Mondo Disease Ontology

Last uploaded: May 9, 2024
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Preferred Name

Frasier syndrome
Synonyms

Frasier syndrome

Frasier syndrome, autosomal dominant, somatic mutation
Definitions

Frasier syndrome is characterized 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

MESH:D052159

DOID:0050438

ICD9:759.89

GARD:2375

NCIT:C122805
definition

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

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

http://purl.obolibrary.org/obo/Orphanet_347

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

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

http://identifiers.org/snomedct/445431000

https://omim.org/entry/136680

http://identifiers.org/mesh/D052159
has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136
has material basis in germline mutation in

http://identifiers.org/hgnc/12796
has_exact_synonym

Frasier syndrome

Frasier syndrome, autosomal dominant, somatic mutation
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/6753
id

MONDO:0007635
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare
label

Frasier syndrome
notation

MONDO:0007635
prefLabel

Frasier syndrome
seeAlso

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

http://purl.obolibrary.org/obo/MONDO_0020040

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

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

http://purl.obolibrary.org/obo/MONDO_0020040

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

http://purl.obolibrary.org/obo/MONDO_0002254
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Delete Mapping To Ontology Source
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/MONDO_0007635 KTAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050438 DOID 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://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 DOID 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 DDSS 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
rgo:25405 GAMUTS 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007635 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0007635 KTAO LOOM