Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Peroxisomal Disorders
Synonyms	Acidemia, Hyperpipecolic Adrenoleukodystrophy, Autosomal Neonatal Form Dysfunctions, Multiple Peroxisomal Peroxisomal Dysfunction, Single Neonatal Adrenoleukodystrophy Peroxisomal Disorder Single Peroxisomal Dysfunction Multiple Peroxisomal Dysfunctions Peroxisomal Dysfunctions, General Peroxisomal Dysfunctions, Single Hyperpipecolatemia Peroxisomal Dysfunctions, Multiple Dysfunction, General Peroxisomal Adrenoleukodystrophies, Neonatal Peroxisomal Dysfunction, Multiple Dysfunctions, General Peroxisomal Neonatal Adrenoleukodystrophies Adrenoleukodystrophy, Neonatal Peroxisomal Dysfunction, General Acidemias, Hyperpipecolic Multiple Peroxisomal Dysfunction Hyperpipecolic Acidemia Dysfunctions, Single Peroxisomal General Peroxisomal Dysfunction Dysfunction, Single Peroxisomal Hyperpipecolic Acidemias General Peroxisomal Dysfunctions Dysfunction, Multiple Peroxisomal Adrenoleukodystrophy, Autosomal, Neonatal Form Single Peroxisomal Dysfunctions
Definitions	A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
ID	http://purl.bioontology.org/ontology/MESH/D018901
altLabel	Acidemia, Hyperpipecolic Adrenoleukodystrophy, Autosomal Neonatal Form Dysfunctions, Multiple Peroxisomal Peroxisomal Dysfunction, Single Neonatal Adrenoleukodystrophy Peroxisomal Disorder Single Peroxisomal Dysfunction Multiple Peroxisomal Dysfunctions Peroxisomal Dysfunctions, General Peroxisomal Dysfunctions, Single Hyperpipecolatemia Peroxisomal Dysfunctions, Multiple Dysfunction, General Peroxisomal Adrenoleukodystrophies, Neonatal Peroxisomal Dysfunction, Multiple Dysfunctions, General Peroxisomal Neonatal Adrenoleukodystrophies Adrenoleukodystrophy, Neonatal Peroxisomal Dysfunction, General Acidemias, Hyperpipecolic Multiple Peroxisomal Dysfunction Hyperpipecolic Acidemia Dysfunctions, Single Peroxisomal General Peroxisomal Dysfunction Dysfunction, Single Peroxisomal Hyperpipecolic Acidemias General Peroxisomal Dysfunctions Dysfunction, Multiple Peroxisomal Adrenoleukodystrophy, Autosomal, Neonatal Form Single Peroxisomal Dysfunctions
AN	general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY
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	C0282526 C0751710 C0751708 C0282528 C0282525 C0751709
DC	1
definition	A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
DX	19960101
HN	1996
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D020675
Machine permutation	1996
Mapped from	http://purl.bioontology.org/ontology/MESH/C566634 http://purl.bioontology.org/ontology/MESH/C566635 http://purl.bioontology.org/ontology/MESH/C566633 http://purl.bioontology.org/ontology/MESH/C566626 http://purl.bioontology.org/ontology/MESH/C566625 http://purl.bioontology.org/ontology/MESH/C566624 http://purl.bioontology.org/ontology/MESH/C535444 http://purl.bioontology.org/ontology/MESH/C566405 http://purl.bioontology.org/ontology/MESH/C566406 http://purl.bioontology.org/ontology/MESH/C563301 http://purl.bioontology.org/ontology/MESH/C536664 http://purl.bioontology.org/ontology/MESH/C566568 http://purl.bioontology.org/ontology/MESH/C566569 http://purl.bioontology.org/ontology/MESH/C566388 http://purl.bioontology.org/ontology/MESH/C566387 http://purl.bioontology.org/ontology/MESH/C566422 http://purl.bioontology.org/ontology/MESH/C563965 http://purl.bioontology.org/ontology/MESH/C563964
MDA	19941227
MMR	20150608
MN	C16.320.565.663 C18.452.648.663
notation	D018901
prefLabel	Peroxisomal Disorders
TERMUI	T369866 T056329 T812298 T056335 T369867 T056330 T745635 T369865 T752049 T812299
TH	NLM (1996) OMIM (2013) NLM (2000) NLM (2012) NLM (2010) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D008661

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D018901	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D018901	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D018901	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D018901	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D018901	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D018901	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/88469006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D6-A4190	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10082383	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/PKy94	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10082383	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/13306007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/13306007	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU013983	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10082387	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10082387	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10082383	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10082387	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238066006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40Wm	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/238066006	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X40Wf	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/238060000	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238060000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.5	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.50	ICD10CM	CUI
http://purl.bioontology.org/ontology/SCTSPA/238059005	SCTSPA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003876	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238059005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40We	RCD	CUI
http://purl.bioontology.org/ontology/ICD9CM/277.86	ICD9CM	CUI
http://purl.bioontology.org/ontology/SCTSPA/238061001	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.511	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/X40Wg	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238061001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/238063003	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X40Wi	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238063003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.5	ICD10CM	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0282528	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.680	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018901	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.680	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0019027	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.663	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.663	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906017127655266	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.680	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.680	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036699	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/ICD9CM/277.86	ICD9CM	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#27632	OCHV	LOOM