Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Biotin deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/MESH/C531633
cui	C0268680
HM	D028921
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D028921
MDA	20100825
MeSH Frequency	106
MMR	20190620
notation	C531633
prefLabel	Biotin deficiency
SC	3
Scope Statement	Rare definiciency in BIOTIN caused by mutations in the biotinidase (BTD) gene or genes for other enzymes involved in biotin metabolism. OMIM: 253260
TERMUI	T727069
TH	ORD (2010)
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10004906	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124910006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/413652008	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10004906	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X40YG	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/124910006	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/413652008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10004906	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/E53.8	ICD10CM	CUI
http://purl.obolibrary.org/obo/DOID_0050810	DOID	LOOM
rgo:29382	GAMUTS	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10004906	MEDDRA	LOOM
http://purl.bioontology.org/ontology/RCD/X40YG	RCD	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268680	OCHV	LOOM
http://purl.obolibrary.org/obo/DOID_0050810	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050810	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0050810	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050810	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C531633	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906019098314171	IOBC	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17679	DERMLEX	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/413652008	SNOMEDCT	LOOM