Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

Frasier syndrome

Synonyms

Frasier syndrome

Definitions

Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.

ID

http://purl.obolibrary.org/obo/MONDO_0007635

database_cross_reference

UMLS:C0950122

Orphanet:347

SCTID:445431000

OMIM:136680

ICD10:N04.1

MESH:D052159

DOID:0050438

ICD9:759.89

GARD:0002375

NCIT:C122805

disease has basis in dysfunction of

http://identifiers.org/hgnc/12796

exactMatch

http://identifiers.org/omim/136680

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

http://linkedlifedata.com/resource/umls/id/C0950122

http://www.orpha.net/ORDO/Orphanet_347

http://purl.obolibrary.org/obo/NCIT_C122805

http://identifiers.org/snomedct/445431000

http://identifiers.org/mesh/D052159

has exact synonym

Frasier syndrome

id

MONDO:0007635

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease

http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare

label

Frasier syndrome

notation

MONDO:0007635

prefLabel

Frasier syndrome

see also

https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome

textual definition

Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0020042

http://purl.obolibrary.org/obo/MONDO_0015945

http://purl.obolibrary.org/obo/MONDO_0015163

http://purl.obolibrary.org/obo/MONDO_0002254

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007635 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007635 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007635 DOVES SAME_URI
http://purl.obolibrary.org/obo/DOID_0050438 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050438 DOID LOOM
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