Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
Synonyms	CEREBROHEPATORENAL SYNDROME CG1 PBD1A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1 CGE PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E ZWS CHR ZS
ID	http://purl.bioontology.org/ontology/OMIM/214100
altLabel	CEREBROHEPATORENAL SYNDROME CG1 PBD1A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1 CGE PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E ZWS CHR ZS
cui	C1865803 C0043459 C1865804 C4721541
Gene Locus	7q21-q22
Gene Symbol	PEX1 HMLR1 PBD1A ZWS1 PBD1B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001605 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU013966 http://purl.bioontology.org/ontology/OMIM/MTHU013971 http://purl.bioontology.org/ontology/OMIM/MTHU013981 http://purl.bioontology.org/ontology/OMIM/MTHU013975 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU013976 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU007830 http://purl.bioontology.org/ontology/OMIM/MTHU013660 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU009025 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU009220 http://purl.bioontology.org/ontology/OMIM/MTHU013743 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU013963 http://purl.bioontology.org/ontology/OMIM/MTHU013974 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU061405 http://purl.bioontology.org/ontology/OMIM/MTHU001974 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU006360 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU012953 http://purl.bioontology.org/ontology/OMIM/MTHU013980 http://purl.bioontology.org/ontology/OMIM/MTHU000265 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU013984 http://purl.bioontology.org/ontology/OMIM/MTHU013968 http://purl.bioontology.org/ontology/OMIM/MTHU004502 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU007265 http://purl.bioontology.org/ontology/OMIM/MTHU013982 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU000661 http://purl.bioontology.org/ontology/OMIM/MTHU013964 http://purl.bioontology.org/ontology/OMIM/MTHU013973 http://purl.bioontology.org/ontology/OMIM/MTHU036841 http://purl.bioontology.org/ontology/OMIM/MTHU013979 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU036913 http://purl.bioontology.org/ontology/OMIM/MTHU013972 http://purl.bioontology.org/ontology/OMIM/MTHU013983 http://purl.bioontology.org/ontology/OMIM/MTHU005748 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU003212 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU003208 http://purl.bioontology.org/ontology/OMIM/MTHU013969 http://purl.bioontology.org/ontology/OMIM/MTHU013962 http://purl.bioontology.org/ontology/OMIM/MTHU000257 http://purl.bioontology.org/ontology/OMIM/MTHU002374 http://purl.bioontology.org/ontology/OMIM/MTHU013967 http://purl.bioontology.org/ontology/OMIM/MTHU001745 http://purl.bioontology.org/ontology/OMIM/MTHU036404 http://purl.bioontology.org/ontology/OMIM/MTHU013977 http://purl.bioontology.org/ontology/OMIM/MTHU002075 http://purl.bioontology.org/ontology/OMIM/MTHU000152 http://purl.bioontology.org/ontology/OMIM/MTHU000153 http://purl.bioontology.org/ontology/OMIM/MTHU013970 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000094 http://purl.bioontology.org/ontology/OMIM/MTHU013978
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	214100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
Scope Statement	Breech presentation [MISCELLANEOUS] Caused by mutation in the peroxisome biogenesis factor-1 gene (PEX1, 602136.0001) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] Infants occasionally mistaken as having Down syndrome [MISCELLANEOUS] Death usually in first year of life [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C566568	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/88469006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C566569	MESH	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.510	ICD10CM	CUI
http://purl.bioontology.org/ontology/SCTSPA/88469006	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10053706	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10053684	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D015211	MESH	CUI
http://purl.bioontology.org/ontology/RCD/PKy94	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10053684	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00617	SNMI	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003205	NDFRT	CUI
http://purl.bioontology.org/ontology/CSP/1849-1804	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10053706	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D015211	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10053706	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10053684	MEDDRA	CUI
http://purl.obolibrary.org/obo/MONDO_0008953	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008953	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008953	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0008953	KTAO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008953	EFO	LOOM