Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Zellweger Syndrome
Synonyms

Zellweger Syndrome Spectrum
Definitions

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
ID

http://purl.bioontology.org/ontology/MESH/D015211
altLabel

Zellweger Syndrome Spectrum

Zellweger-Like Syndrome

Zellweger Spectrum

Cerebro-Hepato-Renal Syndrome

Zellweger Like Syndrome

Spectrum, Zellweger

PBD, ZSS

Cerebrohepatorenal Syndrome

Zellweger Disease

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Zellweger's Syndrome

Cerebro Hepato Renal 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

C3658299

C0751594

C0043459
DC

1
definition

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
DX

19890101
HN

1989
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 SIB

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D009400

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D052177

http://purl.bioontology.org/ontology/MESH/D056732

http://purl.bioontology.org/ontology/MESH/D003928

http://purl.bioontology.org/ontology/MESH/D007706

http://purl.bioontology.org/ontology/MESH/D020176

http://purl.bioontology.org/ontology/MESH/D012078

http://purl.bioontology.org/ontology/MESH/D000073839

http://purl.bioontology.org/ontology/MESH/D016878

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

http://purl.bioontology.org/ontology/MESH/D020279

http://purl.bioontology.org/ontology/MESH/D015324

http://purl.bioontology.org/ontology/MESH/D058165

http://purl.bioontology.org/ontology/MESH/D056733

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

http://purl.bioontology.org/ontology/MESH/D015499

http://purl.bioontology.org/ontology/MESH/D059446

http://purl.bioontology.org/ontology/MESH/D005234

http://purl.bioontology.org/ontology/MESH/D044542

http://purl.bioontology.org/ontology/MESH/D012080

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

http://purl.bioontology.org/ontology/MESH/D006977

http://purl.bioontology.org/ontology/MESH/D020518

http://purl.bioontology.org/ontology/MESH/D004476

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D004314

http://purl.bioontology.org/ontology/MESH/D006504

http://purl.bioontology.org/ontology/MESH/D058495

http://purl.bioontology.org/ontology/MESH/D019082

http://purl.bioontology.org/ontology/MESH/D020158

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

http://purl.bioontology.org/ontology/MESH/D017204

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

http://purl.bioontology.org/ontology/MESH/D000326

http://purl.bioontology.org/ontology/MESH/D016715

http://purl.bioontology.org/ontology/MESH/D014398

http://purl.bioontology.org/ontology/MESH/D006529

http://purl.bioontology.org/ontology/MESH/D056806

http://purl.bioontology.org/ontology/MESH/D010661

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

http://purl.bioontology.org/ontology/MESH/D054078

http://purl.bioontology.org/ontology/MESH/D019280

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

http://purl.bioontology.org/ontology/MESH/D007849

http://purl.bioontology.org/ontology/MESH/D017243

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D009393

http://purl.bioontology.org/ontology/MESH/D056770

http://purl.bioontology.org/ontology/MESH/D014386

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

http://purl.bioontology.org/ontology/MESH/D051437

http://purl.bioontology.org/ontology/MESH/D052919

http://purl.bioontology.org/ontology/MESH/D054975

http://purl.bioontology.org/ontology/MESH/D008103

http://purl.bioontology.org/ontology/MESH/D020065

http://purl.bioontology.org/ontology/MESH/D007681

http://purl.bioontology.org/ontology/MESH/D016263

http://purl.bioontology.org/ontology/MESH/D020331

http://purl.bioontology.org/ontology/MESH/D006527

http://purl.bioontology.org/ontology/MESH/D008113

http://purl.bioontology.org/ontology/MESH/D006502

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D017241

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

http://purl.bioontology.org/ontology/MESH/D058502

http://purl.bioontology.org/ontology/MESH/D006869

http://purl.bioontology.org/ontology/MESH/D008109

http://purl.bioontology.org/ontology/MESH/D058496

http://purl.bioontology.org/ontology/MESH/D006712

http://purl.bioontology.org/ontology/MESH/D020642

http://purl.bioontology.org/ontology/MESH/D007690

http://purl.bioontology.org/ontology/MESH/D007888

http://purl.bioontology.org/ontology/MESH/D001002

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D017094

http://purl.bioontology.org/ontology/MESH/D008100

http://purl.bioontology.org/ontology/MESH/D003919

http://purl.bioontology.org/ontology/MESH/D009401

http://purl.bioontology.org/ontology/MESH/D000073842

http://purl.bioontology.org/ontology/MESH/D001506

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D018902

http://purl.bioontology.org/ontology/MESH/D028243

http://purl.bioontology.org/ontology/MESH/D005736

http://purl.bioontology.org/ontology/MESH/D015325

http://purl.bioontology.org/ontology/MESH/D007926

http://purl.bioontology.org/ontology/MESH/D012035

http://purl.bioontology.org/ontology/MESH/D020167

http://purl.bioontology.org/ontology/MESH/D053040

http://purl.bioontology.org/ontology/MESH/D006250

http://purl.bioontology.org/ontology/MESH/D056486

http://purl.bioontology.org/ontology/MESH/D016142

http://purl.bioontology.org/ontology/MESH/D007184

http://purl.bioontology.org/ontology/MESH/D014849

http://purl.bioontology.org/ontology/MESH/D010382

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

http://purl.bioontology.org/ontology/MESH/D054062

http://purl.bioontology.org/ontology/MESH/D007680

http://purl.bioontology.org/ontology/MESH/D014511

http://purl.bioontology.org/ontology/MESH/D003635

http://purl.bioontology.org/ontology/MESH/D054463

http://purl.bioontology.org/ontology/MESH/D005693

http://purl.bioontology.org/ontology/MESH/D011218

http://purl.bioontology.org/ontology/MESH/D007673

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

http://purl.bioontology.org/ontology/MESH/D054877

http://purl.bioontology.org/ontology/MESH/D010501

http://purl.bioontology.org/ontology/MESH/D020140

http://purl.bioontology.org/ontology/MESH/D048550

http://purl.bioontology.org/ontology/MESH/D011535

http://purl.bioontology.org/ontology/MESH/D006959

http://purl.bioontology.org/ontology/MESH/D059228

http://purl.bioontology.org/ontology/MESH/D008375

http://purl.bioontology.org/ontology/MESH/D002780

http://purl.bioontology.org/ontology/MESH/D056734

http://purl.bioontology.org/ontology/MESH/D008108

http://purl.bioontology.org/ontology/MESH/D054000

http://purl.bioontology.org/ontology/MESH/D006530

http://purl.bioontology.org/ontology/MESH/D012410

http://purl.bioontology.org/ontology/MESH/D009397

http://purl.bioontology.org/ontology/MESH/D003410

http://purl.bioontology.org/ontology/MESH/D006975

http://purl.bioontology.org/ontology/MESH/D012415

http://purl.bioontology.org/ontology/MESH/D006505

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

1989
Mapped from

http://purl.bioontology.org/ontology/MESH/C535818

http://purl.bioontology.org/ontology/MESH/C531857

http://purl.bioontology.org/ontology/MESH/C565861
MDA

19880504
MMR

20150608
MN

C18.452.132.100.968

C10.228.140.163.100.968

C12.777.419.978

C16.320.565.663.970

C18.452.648.189.968

C16.320.565.189.968

C13.351.968.419.978

C06.552.970

C16.131.077.970

C18.452.648.663.970
notation

D015211
prefLabel

Zellweger Syndrome
TERMUI

T044477

T044475

T044476

T842793

T842792

T370933

T044478

T370934

T842790

T843886
TH

UNK (19XX)

NLM (1989)

NLM (2000)

ORD (2010)

OMIM (2013)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D008107

http://purl.bioontology.org/ontology/MESH/D007674

http://purl.bioontology.org/ontology/MESH/D020739

http://purl.bioontology.org/ontology/MESH/D000015

http://purl.bioontology.org/ontology/MESH/D018901
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http://purl.bioontology.org/ontology/ICD10CM/E71.541 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/214100 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.510 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.510 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85239 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/DOID_905 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/602136 Online Mendelian Inheritance in Man CUI