Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
Synonyms

PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E
ID

http://purl.bioontology.org/ontology/OMIM/214100
altLabel

PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E

PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1

CG1

ZWS

CHR

PBD1A

ZS

CGE

CEREBROHEPATORENAL SYNDROME
cui

C1865803

C1865804

C0043459
Gene Locus

7q21-q22
Gene Symbol

PBD1B

PEX1

PBD1A

HMLR1

ZWS1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU005669

http://purl.bioontology.org/ontology/OMIM/MTHU013968

http://purl.bioontology.org/ontology/OMIM/MTHU027796

http://purl.bioontology.org/ontology/OMIM/MTHU013962

http://purl.bioontology.org/ontology/OMIM/MTHU027794

http://purl.bioontology.org/ontology/OMIM/MTHU027799

http://purl.bioontology.org/ontology/OMIM/MTHU027797

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU001745

http://purl.bioontology.org/ontology/OMIM/MTHU004127

http://purl.bioontology.org/ontology/OMIM/MTHU013974

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU027800

http://purl.bioontology.org/ontology/OMIM/MTHU013972

http://purl.bioontology.org/ontology/OMIM/MTHU013978

http://purl.bioontology.org/ontology/OMIM/MTHU000152

http://purl.bioontology.org/ontology/OMIM/MTHU013970

http://purl.bioontology.org/ontology/OMIM/MTHU013976

http://purl.bioontology.org/ontology/OMIM/MTHU013964

http://purl.bioontology.org/ontology/OMIM/MTHU009220

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU005748

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU013984

http://purl.bioontology.org/ontology/OMIM/MTHU003212

http://purl.bioontology.org/ontology/OMIM/MTHU013982

http://purl.bioontology.org/ontology/OMIM/MTHU036404

http://purl.bioontology.org/ontology/OMIM/MTHU009025

http://purl.bioontology.org/ontology/OMIM/MTHU013980

http://purl.bioontology.org/ontology/OMIM/MTHU013992

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU006360

http://purl.bioontology.org/ontology/OMIM/MTHU000028

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU036841

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU001096

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU027793

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU013977

http://purl.bioontology.org/ontology/OMIM/MTHU002374

http://purl.bioontology.org/ontology/OMIM/MTHU002075

http://purl.bioontology.org/ontology/OMIM/MTHU003208

http://purl.bioontology.org/ontology/OMIM/MTHU013963

http://purl.bioontology.org/ontology/OMIM/MTHU013969

http://purl.bioontology.org/ontology/OMIM/MTHU013967

http://purl.bioontology.org/ontology/OMIM/MTHU013965

http://purl.bioontology.org/ontology/OMIM/MTHU027795

http://purl.bioontology.org/ontology/OMIM/MTHU027798

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU007830

http://purl.bioontology.org/ontology/OMIM/MTHU013981

http://purl.bioontology.org/ontology/OMIM/MTHU013975

http://purl.bioontology.org/ontology/OMIM/MTHU013979

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU013973

http://purl.bioontology.org/ontology/OMIM/MTHU013971

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU013983

http://purl.bioontology.org/ontology/OMIM/MTHU007265

http://purl.bioontology.org/ontology/OMIM/MTHU003365

http://purl.bioontology.org/ontology/OMIM/MTHU004502

http://purl.bioontology.org/ontology/OMIM/MTHU013991

http://purl.bioontology.org/ontology/OMIM/MTHU036913

http://purl.bioontology.org/ontology/OMIM/MTHU000661

http://purl.bioontology.org/ontology/OMIM/MTHU001974

http://purl.bioontology.org/ontology/OMIM/MTHU013660

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU012953

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU013743

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU001605

http://purl.bioontology.org/ontology/OMIM/MTHU013966
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

214100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
tui

T047
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http://purl.bioontology.org/ontology/ICD10CM/E71.510 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D015211 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566569 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566568 Medical Subject Headings CUI