Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Peroxisomal Disorder
Synonyms
Definitions	A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.
ID	http://purl.obolibrary.org/obo/NCIT_C85005
code	C85005
Contributing_Source	CTRP NICHD
definition	A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.
Display_Name	Peroxisomal Disorder
in_subset	http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C118168 http://purl.obolibrary.org/obo/NCIT_C99147
label	Peroxisomal Disorder
Preferred_Name	Peroxisomal Disorder
prefixIRI	NCIT:C85005
prefLabel	Peroxisomal Disorder
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0282528
subClassOf	http://purl.obolibrary.org/obo/NCIT_C34816

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Mapping To	Ontology	Source
http://nanbyodata.jp/ontology/NANDO_2100166	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85005	NCIT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_906	NATPRO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Peroxisomal_Disorder	ESSO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Peroxisomal_Disorder	MEPO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Peroxisomal_Disorder	EPISEM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Peroxisomal_Disorder	CSEO	LOOM
http://www.gamuts.net/entity#peroxisomal_disorder	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_906	CLO	LOOM