Medical Subject Headings

Last uploaded: November 5, 2019
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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/Q000401

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D058497
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D000745

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D020294

http://purl.bioontology.org/ontology/MESH/D058631

http://purl.bioontology.org/ontology/MESH/D025861

http://purl.bioontology.org/ontology/MESH/D010004

http://purl.bioontology.org/ontology/MESH/D006061

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D053306

http://purl.bioontology.org/ontology/MESH/D050174

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D010381

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D031845

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D050010

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D020271

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D065768

http://purl.bioontology.org/ontology/MESH/D000699

http://purl.bioontology.org/ontology/MESH/D009136

http://purl.bioontology.org/ontology/MESH/D000077428

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D000071070

http://purl.bioontology.org/ontology/MESH/D002636

http://purl.bioontology.org/ontology/MESH/D056660

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D054179

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D030321

http://purl.bioontology.org/ontology/MESH/D046589

http://purl.bioontology.org/ontology/MESH/D053840

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D010013

http://purl.bioontology.org/ontology/MESH/D056735

http://purl.bioontology.org/ontology/MESH/D008661

http://purl.bioontology.org/ontology/MESH/D003966

http://purl.bioontology.org/ontology/MESH/D029502

http://purl.bioontology.org/ontology/MESH/D007619

http://purl.bioontology.org/ontology/MESH/D049970

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D006453

http://purl.bioontology.org/ontology/MESH/D017436

http://purl.bioontology.org/ontology/MESH/D017624

http://purl.bioontology.org/ontology/MESH/D024741

http://purl.bioontology.org/ontology/MESH/D056684

http://purl.bioontology.org/ontology/MESH/D003550

http://purl.bioontology.org/ontology/MESH/D019896

http://purl.bioontology.org/ontology/MESH/D013734

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D012873

http://purl.bioontology.org/ontology/MESH/D000312

http://purl.bioontology.org/ontology/MESH/D008382
Machine permutation

2006; see DENYS-DRASH SYNDROME 2002-2005
MDA

20050630
MMR

20120703
MN

C16.131.939.316.096.624

C13.351.968.419.780.750.500.500

C12.777.419.780.750.500.500

C16.320.306

C12.706.316.096.624

C19.391.119.096.624

C13.351.875.253.096.624
notation

D052159
prefLabel

Frasier Syndrome
TERMUI

T452394
TH

NLM (2002)

OMIM (2013)
tui

T047
subClassOf

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

http://purl.bioontology.org/ontology/MESH/D030342

http://purl.bioontology.org/ontology/MESH/D007676
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050438 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/136680 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/136680 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/607102 Online Mendelian Inheritance in Man CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122805 National Cancer Institute Thesaurus LOOM