Mondo Disease Ontology

Last uploaded: May 9, 2024

Preferred Name	steroid inherited metabolic disorder
Synonyms
Definitions	Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.
ID	http://purl.obolibrary.org/obo/MONDO_0005523
database_cross_reference	MESH:D043202 UMLS:C1257809 DOID:1701 EFO:0005590
definition	Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.
exactMatch	http://identifiers.org/mesh/D043202 http://linkedlifedata.com/resource/umls/id/C1257809 http://purl.obolibrary.org/obo/DOID_1701
id	MONDO:0005523
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#inferred_rare
label	steroid inherited metabolic disorder
notation	MONDO:0005523
prefLabel	steroid inherited metabolic disorder
treeView	http://purl.obolibrary.org/obo/MONDO_0002525
subClassOf	http://purl.obolibrary.org/obo/MONDO_0002525

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0005523	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0005523	DOVES	LOOM
http://www.ebi.ac.uk/efo/EFO_0005590	CCONT	LOOM
http://www.ebi.ac.uk/efo/EFO_0005590	EFO	LOOM
http://www.ebi.ac.uk/efo/EFO_0005590	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_1701	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_1701	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_1701	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_1701	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_1701	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_1701	FNS-H	LOOM