOID:0050438
prefLabel

Frasier syndrome
subClassOf

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

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050438 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050438 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050438 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050438 FNS-H SAME_URI
rgo:25405 GAMUTS LOOM
rgo:25405 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0007635 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007635 MONDO LOOM
http://identifiers.org/omim/136680 REXO LOOM
http://identifiers.org/omim/136680 GEXO LOOM
http://identifiers.org/omim/136680 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.780.750.500.500 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#53529 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080313 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D052159 MESH LOOM
http://www.gamuts.net/entity#Frasier_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/136680 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122805 NCIT LOOM
http://purl.obolibrary.org/obo/DOID_0050438 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050438 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050438 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050438 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D052159 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D052159 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.875.253.096.624 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050438 NATPRO LOOM
http://purl.obolibrary.org/obo/OMIT_0025084 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_347 ORDO LOOM
http://purl.jp/bio/4/id/200906084391745558 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C122805 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037257 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.306 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/445431000 SNOMEDCT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3616 HRDO LOOM
http://purl.obolibrary.org/obo/GSSO_006966 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.391.119.096.624 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.780.750.500.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_136680 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.939.316.096.624 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0950122 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.706.316.096.624 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007635 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0007635 KTAO LOOM
http://www.gamuts.net/entity#Frasier_syndrome GAMUTS REST
http://www.gamuts.net/entity#Frasier_syndrome GAMUTS REST
http://www.gamuts.net/entity#Frasier_syndrome GAMUTS REST