Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Frasier Syndrome
Synonyms

Syndrome, Frasier
Definitions

A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
ID

http://purl.bioontology.org/ontology/MESH/D052159
altLabel

Syndrome, Frasier
AN

do not confuse with FRASER SYNDROME
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0950122
DC

1
definition

A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
DX

20060101
FX

D058497
HN

2006; use DENYS-DRASH SYNDROME 2002-2005
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D058497
Machine permutation

2006; see DENYS-DRASH SYNDROME 2002-2005
MDA

20050630
MMR

20210607
MN

C12.050.351.875.253.096.624

C12.200.777.419.780.750.500.500

C19.391.119.096.624

C12.050.351.968.419.780.750.500.500

C12.950.419.780.750.500.500

C12.200.706.316.096.624

C16.131.939.316.096.624

C12.800.316.096.624

C23.550.291.500.906.500.500

C16.320.306
notation

D052159
prefLabel

Frasier Syndrome
TERMUI

T452394
TH

OMIM (2013)

NLM (2002)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D007676

http://purl.bioontology.org/ontology/MESH/D058490

http://purl.bioontology.org/ontology/MESH/D030342
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10080313 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000171671 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/445431000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10080313 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/607102 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/136680 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D052159 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/445431000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10080313 MDRFRE CUI
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://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