Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1
Synonyms	MAN2B1
ID	http://purl.bioontology.org/ontology/OMIM/609458
altLabel	MAN2B1 MANNOSIDASE, ALPHA B, LYSOSOMAL ALPHA-MANNOSIDOSIS LAMAN MANB
cui	C0024748 C1416997
Gene Locus	19cen-q12
Gene Symbol	MANB MAN2B1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/609458.0002 http://purl.bioontology.org/ontology/OMIM/609458.0003 http://purl.bioontology.org/ontology/OMIM/609458.0005 http://purl.bioontology.org/ontology/OMIM/609458.0007 http://purl.bioontology.org/ontology/OMIM/609458.0004 http://purl.bioontology.org/ontology/OMIM/609458.0001 http://purl.bioontology.org/ontology/OMIM/609458.0006
MIMTYPEMEANING	Gene with known sequence
notation	609458
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10083855	MDRGER	CUI
http://purl.bioontology.org/ontology/LNC/LP208416-0	LOINC	CUI
http://purl.bioontology.org/ontology/SNMI/D6-72400	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/65524005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10083855	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D008363	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124466001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001940	NDFRT	CUI
http://purl.bioontology.org/ontology/SCTSPA/124466001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D008363	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10083855	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/C31y3	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/65524005	SCTSPA	CUI
http://www.limics.org/hrdo/rdfns#gen_id_16422	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_123328	ORDO	LOOM