Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	PEROXISOME BIOGENESIS FACTOR 1
Synonyms	PEROXISOME BIOGENESIS DISORDER 1B
ID	http://purl.bioontology.org/ontology/OMIM/602136
altLabel	PEROXISOME BIOGENESIS DISORDER 1B PEX1 HEIMLER SYNDROME 1 PEROXIN 1 PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
cui	C1418469 C0282527 C1856186 C0043459
Gene Locus	7q21-q22
Gene Symbol	PBD1B PEX1 PBD1A HMLR1 ZWS1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/602136.0007 http://purl.bioontology.org/ontology/OMIM/602136.0009 http://purl.bioontology.org/ontology/OMIM/602136.0003 http://purl.bioontology.org/ontology/OMIM/602136.0004 http://purl.bioontology.org/ontology/OMIM/602136.0005 http://purl.bioontology.org/ontology/OMIM/602136.0001 http://purl.bioontology.org/ontology/OMIM/602136.0002 http://purl.bioontology.org/ontology/OMIM/602136.0006 http://purl.bioontology.org/ontology/OMIM/602136.0008
MIMTYPEMEANING	Gene with known sequence
notation	602136
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	PEROXISOME BIOGENESIS FACTOR 1
tui	T028 T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/G60.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.obolibrary.org/obo/PR_000012553	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/C535994	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D052919	Medical Subject Headings	CUI
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/LNC/LP208429-3	Logical Observation Identifier Names and Codes	CUI